146 results on '"Khusnutdinova, Elza K."'
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2. Understanding the genetic complexity of puberty timing across the allele frequency spectrum
- Author
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Kentistou, Katherine A., Kaisinger, Lena R., Stankovic, Stasa, Vaudel, Marc, Mendes de Oliveira, Edson, Messina, Andrea, Walters, Robin G., Liu, Xiaoxi, Busch, Alexander S., Helgason, Hannes, Thompson, Deborah J., Santoni, Federico, Petricek, Konstantin M., Zouaghi, Yassine, Huang-Doran, Isabel, Gudbjartsson, Daniel F., Bratland, Eirik, Lin, Kuang, Gardner, Eugene J., Zhao, Yajie, Jia, Raina Y., Terao, Chikashi, Riggan, Marjorie J., Bolla, Manjeet K., Yazdanpanah, Mojgan, Yazdanpanah, Nahid, Bradfield, Jonathan P., Broer, Linda, Campbell, Archie, Chasman, Daniel I., Cousminer, Diana L., Franceschini, Nora, Franke, Lude H., Girotto, Giorgia, He, Chunyan, Järvelin, Marjo-Riitta, Joshi, Peter K., Kamatani, Yoichiro, Karlsson, Robert, Luan, Jian’an, Lunetta, Kathryn L., Mägi, Reedik, Mangino, Massimo, Medland, Sarah E., Meisinger, Christa, Noordam, Raymond, Nutile, Teresa, Concas, Maria Pina, Polašek, Ozren, Porcu, Eleonora, Ring, Susan M., Sala, Cinzia, Smith, Albert V., Tanaka, Toshiko, van der Most, Peter J., Vitart, Veronique, Wang, Carol A., Willemsen, Gonneke, Zygmunt, Marek, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Auer, Paul L., Barnes, Catriona L. K., Beckmann, Matthias W., Berrington de Gonzalez, Amy, Bogdanova, Natalia V., Bojesen, Stig E., Brenner, Hermann, Buring, Julie E., Canzian, Federico, Chang-Claude, Jenny, Couch, Fergus J., Cox, Angela, Crisponi, Laura, Czene, Kamila, Daly, Mary B., Demerath, Ellen W., Dennis, Joe, Devilee, Peter, De Vivo, Immaculata, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eriksson, Johan G., Fasching, Peter A., Fernandez-Rhodes, Lindsay, Ferreli, Liana, Fletcher, Olivia, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., González-Neira, Anna, Grallert, Harald, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hakonarson, Hakon, Hart, Roger J., Hickey, Martha, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Hottenga, Jouke-Jan, Hu, Frank B., Huebner, Hanna, Hunter, David J., Jernström, Helena, John, Esther M., Karasik, David, Khusnutdinova, Elza K., Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Launer, Lenore J., Lind, Penelope A., Lindblom, Annika, Magnusson, Patrik K. E., Mannermaa, Arto, McCarthy, Mark I., Meitinger, Thomas, Menni, Cristina, Michailidou, Kyriaki, Millwood, Iona Y., Milne, Roger L., Montgomery, Grant W., Nevanlinna, Heli, Nolte, Ilja M., Nyholt, Dale R., Obi, Nadia, O’Brien, Katie M., Offit, Kenneth, Oldehinkel, Albertine J., Ostrowski, Sisse R., Palotie, Aarno, Pedersen, Ole B., Peters, Annette, Pianigiani, Giulia, Plaseska-Karanfilska, Dijana, Pouta, Anneli, Pozarickij, Alfred, Radice, Paolo, Rennert, Gad, Rosendaal, Frits R., Ruggiero, Daniela, Saloustros, Emmanouil, Sandler, Dale P., Schipf, Sabine, Schmidt, Carsten O., Schmidt, Marjanka K., Small, Kerrin, Spedicati, Beatrice, Stampfer, Meir, Stone, Jennifer, Tamimi, Rulla M., Teras, Lauren R., Tikkanen, Emmi, Turman, Constance, Vachon, Celine M., Wang, Qin, Winqvist, Robert, Wolk, Alicja, Zemel, Babette S., Zheng, Wei, van Dijk, Ko W., Alizadeh, Behrooz Z., Bandinelli, Stefania, Boerwinkle, Eric, Boomsma, Dorret I., Ciullo, Marina, Chenevix-Trench, Georgia, Cucca, Francesco, Esko, Tõnu, Gieger, Christian, Grant, Struan F. A., Gudnason, Vilmundur, Hayward, Caroline, Kolčić, Ivana, Kraft, Peter, Lawlor, Deborah A., Martin, Nicholas G., Nøhr, Ellen A., Pedersen, Nancy L., Pennell, Craig E., Ridker, Paul M., Robino, Antonietta, Snieder, Harold, Sovio, Ulla, Spector, Tim D., Stöckl, Doris, Sudlow, Cathie, Timpson, Nic J., Toniolo, Daniela, Uitterlinden, André, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J., Widen, Elisabeth, Wilson, James F., Pharoah, Paul D. P., Li, Liming, Easton, Douglas F., Njølstad, Pål R., Sulem, Patrick, Murabito, Joanne M., Murray, Anna, Manousaki, Despoina, Juul, Anders, Erikstrup, Christian, Stefansson, Kari, Horikoshi, Momoko, Chen, Zhengming, Farooqi, I. Sadaf, Pitteloud, Nelly, Johansson, Stefan, Day, Felix R., Perry, John R. B., and Ong, Ken K.
- Published
- 2024
- Full Text
- View/download PDF
3. Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum
- Author
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Kentistou, Katherine A., Kaisinger, Lena R., Stankovic, Stasa, Vaudel, Marc, Mendes de Oliveira, Edson, Messina, Andrea, Walters, Robin G., Liu, Xiaoxi, Busch, Alexander S., Helgason, Hannes, Thompson, Deborah J., Santoni, Federico, Petricek, Konstantin M., Zouaghi, Yassine, Huang-Doran, Isabel, Gudbjartsson, Daniel F., Bratland, Eirik, Lin, Kuang, Gardner, Eugene J., Zhao, Yajie, Jia, Raina Y., Terao, Chikashi, Riggan, Marjorie J., Bolla, Manjeet K., Yazdanpanah, Mojgan, Yazdanpanah, Nahid, Bradfield, Jonathan P., Broer, Linda, Campbell, Archie, Chasman, Daniel I., Cousminer, Diana L., Franceschini, Nora, Franke, Lude H., Girotto, Giorgia, He, Chunyan, Järvelin, Marjo-Riitta, Joshi, Peter K., Kamatani, Yoichiro, Karlsson, Robert, Luan, Jian’an, Lunetta, Kathryn L., Mägi, Reedik, Mangino, Massimo, Medland, Sarah E., Meisinger, Christa, Noordam, Raymond, Nutile, Teresa, Concas, Maria Pina, Polašek, Ozren, Porcu, Eleonora, Ring, Susan M., Sala, Cinzia, Smith, Albert V., Tanaka, Toshiko, van der Most, Peter J., Vitart, Veronique, Wang, Carol A., Willemsen, Gonneke, Zygmunt, Marek, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Auer, Paul L., Barnes, Catriona L. K., Beckmann, Matthias W., Berrington de Gonzalez, Amy, Bogdanova, Natalia V., Bojesen, Stig E., Brenner, Hermann, Buring, Julie E., Canzian, Federico, Chang-Claude, Jenny, Couch, Fergus J., Cox, Angela, Crisponi, Laura, Czene, Kamila, Daly, Mary B., Demerath, Ellen W., Dennis, Joe, Devilee, Peter, De Vivo, Immaculata, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eriksson, Johan G., Fasching, Peter A., Fernandez-Rhodes, Lindsay, Ferreli, Liana, Fletcher, Olivia, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., González-Neira, Anna, Grallert, Harald, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hakonarson, Hakon, Hart, Roger J., Hickey, Martha, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Hottenga, Jouke-Jan, Hu, Frank B., Huebner, Hanna, Hunter, David J., Jernström, Helena, John, Esther M., Karasik, David, Khusnutdinova, Elza K., Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Launer, Lenore J., Lind, Penelope A., Lindblom, Annika, Magnusson, Patrik K. E., Mannermaa, Arto, McCarthy, Mark I., Meitinger, Thomas, Menni, Cristina, Michailidou, Kyriaki, Millwood, Iona Y., Milne, Roger L., Montgomery, Grant W., Nevanlinna, Heli, Nolte, Ilja M., Nyholt, Dale R., Obi, Nadia, O’Brien, Katie M., Offit, Kenneth, Oldehinkel, Albertine J., Ostrowski, Sisse R., Palotie, Aarno, Pedersen, Ole B., Peters, Annette, Pianigiani, Giulia, Plaseska-Karanfilska, Dijana, Pouta, Anneli, Pozarickij, Alfred, Radice, Paolo, Rennert, Gad, Rosendaal, Frits R., Ruggiero, Daniela, Saloustros, Emmanouil, Sandler, Dale P., Schipf, Sabine, Schmidt, Carsten O., Schmidt, Marjanka K., Small, Kerrin, Spedicati, Beatrice, Stampfer, Meir, Stone, Jennifer, Tamimi, Rulla M., Teras, Lauren R., Tikkanen, Emmi, Turman, Constance, Vachon, Celine M., Wang, Qin, Winqvist, Robert, Wolk, Alicja, Zemel, Babette S., Zheng, Wei, van Dijk, Ko W., Alizadeh, Behrooz Z., Bandinelli, Stefania, Boerwinkle, Eric, Boomsma, Dorret I., Ciullo, Marina, Chenevix-Trench, Georgia, Cucca, Francesco, Esko, Tõnu, Gieger, Christian, Grant, Struan F. A., Gudnason, Vilmundur, Hayward, Caroline, Kolčić, Ivana, Kraft, Peter, Lawlor, Deborah A., Martin, Nicholas G., Nøhr, Ellen A., Pedersen, Nancy L., Pennell, Craig E., Ridker, Paul M., Robino, Antonietta, Snieder, Harold, Sovio, Ulla, Spector, Tim D., Stöckl, Doris, Sudlow, Cathie, Timpson, Nic J., Toniolo, Daniela, Uitterlinden, André, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J., Widen, Elisabeth, Wilson, James F., Pharoah, Paul D. P., Li, Liming, Easton, Douglas F., Njølstad, Pål R., Sulem, Patrick, Murabito, Joanne M., Murray, Anna, Manousaki, Despoina, Juul, Anders, Erikstrup, Christian, Stefansson, Kari, Horikoshi, Momoko, Chen, Zhengming, Farooqi, I. Sadaf, Pitteloud, Nelly, Johansson, Stefan, Day, Felix R., Perry, John R. B., and Ong, Ken K.
- Published
- 2024
- Full Text
- View/download PDF
4. Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions
- Author
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Dareng, Eileen O., Coetzee, Simon G., Tyrer, Jonathan P., Peng, Pei-Chen, Rosenow, Will, Chen, Stephanie, Davis, Brian D., Dezem, Felipe Segato, Seo, Ji-Heui, Nameki, Robbin, Reyes, Alberto L., Aben, Katja K.H., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Bandera, Elisa V., Beane Freeman, Laura E., Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bolton, Kelly L., Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Cai, Hui, Campbell, Ian, Cannioto, Rikki, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chenevix-Trench, Georgia, Chiew, Yoke-Eng, Cook, Linda S., DeFazio, Anna, Dennis, Joe, Doherty, Jennifer A., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Ene, Gabrielle, Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Fostira, Florentia, Gentry-Maharaj, Aleksandra, Giles, Graham G., Goodman, Marc T., Gronwald, Jacek, Haiman, Christopher A., Håkansson, Niclas, Heitz, Florian, Hildebrandt, Michelle A.T., Høgdall, Estrid, Høgdall, Claus K., Huang, Ruea-Yea, Jensen, Allan, Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony N., Kelemen, Linda E., Kennedy, Catherine J., Khusnutdinova, Elza K., Kiemeney, Lambertus A., Kjaer, Susanne K., Kupryjanczyk, Jolanta, Labrie, Marilyne, Lambrechts, Diether, Larson, Melissa C., Le, Nhu D., Lester, Jenny, Li, Lian, Lubiński, Jan, Lush, Michael, Marks, Jeffrey R., Matsuo, Keitaro, May, Taymaa, McLaughlin, John R., McNeish, Iain A., Menon, Usha, Missmer, Stacey, Modugno, Francesmary, Moffitt, Melissa, Monteiro, Alvaro N., Moysich, Kirsten B., Narod, Steven A., Nguyen-Dumont, Tu, Odunsi, Kunle, Olsson, Håkan, Onland-Moret, N. Charlotte, Park, Sue K., Pejovic, Tanja, Permuth, Jennifer B., Piskorz, Anna, Prokofyeva, Darya, Riggan, Marjorie J., Risch, Harvey A., Rodríguez-Antona, Cristina, Rossing, Mary Anne, Sandler, Dale P., Setiawan, V. Wendy, Shan, Kang, Song, Honglin, Southey, Melissa C., Steed, Helen, Sutphen, Rebecca, Swerdlow, Anthony J., Teo, Soo Hwang, Terry, Kathryn L., Thompson, Pamela J., Vestrheim Thomsen, Liv Cecilie, Titus, Linda, Trabert, Britton, Travis, Ruth, Tworoger, Shelley S., Valen, Ellen, Van Nieuwenhuysen, Els, Edwards, Digna Velez, Vierkant, Robert A., Webb, Penelope M., Weinberg, Clarice R., Weise, Rayna Matsuno, Wentzensen, Nicolas, White, Emily, Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zeinomar, Nur, Zheng, Wei, Ziogas, Argyrios, Berchuck, Andrew, Goode, Ellen L., Huntsman, David G., Pearce, Celeste L., Ramus, Susan J., Sellers, Thomas A., Freedman, Matthew L., Lawrenson, Kate, Schildkraut, Joellen M., Hazelett, Dennis, Plummer, Jasmine T., Kar, Siddhartha, Jones, Michelle R., Pharoah, Paul D.P., and Gayther, Simon A.
- Published
- 2024
- Full Text
- View/download PDF
5. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
- Author
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Figlioli, Gisella, Billaud, Amandine, Ahearn, Thomas U., Antonenkova, Natalia N., Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blok, Marinus J., Bogdanova, Natalia V., Bonanni, Bernardo, Burwinkel, Barbara, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Cessna, Melissa H., Chanock, Stephen J., Czene, Kamila, Devilee, Peter, Dörk, Thilo, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine D., Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, González-Neira, Anna, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harrington, Patricia A., He, Wei, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J., Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, Jager, Agnes, Jakubowska, Anna, Khusnutdinova, Elza K., Ko, Yon-Dschun, Kristensen, Vessela N., Lindblom, Annika, Lissowska, Jolanta, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Newman, William G., Obi, Nadia, Panayiotidis, Mihalis I., Rashid, Muhammad U., Rhenius, Valerie, Rookus, Matti A., Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sironen, Reijo, Southey, Melissa C., Suvanto, Maija, Tollenaar, Rob A. E. M., Tomlinson, Ian, Truong, Thérèse, van der Kolk, Lizet E., van Veen, Elke M., Wappenschmidt, Barbara, Yang, Xiaohong R., Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Easton, Douglas F., Lush, Michael, Michailidou, Kyriaki, Pharoah, Paul D. P., Wang, Qin, Adank, Muriel A., Schmidt, Marjanka K., Andrulis, Irene L., Chang-Claude, Jenny, Nevanlinna, Heli, Chenevix-Trench, Georgia, Evans, D. Gareth, Milne, Roger L., Radice, Paolo, and Peterlongo, Paolo
- Published
- 2023
- Full Text
- View/download PDF
6. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
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Mueller, Stefanie H., Lai, Alvina G., Valkovskaya, Maria, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Abu-Ful, Zomoruda, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Baert, Thais, Freeman, Laura E. Beane, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brenner, Hermann, Brucker, Sara Y., Buys, Saundra S., Castelao, Jose E., Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Choi, Ji-Yeob, Chung, Wendy K., Colonna, Sarah V., Cornelissen, Sten, Couch, Fergus J., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Yu-Tang, García-Closas, Montserrat, García-Sáenz, José A., Genkinger, Jeanine, Gentry-Maharaj, Aleksandra, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Harkness, Elaine F., Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Ho, Weang-Kee, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Hunter, David J., Huo, Dezheng, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Khusnutdinova, Elza K., Kim, Sung-Won, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Kwong, Ava, Lacey, James V., Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Linet, Martha, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Menon, Usha, Muir, Kenneth, Murphy, Rachel A., Nevanlinna, Heli, Newman, William G., Niederacher, Dieter, O’Brien, Katie M., Obi, Nadia, Offit, Kenneth, Olopade, Olufunmilayo I., Olshan, Andrew F., Olsson, Håkan, Park, Sue K., Patel, Alpa V., Patel, Achal, Perou, Charles M., Peto, Julian, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Ruddy, Kathryn J., Ruebner, Matthias, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneider, Michael O., Scott, Christopher, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Surowy, Harald, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Toland, Amanda E., Tollenaar, Rob A. E. M., Torres, Diana, Torres-Mejía, Gabriela, Troester, Melissa A., Truong, Thérèse, Vachon, Celine M., Vijai, Joseph, Weinberg, Clarice R., Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yamaji, Taiki, Yang, Xiaohong R., Yu, Jyh-Cherng, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M., Easton, Douglas F., Hemingway, Harry, Hamann, Ute, and Kuchenbaecker, Karoline B.
- Published
- 2023
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7. A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia
- Author
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Solovyev, Aisen V., Kushniarevich, Alena, Bliznetz, Elena, Bady-Khoo, Marita, Lalayants, Maria R., Markova, Tatiana G., Minárik, Gabriel, Kádasi, L’udevít, Metspalu, Ene, Pshennikova, Vera G., Teryutin, Fedor M., Khusnutdinova, Elza K., Poliakov, Alexander, Metspalu, Mait, Posukh, Olga L., Barashkov, Nikolay A., and Fedorova, Sardana A.
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- 2022
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8. Association of Gasdermin B Gene GSDMB Polymorphisms with Risk of Allergic Diseases
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Karunas, Alexandra S., Fedorova, Yuliya Yu., Gimalova, Galiya F., Etkina, Esfir I., and Khusnutdinova, Elza K.
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- 2021
- Full Text
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9. Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
- Author
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Barashkov, Nikolay A., Konovalov, Fedor A., Borisova, Tuyara V., Teryutin, Fedor M., Solovyev, Aisen V., Pshennikova, Vera G., Sapojnikova, Nadejda V., Vychuzhina, Lyubov S., Romanov, Georgii P., Gotovtsev, Nyurgun N., Morozov, Igor V., Bondar, Alexander A., Platonov, Fedor A., Burtseva, Tatiana E., Khusnutdinova, Elza K., Posukh, Olga L., and Fedorova, Sardana A.
- Published
- 2021
- Full Text
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10. Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39
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Kuligina, Ekaterina S., Sokolenko, Anna P., Bizin, Ilya V., Romanko, Alexandr A., Zagorodnev, Kirill A., Anisimova, Maria O., Krylova, Daria D., Anisimova, Elena I., Mantseva, Maria A., Varma, Ashok K., Hasan, Syed K., Ni, Valeria I., Koloskov, Andrey V., Suspitsin, Evgeny N., Venina, Aigul R., Aleksakhina, Svetlana N., Sokolova, Tatiana N., Milanović, Ana Marija, Schürmann, Peter, Prokofyeva, Darya S., Bermisheva, Marina A., Khusnutdinova, Elza K., Bogdanova, Natalia, Dörk, Thilo, and Imyanitov, Evgeny N.
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- 2020
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11. Origin and diffusion of human Y chromosome haplogroup J1-M267
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Sahakyan, Hovhannes, Margaryan, Ashot, Saag, Lauri, Karmin, Monika, Flores, Rodrigo, Haber, Marc, Kushniarevich, Alena, Khachatryan, Zaruhi, Bahmanimehr, Ardeshir, Parik, Jüri, Karafet, Tatiana, Yunusbayev, Bayazit, Reisberg, Tuuli, Solnik, Anu, Metspalu, Ene, Hovhannisyan, Anahit, Khusnutdinova, Elza K., Behar, Doron M., Metspalu, Mait, Yepiskoposyan, Levon, Rootsi, Siiri, and Villems, Richard
- Published
- 2021
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12. Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
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Sahlberg, Kristine K., Børresen-Dale, Anne-Lise, Gram, Inger Torhild, Olsen, Karina Standahl, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, OSBREAC, Grenaker Alnæs, Grethe I., Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Bodek, Simon, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah-Jane, deFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Harraka, Philip, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason, Li, Shuai, Lindeman, Geoff, Lippey, Jocelyn, Lipton, Lara, Lobb, Liz, Loi, Sherene, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Nightingale, Sophie, O'Connell, Shona, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Pang, Jia-Min, Pathak, Gargi, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Ragunathan, Abi, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Savas, Peter, Scott, Rodney, Scott, Clare, Sexton, Adrienne, Shaw, Joanne, Shelling, Andrew, Srinivasa, Shweta, Simpson, Peter, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Zaheed, Milita, Davidson, Aimee L., Michailidou, Kyriaki, Parsons, Michael T., Fortuno, Cristina, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Naven, Marc, Abubakar, Mustapha, Ahearn, Thomas U., Alonso, M. Rosario, Andrulis, Irene L., Antoniou, Antonis C., Auvinen, Päivi, Behrens, Sabine, Bermisheva, Marina A., Bogdanova, Natalia V., Bojesen, Stig E., Brüning, Thomas, Byers, Helen J., Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collée, J. Margriet, Czene, Kamila, Dörk, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, Glendon, Gord, González-Neira, Anna, Grassmann, Felix, Gronwald, Jacek, Guénel, Pascal, Hadjisavvas, Andreas, Haeberle, Lothar, Hall, Per, Hamann, Ute, Hartman, Mikael, Ho, Peh Joo, Hooning, Maartje J., Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Khusnutdinova, Elza K., Kristensen, Vessela N., Li, Jingmei, Lim, Joanna, Lindblom, Annika, Liu, Jenny, Lophatananon, Artitaya, Mannermaa, Arto, Mavroudis, Dimitrios A., Mensenkamp, Arjen R., Milne, Roger L., Muir, Kenneth R., Newman, William G., Obi, Nadia, Panayiotidis, Mihalis I., Park, Sue K., Park-Simon, Tjoung-Won, Peterlongo, Paolo, Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Saloustros, Emmanouil, Sawyer, Elinor J., Schmidt, Marjanka K., Seibold, Petra, Shah, Mitul, Southey, Melissa C., Teo, Soo Hwang, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van de Beek, Irma, van der Hout, Annemieke H., Wendt, Camilla C., Dunning, Alison M., Pharoah, Paul D.P., Devilee, Peter, Easton, Douglas F., James, Paul A., and Spurdle, Amanda B.
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- 2024
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13. Opening up new horizons for psychiatric genetics in the Russian Federation: moving toward a national consortium
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Fedorenko, Olga Yu., Golimbet, Vera E., Ivanova, Svetlana А., Levchenko, Аnastasia, Gainetdinov, Raul R., Semke, Arkady V., Simutkin, German G., Gareeva, Аnna E., Glotov, Аndrey S., Gryaznova, Anna, Iourov, Ivan Y., Krupitsky, Evgeny M., Lebedev, Igor N., Mazo, Galina E., Kaleda, Vasily G., Abramova, Lilia I., Oleichik, Igor V., Nasykhova, Yulia A., Nasyrova, Regina F., Nikolishin, Anton E., Kasyanov, Evgeny D., Rukavishnikov, Grigory V., Timerbulatov, Ilgiz F., Brodyansky, Vadim M., Vorsanova, Svetlana G., Yurov, Yury B., Zhilyaeva, Tatyana V., Sergeeva, Anzhelika V., Blokhina, Elena A., Zvartau, Edwin E., Blagonravova, Anna S., Aftanas, Lyubomir I., Bokhan, Nikolay А., Kekelidze, Zurab I., Klimenko, Tatyana V., Anokhina, Irina P., Khusnutdinova, Elza K., Klyushnik, Tatyana P., Neznanov, Nikolay G., Stepanov, Vadim A., Schulze, Thomas G., and Kibitov, Аleksandr О.
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- 2019
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14. Dihydroquercetin: known antioxidant—new inhibitor of alpha-amylase activity
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Zaynullin, Radik A., Kunakova, Raikhana V., Khusnutdinova, Elza K., Yalaev, Bulat I., Segura-Ceniceros, E. Patricia, Chavez-Gonzalez, Mónica L., Martínez-Hernández, José L., Gernet, Marina V., Batashov, Evgeny S., and Ilyina, Anna
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- 2018
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15. Identification of a new locus at 16q12 associated with time to asthma onset
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Sarnowski, Chloé, Sugier, Pierre-Emmanuel, Granell, Raquel, Jarvis, Debbie, Dizier, Marie-Hélène, Ege, Markus, Imboden, Medea, Laprise, Catherine, Khusnutdinova, Elza K., Freidin, Maxim B., Cookson, William O.C., Moffatt, Miriam, Lathrop, Mark, Siroux, Valérie, Ogorodova, Ludmila M., Karunas, Alexandra S., James, Alan, Probst-Hensch, Nicole M., von Mutius, Erika, Pin, Isabelle, Kogevinas, Manolis, Henderson, A. John, Demenais, Florence, and Bouzigon, Emmanuelle
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- 2016
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16. Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations
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Solovyev, Aisen V., Dzhemileva, Lilya U., Posukh, Olga L., Barashkov, Nikolay A., Bady-Khoo, Marita S., Lobov, Semen L., Popova, Natalya Yu., Romanov, Georgii P., Sazonov, Nikolay N., Bondar, Alexander A., Morozov, Igor V., Tomsky, Mikhail I., Fedorova, Sardana A., and Khusnutdinova, Elza K.
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- 2017
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17. Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci
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Devries, Amber A, Dennis, Joe, Tyrer, Jonathan P, Peng, Pei-chen, Coetzee, Simon G, Reyes, Alberto L, Plummer, Jasmine T, Davis, Brian D, Chen, Stephanie S, Dezem, Felipe Segato, Aben, Katja K H, Anton-culver, Hoda, Antonenkova, Natalia N, Beckmann, Matthias W, Beeghly-fadiel, Alicia, Berchuck, Andrew, Bogdanova, Natalia V, Bogdanova-markov, Nadja, Brenton, James D, Butzow, Ralf, Campbell, Ian, Chang-claude, Jenny, Chenevix-trench, G, Cook, Linda S, Defazio, A, Doherty, Jennifer A, Dörk, Thilo, Eccles, Diana M, Eliassen, A Heather, Fasching, Peter A, Fortner, Renée T, Giles, Graham G, Goode, Ellen L, Goodman, Marc T, Gronwald, Jacek, Webb, P, Friedlander, M, Obermair, A, Grant, P, Nagle, C, Beesley, V, Chevenix-trench, G, Bowtell, D, Blomfield, P, Brand, A, Davis, A, Leung, Y, Nicklin, J, Quinn, M, Livingstone, K, O'neill, H, Williams, M, Black, A, Hadley, A, Glasgow, A, Garrett, A, Rao, A, Shannon, C, Steer, C, Allen, D, Neesham, D, Otton, G, Au-yeung, G, Goss, G, Wain, G, Gard, G, Robertson, G, Lombard, J, Tan, J, Mcneilage, J, Power, J, Coward, J, Miller, J, Carter, J, Lamont, J, Wong, K M, Reid, K, Perrin, L, Milishkin, L, Nascimento, M, Buck, M, Bunting, M, Harrison, M, Chetty, N, Hacker, N, Mcnally, O, Harnett, P, Beale, P, Awad, R, Mohan, R, Farrell, R, Mcintosh, R, Rome, R, Sayer, R, Houghton, R, Hogg, R, Land, R, Baron-hay, S, Paramasivum, S, Pather, S, Hyde, S, Salfinger, S, Valmadre, S, Jobling, T, Manolitsas, T, Bonaventura, T, Arora, V, Green, A, Gertig, D, Traficante, N, Fereday, S, Moore, S, Hung, J, Harrap, K, Sadkowsky, T, Pandeya, N, Malt, M, Robertson, R, Bergh, T Vanden, Jones, M, Mckenzie, P, Maidens, J, Nattress, K, Chiew, Y E, Stenlake, A, Sullivan, H, Alexander, B, Ashover, P, Brown, S, Corrish, T, Green, L, Jackman, L, Ferguson, K, Martin, K, Martyn, A, Ranieri, B, White, J, Jayde, V, Bowes, L, Mamers, P, Galletta, L, Giles, D, Hendley, J, Alsop, K, Schmidt, T, Shirley, H, Ball, C, Young, C, Viduka, S, Tran, H, Bilic, S, Glavinas, L, Brooks, J, Stuart-harris, R, Kirsten, F, Rutovitz, J, Clingan, P, Proietto, A, Braye, S, Shannon, J, Stewart, J, Begbie, S, Håkansson, Niclas, Hildebrandt, Michelle A T, Huff, Chad, Huntsman, David G, Jensen, Allan, Kar, Siddhartha, Karlan, Beth Y, Khusnutdinova, Elza K, Kiemeney, Lambertus A, Kjaer, Susanne K, Kupryjanczyk, Jolanta, Labrie, Marilyne, Lambrechts, Diether, Le, Nhu D, Lubiński, Jan, May, Taymaa, Menon, Usha, Milne, Roger L, Modugno, Francesmary, Monteiro, Alvaro N, Moysich, Kirsten B, Odunsi, Kunle, Olsson, Håkan, Pearce, Celeste L, Pejovic, Tanja, Ramus, Susan J, Riboli, Elio, Riggan, Marjorie J, Romieu, Isabelle, Sandler, Dale P, Schildkraut, Joellen M, Setiawan, V Wendy, Sieh, Weiva, Song, Honglin, Sutphen, Rebecca, Terry, Kathryn L, Thompson, Pamela J, Titus, Linda, Tworoger, Shelley S, Van Nieuwenhuysen, Els, Edwards, Digna Velez, Webb, Penelope M, Wentzensen, Nicolas, Whittemore, Alice S, Wolk, Alicja, Wu, Anna H, Ziogas, Argyrios, Freedman, Matthew L, Lawrenson, Kate, Pharoah, Paul D P, Easton, Douglas F, Gayther, Simon A, Jones, Michelle R, Helsinki University Hospital Area, Clinicum, Department of Pathology, and HUSLAB
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Cancer Research ,GENES ,DNA Copy Number Variations ,SUSCEPTIBILITY LOCI ,3122 Cancers ,Carcinoma, Ovarian Epithelial ,Polymorphism, Single Nucleotide ,BREAST ,Humans ,Genetic Predisposition to Disease ,BRCA2 MUTATIONS ,GENOME-WIDE ASSOCIATION ,Alleles ,Ovarian Neoplasms ,Cancer och onkologi ,Science & Technology ,IDENTIFICATION ,REARRANGEMENTS ,COMMON VARIANTS ,GERMLINE MUTATIONS ,DELETIONS ,Oncology ,Urological cancers Radboud Institute for Health Sciences [Radboudumc 15] ,Cancer and Oncology ,Female ,Life Sciences & Biomedicine ,Genome-Wide Association Study - Abstract
Background Known risk alleles for epithelial ovarian cancer (EOC) account for approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been investigated as EOC risk alleles in a large population cohort. Methods Single nucleotide polymorphism array data from 13 071 EOC cases and 17 306 controls of White European ancestry were used to identify CNVs associated with EOC risk using a rare admixture maximum likelihood test for gene burden and a by-probe ratio test. We performed enrichment analysis of CNVs at known EOC risk loci and functional biofeatures in ovarian cancer–related cell types. Results We identified statistically significant risk associations with CNVs at known EOC risk genes; BRCA1 (PEOC = 1.60E-21; OREOC = 8.24), RAD51C (Phigh-grade serous ovarian cancer [HGSOC] = 5.5E-4; odds ratio [OR]HGSOC = 5.74 del), and BRCA2 (PHGSOC = 7.0E-4; ORHGSOC = 3.31 deletion). Four suggestive associations (P Conclusions CNVs in BRCA1 have been previously reported in smaller studies, but their observed frequency in this large population-based cohort, along with the CNVs observed at BRCA2 and RAD51C gene loci in EOC cases, suggests that these CNVs are potentially pathogenic and may contribute to the spectrum of disease-causing mutations in these genes. CNVs are likely to occur in a wider set of susceptibility regions, with potential implications for clinical genetic testing and disease prevention.
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- 2022
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18. Genes reveal traces of common recent demographic history for most of the Uralic-speaking populations
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Tambets, Kristiina, Yunusbayev, Bayazit, Hudjashov, Georgi, Ilumäe, Anne-Mai, Rootsi, Siiri, Honkola, Terhi, Vesakoski, Outi, Atkinson, Quentin, Skoglund, Pontus, Kushniarevich, Alena, Litvinov, Sergey, Reidla, Maere, Metspalu, Ene, Saag, Lehti, Rantanen, Timo, Karmin, Monika, Parik, Jüri, Zhadanov, Sergey I., Gubina, Marina, Damba, Larisa D., Bermisheva, Marina, Reisberg, Tuuli, Dibirova, Khadizhat, Evseeva, Irina, Nelis, Mari, Klovins, Janis, Metspalu, Andres, Esko, Tõnu, Balanovsky, Oleg, Balanovska, Elena, Khusnutdinova, Elza K., Osipova, Ludmila P., Voevoda, Mikhail, Villems, Richard, Kivisild, Toomas, and Metspalu, Mait
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- 2018
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19. nZ,(n + 4)Z-Dienoic fatty acids: a new method for the synthesis and inhibitory action on topoisomerase I and IIα
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D’yakonov, Vladimir A., Dzhemileva, Lilya U., Makarov, Aleksey A., Mulyukova, Alfiya R., Baev, Dmitry S., Khusnutdinova, Elza K., Tolstikova, Tatiana G., and Dzhemilev, Usein M.
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- 2016
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20. Origin and spread of human mitochondrial DNA haplogroup U7
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Sahakyan, Hovhannes, Hooshiar Kashani, Baharak, Tamang, Rakesh, Kushniarevich, Alena, Francis, Amirtharaj, Costa, Marta D, Pathak, Ajai Kumar, Khachatryan, Zaruhi, Sharma, Indu, van Oven, Mannis, Parik, Jüri, Hovhannisyan, Hrant, Metspalu, Ene, Pennarun, Erwan, Karmin, Monika, Tamm, Erika, Tambets, Kristiina, Bahmanimehr, Ardeshir, Reisberg, Tuuli, Reidla, Maere, Achilli, Alessandro, Olivieri, Anna, Gandini, Francesca, Perego, Ugo A., Al-Zahery, Nadia, Houshmand, Massoud, Sanati, Mohammad Hossein, Soares, Pedro, Rai, Ekta, Šarac, Jelena, Šarić, Tena, Sharma, Varun, Pereira, Luisa, Fernandes, Veronica, Černý, Viktor, Farjadian, Shirin, Singh, Deepankar Pratap, Azakli, Hülya, Üstek, Duran, Ekomasova (Trofimova), Natalia, Kutuev, Ildus, Litvinov, Sergei, Bermisheva, Marina, Khusnutdinova, Elza K., Rai, Niraj, Singh, Manvendra, Singh, Vijay Kumar, Reddy, Alla G., Tolk, Helle-Viivi, Cvjetan, Svjetlana, Lauc, Lovorka Barac, Rudan, Pavao, Michalodimitrakis, Emmanuel N., Anagnou, Nicholas P., Pappa, Kalliopi I., Golubenko, Maria V., Orekhov, Vladimir, Borinskaya, Svetlana A, Kaldma, Katrin, Schauer, Monica A., Simionescu, Maya, Gusar, Vladislava, Grechanina, Elena, Govindaraj, Periyasamy, Voevoda, Mikhail, Damba, Larissa, Sharma, Swarkar, Singh, Lalji, Semino, Ornella, Behar, Doron M., Yepiskoposyan, Levon, Richards, Martin B., Metspalu, Mait, Kivisild, Toomas, Thangaraj, Kumarasamy, Endicott, Phillip, Chaubey, Gyaneshwer, Torroni, Antonio, and Villems, Richard
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- 2017
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21. Analysis of CCR5Δ32 Geographic Distribution and Its Correlation with Some Climatic and Geographic Factors
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Limborska, Svetlana A., Balanovsky, Oleg P., Balanovskaya, Elena V., Slominsky, Peter A., Schadrina, Maria I., Livshits, Ludmila A., Kravchenko, Sergey A., Pampuha, Vladimir M., Khusnutdinova, Elza K., and Spitsyn, Victor A.
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- 2002
22. The genome-wide structure of the Jewish people
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Behar, Doron M., Yunusbayev, Bayazit, Metspalu, Mait, Metspalu, Ene, Rosset, Saharon, Parik, Juri, Rootsi, Siiri, Chaubey, Gyaneshwer, Kutuev, Ildus, Yudkovsky, Guennady, Khusnutdinova, Elza K., Balanovsky, Oleg, Semino, Ornella, Pereira, Luisa, Comas, David, Gurwitz, David, Bonne-Tamir, Batsheva, Parfitt, Tudor, Hammer, Michael F., Skorecki, Karl, and Villems, Richard
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DNA microarrays -- Usage -- Research ,Gene expression -- Demographic aspects -- Research -- Usage ,Biological diversity -- Research -- Usage - Abstract
Contemporary Jews comprise an aggregate of ethno-religious communities whose worldwide members identify with each other through various shared religious, historical and cultural traditions (1,2). Historical evidence suggests common origins in the Middle East, followed by migrations leading to the establishment of communities of Jews in Europe, Africa and Asia, in what is termed the Jewish Diaspora (3-5). This complex demographic history imposes special challenges in attempting to address the genetic structure of the Jewish people (6). Although many genetic studies have shed light on Jewish origins and on diseases prevalent among Jewish communities, including studies focusing on uniparentally and biparentally inherited markers (7-16), genome-wide patterns of variation across the vast geographic span of Jewish Diaspora communities and their respective neighbours have yet to be addressed. Here we use high-density bead arrays to genotype individuals from 14 Jewish Diaspora communities and compare these patterns of genome-wide diversity with those from 69 Old World non-Jewish populations, of which 25 have not previously been reported. These samples were carefully chosen to provide comprehensive comparisons between Jewish and non-Jewish populations in the Diaspora, as well as with non-Jewish populations from the Middle East and north Africa. Principal component and structure-like analyses identify previously unrecognized genetic substructure within the Middle East. Most Jewish samples form a remarkably tight subcluster that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. In contrast, Ethiopian Jews (Beta Israel) and Indian Jews (Bene Israel and Cochini) cluster with neighbouring autochthonous populations in Ethiopia and western India, respectively, despite a clear paternal link between the Bene Israel and the Levant. These results cast light on the variegated genetic architecture of the Middle East, and trace the origins of most Jewish Diaspora communities to the Levant., Recently, the capacity to obtain whole-genome genotypes with the use of array technology has provided a robust tool for elucidating fine-scale population structure and aspects of demographic history (17-23). This [...]
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- 2010
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23. The Caucasus as an Asymmetric Semipermeable Barrier to Ancient Human Migrations
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Yunusbayev, Bayazit, Metspalu, Mait, Järve, Mari, Kutuev, Ildus, Rootsi, Siiri, Metspalu, Ene, Behar, Doron M., Varendi, Kärt, Sahakyan, Hovhannes, Khusainova, Rita, Yepiskoposyan, Levon, Khusnutdinova, Elza K., Underhill, Peter A., Kivisild, Toomas, and Villems, Richard
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- 2012
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24. Genomic analyses inform on migration events during the peopling of Eurasia
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Pagani, Luca, Lawson, Daniel John, Jagoda, Evelyn, Mrseburg, Alexander, Eriksson, Anders, Mitt, Mario, Clemente, Florian, Hudjashov, Georgi, DeGiorgio, Michael, Saag, Lauri, Wall, Jeffrey D., Cardona, Alexia, Mgi, Reedik, Sayres, Melissa A. Wilson, Kaewert, Sarah, Inchley, Charlotte, Scheib, Christiana L., Jrve, Mari, Karmin, Monika, Jacobs, Guy S., Antao, Tiago, Iliescu, Florin Mircea, Kushniarevich, Alena, Ayub, Qasim, Tyler-Smith, Chris, Xue, Yali, Yunusbayev, Bayazit, Tambets, Kristiina, Mallick, Chandana Basu, Saag, Lehti, Pocheshkhova, Elvira, Andriadze, George, Muller, Craig, Westaway, Michael C., Lambert, David M., Zoraqi, Grigor, Turdikulova, Shahlo, Dalimova, Dilbar, Sabitov, Zhaxylyk, Sultana, Gazi Nurun Nahar, Lachance, Joseph, Tishkoff, Sarah, Momynaliev, Kuvat, Isakova, Jainagul, Damba, Larisa D., Gubina, Marina, Nymadawa, Pagbajabyn, Evseeva, Irina, Atramentova, Lubov, Utevska, Olga, Ricaut, Franois-Xavier, Brucato, Nicolas, Sudoyo, Herawati, Letellier, Thierry, Cox, Murray P., Barashkov, Nikolay A., karo, Vedrana, Mulahasanovic, Lejla, Primorac, Dragan, Sahakyan, Hovhannes, Mormina, Maru, Eichstaedt, Christina A., Lichman, Daria V., Abdullah, Syafiq, Chaubey, Gyaneshwer, Wee, Joseph T. S., Mihailov, Evelin, Karunas, Alexandra, Litvinov, Sergei, Khusainova, Rita, Ekomasova, Natalya, Akhmetova, Vita, Khidiyatova, Irina, Marjanovi, Damir, Yepiskoposyan, Levon, Behar, Doron M., Balanovska, Elena, Metspalu, Andres, Derenko, Miroslava, Malyarchuk, Boris, Voevoda, Mikhail, Fedorova, Sardana A., Osipova, Ludmila P., Lahr, Marta Mirazn, Gerbault, Pascale, Leavesley, Matthew, Migliano, Andrea Bamberg, Petraglia, Michael, Balanovsky, Oleg, Khusnutdinova, Elza K., Metspalu, Ene, Thomas, Mark G., Manica, Andrea, Nielsen, Rasmus, Villems, Richard, Willerslev, Eske, Kivisild, Toomas, and Metspalu, Mait
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DNA sequencing -- Methods ,Environmental issues ,Science and technology ,Zoology and wildlife conservation - Abstract
Author(s): Luca Pagani (corresponding author) [1, 2, 3]; Daniel John Lawson [4]; Evelyn Jagoda [2, 5]; Alexander Mrseburg [2]; Anders Eriksson [6, 7]; Mario Mitt [8, 9]; Florian Clemente [2, [...]
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- 2016
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25. Association of Kallikrein Gene Polymorphisms With Intracranial Aneurysms
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Weinsheimer, Shantel, Goddard, Katrina A.B., Parrado, Antonio R., Lu, Qing, Sinha, Moumita, Lebedeva, Elena R., Ronkainen, Antti, Niemelä, Mika, Khusnutdinova, Elza K., Khusainova, Rita I., Helin, Katariina, Jääskeläinen, Juha E., Sakovich, Vladimir P., Land, Susan, Kuivaniemi, Helena, and Tromp, Gerard
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- 2007
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26. A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia.
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Romanov, Georgii P., Pshennikova, Vera G., Lashin, Sergey A., Solovyev, Aisen V., Teryutin, Fedor M., Cherdonova, Aleksandra M., Borisova, Tuyara V., Sazonov, Nikolay N., Khusnutdinova, Elza K., Posukh, Olga L., Fedorova, Sardana A., and Barashkov, Nikolay A.
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HEARING disorders ,SIGN language ,DATA distribution ,DATABASES ,DEAF people - Abstract
The absence of comparable epidemiological data challenges the correct estimation of the prevalence of congenital hearing loss (HL) around the world. Sign language (SL) is known as the main type of communication of deaf people. We suggest that the distribution of SL can be interpreted as an indirect indicator of the prevalence of congenital HL. Since a significant part of congenital HL is due to genetic causes, an assessment of the distribution of SL users can reveal regions with an extensive accumulation of hereditary HL. For the first time, we analyzed the data on the distribution of SL users that became available for the total population of Russia by the 2010 census. Seventy-three out of 85 federal regions of Russia were ranked into three groups by the 25
th and 75th percentiles of the proportion of SL users: 14 regions—"low proportion"; 48 regions—"average proportion"; and 11 regions—"high proportion". We consider that the observed uneven prevalence of SL users can reflect underlying hereditary forms of congenital HL accumulated in certain populations by specific genetic background and population structure. At least, the data from this study indicate that the highest proportions of SL users detected in some Siberian regions are consistent with the reported accumulation of specific hereditary HL forms in indigenous Yakut, Tuvinian and Altaian populations. [ABSTRACT FROM AUTHOR]- Published
- 2020
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27. Stereoselective synthesis of 11-phenylundeca-5Z,9Z-dienoic acid and investigation of its human topoisomerase I and IIα inhibitory activity
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D’yakonov, Vladimir A., Dzhemileva, Lilya U., Makarov, Aleksey A., Mulukova, Alfiya R., Baev, Dmitry S., Khusnutdinova, Elza K., Tolstikova, Tatiana G., and Dzhemilev, Usein M.
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- 2015
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28. A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)
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Barashkov, Nikolay A., Romanov, Georgii P., Borisova, Uigulaana P., Solovyev, Aisen V., Pshennikova, Vera G., Teryutin, Fedor M., Bondar, Alexander A., Morozov, Igor V., Khusnutdinova, Elza K., Posukh, Olga L., Burtseva, Tatiana E., Odland, Jon Øyvind, and Fedorova, Sardana A.
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- 2019
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29. Comparison of Predictive Tools on Missense Variants in , , and Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).
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Pshennikova, Vera G., Barashkov, Nikolay A., Romanov, Georgii P., Teryutin, Fedor M., Solov'ev, Aisen V., Gotovtsev, Nyurgun N., Nikanorova, Alena A., Nakhodkin, Sergey S., Sazonov, Nikolay N., Morozov, Igor V., Bondar, Alexander A., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Posukh, Olga L., and Fedorova, Sardana A.
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DEAFNESS ,MICROBIAL virulence ,AMINO acids ,CONNEXIN genetics ,CONTROL groups ,RECEIVER operating characteristic curves - Abstract
In silico predictive software allows assessing the effect of amino acid substitutions on the structure or function of a protein without conducting functional studies. The accuracy of in silico pathogenicity prediction tools has not been previously assessed for variants associated with autosomal recessive deafness 1A (DFNB1A). Here, we identify in silico tools with the most accurate clinical significance predictions for missense variants of the GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes associated with DFNB1A. To evaluate accuracy of selected in silico tools (SIFT, FATHMM, MutationAssessor, PolyPhen-2, CONDEL, MutationTaster, MutPred, Align GVGD, and PROVEAN), we tested nine missense variants with previously confirmed clinical significance in a large cohort of deaf patients and control groups from the Sakha Republic (Eastern Siberia, Russia): Сх26: p.Val27Ile, p.Met34Thr, p.Val37Ile, p.Leu90Pro, p.Glu114Gly, p.Thr123Asn, and p.Val153Ile; Cx30: p.Glu101Lys; Cx31: p.Ala194Thr. We compared the performance of the in silico tools (accuracy, sensitivity, and specificity) by using the missense variants in GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) genes associated with DFNB1A. The correlation coefficient (r) and coefficient of the area under the Receiver Operating Characteristic (ROC) curve as alternative quality indicators of the tested programs were used. The resulting ROC curves demonstrated that the largest coefficient of the area under the curve was provided by three programs: SIFT (AUC = 0.833, p = 0.046), PROVEAN (AUC = 0.833, p = 0.046), and MutationAssessor (AUC = 0.833, p = 0.002). The most accurate predictions were given by two tested programs: SIFT and PROVEAN (Ac = 89%, Se = 67%, Sp = 100%, r = 0.75, AUC = 0.833). The results of this study may be applicable for analysis of novel missense variants of the GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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30. A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)
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Barashkov, Nikolay A., Klarov, Leonid A., Teryutin, Fedor M., Solovyev, Aisen V., Pshennikova, Vera G., Konnikova, Edilia E., Romanov, Georgii P., Tobokhov, Alexander V., Morozov, Igor V., Bondar, Alexander A., Posukh, Olga L., Dzhemileva, Lilya U., Tomsky, Mikhail I., Khusnutdinova, Elza K., and Fedorova, Sardana A.
- Published
- 2018
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31. Assessment of gene-by-sex interaction effect on bone mineral density
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Liu, Ching-Ti Estrada, Karol Yerges-Armstrong, Laura M. and Amin, Najaf Evangelou, Evangelos Li, Guo Minster, Ryan L. and Carless, Melanie A. Kammerer, Candace M. Oei, Ling Zhou, Yanhua Alonso, Nerea Dailiana, Zoe Eriksson, Joel and Garcia-Giralt, Natalia Giroux, Sylvie Husted, Lise Bjerre and Khusainova, Rita I. Koromila, Theodora Kung, Annie WaiChee and Lewis, Joshua R. Masi, Laura Mencej-Bedrac, Simona Nogues, Xavier Patel, Millan S. Prezelj, Janez Richards, J. Brent and Sham, Pak Chung Spector, Timothy Vandenput, Liesbeth and Xiao, Su-Mei Zheng, Hou-Feng Zhu, Kun Balcells, Susana and Brandi, Maria Luisa Frost, Morten Goltzman, David and Gonzalez-Macias, Jesus Karlsson, Magnus Khusnutdinova, Elza K. and Kollia, Panagoula Langdahl, Bente Lomholt Ljunggren, Oesten and Lorentzon, Mattias Marc, Janja Mellstroem, Dan Ohlsson, Claes Olmos, Jose M. Ralston, Stuart H. Riancho, Jose A. and Rousseau, Francois Urreizti, Roser Van Hul, Wim Zarrabeitia, Maria T. Castano-Betancourt, Martha Demissie, Serkalem and Grundberg, Elin Herrera, Lizbeth Kwan, Tony Medina-Gomez, Carolina Pastinen, Tomi Sigurdsson, Gunnar Thorleifsson, Gudmar VanMeurs, Joyce B. J. Blangero, John Hofman, Albert and Liu, Yongmei Mitchell, Braxton D. O'Connell, Jeffrey R. and Oostra, Ben A. Rotter, Jerome I. Stefansson, Kari Streeten, Elizabeth A. Styrkarsdottir, Unnur Thorsteinsdottir, Unnur and Tylavsky, Frances A. Uitterlinden, Andre Cauley, Jane A. and Harris, Tamara B. Ioannidis, John P. A. Psaty, Bruce M. and Robbins, John A. Zillikens, M. Carola VanDuijn, Cornelia M. and Prince, Richard L. Karasik, David Rivadeneira, Fernando and Kiel, Douglas P. Cupples, L. Adrienne Hsu, Yi-Hsiang
- Abstract
Sexual dimorphism in various bone phenotypes, including bone mineral density (BMD), is widely observed; however, the extent to which genes explain these sex differences is unclear. To identify variants with different effects by sex, we examined gene-by-sex autosomal interactions genome-wide, and performed expression quantitative trait loci (eQTL) analysis and bioinformatics network analysis. We conducted an autosomal genome-wide meta-analysis of gene-by-sex interaction on lumbar spine (LS) and femoral neck (FN) BMD in 25,353 individuals from 8 cohorts. In a second stage, we followed up the 12 top single-nucleotide polymorphisms (SNPs; p?1?X?10-5) in an additional set of 24,763 individuals. Gene-by-sex interaction and sex-specific effects were examined in these 12 SNPs. We detected one novel genome-wide significant interaction associated with LS-BMD at the Chr3p26.1-p25.1 locus, near the GRM7 gene (male effect?=?0.02 and p?=?3.0?X?10-5; female effect?=?-0.007 and p?=?3.3?X?10-2), and 11 suggestive loci associated with either FN- or LS-BMD in discovery cohorts. However, there was no evidence for genome-wide significant (p?5?X?10-8) gene-by-sex interaction in the joint analysis of discovery and replication cohorts. Despite the large collaborative effort, no genome-wide significant evidence for gene-by-sex interaction was found to influence BMD variation in this screen of autosomal markers. If they exist, gene-by-sex interactions for BMD probably have weak effects, accounting for less than 0.08% of the variation in these traits per implicated SNP. (c) 2012 American Society for Bone and Mineral Research.
- Published
- 2012
32. A Large-Scale, Consortium-Based Genomewide Association Study of Asthma
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Moffatt, Miriam F. Gut, Ivo G. Demenais, Florence Strachan, David P. Bouzigon, Emmanuelle Heath, Simon von Mutius, Erika and Farrall, Martin Lathrop, Mark Cookson, William O. C. M. and Kumar, Ashish Burney, Peter Jarvis, Debbie Wjst, Matthias and Kogevinas, Manolis Jogi, Rain Janson, Christer Franklin, Karl A. Omenaas, Ernst Leynaert, Benedicte Pin, Isabelle and Heinrich, Joachim Probst-Hensch, Nicole M. Anto, Josep M. and Sunyer, Jordi Maldonado, Jose-Antonio Martinez-Moratalla, Jesus and Urrutia, Isabel Payo, Felix Kauffmann, Francine Dizier, Marie-Helene Siroux, Valerie Boznanski, Andrzej and Braun-Fahrlaender, Charlotte Genuneit, Jon Glas, Juergen and Horak, Elisabeth Kabesch, Michael Pillai, Sreekumar G. and Helms, Peter J. Carlsen, Karin Carlsen, Kai-Hakon Gerritsen, Jorrit Silverman, Michael Sly, Peter Tsanakas, John Von Berg, Andrea Whyte, Moira Blumenthal, Malcolm Imboden, Medea and Rochat, Thierry Thun, Gian Andri Gerbase, Margaret W. and Curjuric, Ivan Gaspoz, Jean-Michel Liu, Lee-Jane S. Wouters, Inge M. Sigsgaard, Torben Heederik, Dick Basinas, Ioannis and Schlunssen, Vivi Omland, Oyvind Cullinan, Paul and Vermeulen, Roel Henderson, John Granell, Raquel McArdle, Wendy L. Smith, George Davey James, Alan L. Hui, Jennie and Palmer, Lyle J. Beilby, John Musk, A. William Laprise, Catherine Hudson, Thomas J. Lemire, Mathieu Daley, Denise and Becker, Allan Chan-Yeung, Moira Sandford, Andrew and Kozyrskyj, Anita L. Pare, Peter Ferguson, Alexander and Dimich-Ward, Helen Watson, Wade T. Freidin, Maxim B. and Bragina, Elena Iu. Deev, Ivan A. Deeva, Eugenia V. and Kobyakova, Olga S. Puzyrev, Valery P. Ogorodova, Ludmila M. and Khusnutdinova, Elza K. Karunas, Alexandra S. Fedorova, Yuliya Y. and Hall, Ian P. Sayers, Ian Tobin, Martin D. Wan, Yize I. and Heaney, Liam G. Al-Momani, Basima A. H. Mansur, Adel H. and Manney, Sarah Thomson, Neil C. Chaudhuri, Rekha Brightling, Christopher E. Bafadhel, Mona Singapuri, Amisha Niven, Robert Simpson, Angela Holloway, John W. Howarth, Peter H. and Polonikov, Alexey V. Ivanov, Vladimir P. Solodilova, Maria A. Melen, Erik Pershagen, Goeran Bergstroem, Anna Kull, Inger Nyberg, Fredrik Wickman, Magnus Soderhall, Cilla and Kere, Juha Postma, Dirkje S. Kerkhof, Marjan Brunekreef, Bert Smit, Henriette A. de Jongste, Johan C. Wijga, Alet and Aalberse, R. C. Hoekstra, Maarten O. Koppelman, Gerard H. and Binia, Aristea Chung, Kian Fan Bhavsar, Pankaj Chow, Florence Macedo, Patricia Menzies-Gow, Andrew van Stiphout, Nicole Bush, Andrew Lee, Young-Ae Esparza-Gordillo, Jorge and Nickel, Renate Wahn, Ulrich Lau, Susanne Marenholz, Ingo and Haahtela, Tari von Hertzen, Leena Jousilahti, Pekka and Laatikainen, Tiina Makela, Mika J. Vartiainen, Erkki and Laitinen, Tarja Balding, David J. Peden, John F. Corda, Eve and Lechner, Doris Besse, Celine Zelenika, Diana Boland, Anne Bacq, Delphine Demonchy, Stephanie Blanche, Helene and Kamatani, Yoichiro von Mutius, Erika Farrall, Martin and Lathrop, Mark Cookson, William O. C. M. GABRIEL Consortium
- Abstract
BACKGROUND Susceptibility to asthma is influenced by genes and environment; implicated genes may indicate pathways for therapeutic intervention. Genetic risk factors may be useful in identifying subtypes of asthma and determining whether intermediate phenotypes, such as elevation of the total serum IgE level, are causally linked to disease. METHODS We carried out a genomewide association study by genotyping 10,365 persons with physician-diagnosed asthma and 16,110 unaffected persons, all of whom were matched for ancestry. We used random-effects pooled analysis to test for association in the overall study population and in subgroups of subjects with childhood-onset asthma (defined as asthma developing before 16 years of age), later-onset asthma, severe asthma, and occupational asthma. RESULTS We observed associations of genomewide significance between asthma and the following single-nucleotide polymorphisms: rs3771166 on chromosome 2, implicating IL1RL1/IL18R1 (P = 3x10(-9)); rs9273349 on chromosome 6, implicating HLA-DQ (P = 7x10(-14)); rs1342326 on chromosome 9, flanking IL33 (P = 9x10(-10)); rs744910 on chromosome 15 in SMAD3 (P = 4x10(-9)); and rs2284033 on chromosome 22 in IL2RB (P = 1.1x10(-8)). Association with the ORMDL3/GSDMB locus on chromosome 17q21 was specific to childhood-onset disease (rs2305480, P = 6x10(-23)). Only HLA-DR showed a significant genomewide association with the total serum IgE concentration, and loci strongly associated with IgE levels were not associated with asthma. CONCLUSIONS Asthma is genetically heterogeneous. A few common alleles are associated with disease risk at all ages. Implicated genes suggest a role for communication of epithelial damage to the adaptive immune system and activation of airway inflammation. Variants at the ORMDL3/GSDMB locus are associated only with childhood-onset disease. Elevation of total serum IgE levels has a minor role in the development of asthma.
- Published
- 2010
33. Between Lake Baikal and the Baltic Sea: genomic history of the gateway to Europe.
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Triska, Petr, Chekanov, Nikolay, Stepanov, Vadim, Khusnutdinova, Elza K., Kumar, Ganesh Prasad Arun, Akhmetova, Vita, Babalyan, Konstantin, Boulygina, Eugenia, Kharkov, Vladimir, Gubina, Marina, Khidiyatova, Irina, Khitrinskaya, Irina, Khrameeva, Ekaterina E., Khusainova, Rita, Konovalova, Natalia, Litvinov, Sergey, Marusin, Andrey, Mazur, Alexandr M., Puzyrev, Valery, and Ivanoshchuk, Dinara
- Subjects
BIOGEOGRAPHY ,POPULATION genetics ,COMPUTATIONAL complexity - Abstract
Background: The history of human populations occupying the plains and mountain ridges separating Europe from Asia has been eventful, as these natural obstacles were crossed westward by multiple waves of Turkic and Uralicspeaking migrants as well as eastward by Europeans. Unfortunately, the material records of history of this region are not dense enough to reconstruct details of population history. These considerations stimulate growing interest to obtain a genetic picture of the demographic history of migrations and admixture in Northern Eurasia. Results: We genotyped and analyzed 1076 individuals from 30 populations with geographical coverage spanning from Baltic Sea to Baikal Lake. Our dense sampling allowed us to describe in detail the population structure, provide insight into genomic history of numerous European and Asian populations, and significantly increase quantity of genetic data available for modern populations in region of North Eurasia. Our study doubles the amount of genome-wide profiles available for this region. We detected unusually high amount of shared identical-by-descent (IBD) genomic segments between several Siberian populations, such as Khanty and Ket, providing evidence of genetic relatedness across vast geographic distances and between speakers of different language families. Additionally, we observed excessive IBD sharing between Khanty and Bashkir, a group of Turkic speakers from Southern Urals region. While adding some weight to the "Finno-Ugric" origin of Bashkir, our studies highlighted that the Bashkir genepool lacks the main "core", being a multi-layered amalgamation of Turkic, Ugric, Finnish and Indo-European contributions, which points at intricacy of genetic interface between Turkic and Uralic populations. Comparison of the genetic structure of Siberian ethnicities and the geography of the region they inhabit point at existence of the "Great Siberian Vortex" directing genetic exchanges in populations across the Siberian part of Asia. Slavic speakers of Eastern Europe are, in general, very similar in their genetic composition. Ukrainians, Belarusians and Russians have almost identical proportions of Caucasus and Northern European components and have virtually no Asian influence. We capitalized on wide geographic span of our sampling to address intriguing question about the place of origin of Russian Starovers, an enigmatic Eastern Orthodox Old Believers religious group relocated to Siberia in seventeenth century. A comparative reAdmix analysis, complemented by IBD sharing, placed their roots in the region of the Northern European Plain, occupied by North Russians and Finno-Ugric Komi and Karelian people. Russians from Novosibirsk and Russian Starover exhibit ancestral proportions close to that of European Eastern Slavs, however, they also include between five to 10 % of Central Siberian ancestry, not present at this level in their European counterparts. Conclusions: Our project has patched the hole in the genetic map of Eurasia: we demonstrated complexity of genetic structure of Northern Eurasians, existence of East-West and North-South genetic gradients, and assessed different inputs of ancient populations into modern populations. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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34. An STR database on the Volga-Ural population
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Zhivotovsky, Lev A., Akhmetova, Vita L., Fedorova, Sardana A., Zhirkova, Victoria V., and Khusnutdinova, Elza K.
- Published
- 2009
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35. Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia.
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Barashkov, Nikolay A., Teryutin, Fedor M., Pshennikova, Vera G., Solovyev, Aisen V., Klarov, Leonid A., Solovyeva, Natalya A., Kozhevnikov, Andrei A., Vasilyeva, Lena M., Fedotova, Elvira E., Pak, Maria V., Lekhanova, Sargylana N., Zakharova, Elena V., Savvinova, Kyunney E., Gotovtsev, Nyurgun N., Rafailo, Adyum M., Luginov, Nikolay V., Alexeev, Anatoliy N., Posukh, Olga L., Dzhemileva, Lilya U., and Khusnutdinova, Elza K.
- Subjects
AGE factors in disease ,HEARING disorder diagnosis ,GENETIC mutation ,POPULATION health ,NEUROSCIENCES - Abstract
Age-Related Hearing Impairment (ARHI) is one of the frequent sensory disorders registered in 50% of individuals over 80 years. ARHI is a multifactorial disorder due to environmental and poor-known genetic components. In this study, we present the data on age-related hearing impairment of 48 heterozygous carriers of mutation IVS1+1G>A (GJB2 gene) and 97 subjects with GJB2 genotype wt/wt in the Republic of Sakha/Yakutia (Eastern Siberia, Russia). This subarctic territory was found as the region with the most extensive accumulation of mutation IVS1+1G>A in the world as a result of founder effect in the unique Yakut population isolate. The GJB2 gene resequencing and detailed audiological analysis in the frequency range 0.25, 0.5, 1.0, 2.0, 4.0, 8.0 kHz were performed in all examined subjects that allowed to investigate genotype-phenotype correlations between the presence of single mutation IVS1+1G>A and hearing of subjects from examined groups. We revealed the linear correlation between increase of average hearing thresholds at speech frequencies (PTA
0.5,1.0,2.0,4.0 kHz ) and age of individuals with GJB2 genotype IVS1+1G>A/wt (rs = 0.499, p = 0.006860 for males and rs = 0.427, p = 0.000277 for females). Moreover, the average hearing thresholds on high frequency (8.0 kHz) in individuals with genotype IVS1+1G>A/wt (both sexes) were significantly worse than in individuals with genotype wt/wt (p<0.05). Age of hearing loss manifestation in individuals with genotype IVS1+1G>A/wt was estimated to be ∼40 years (rs = 0.504, p = 0.003). These findings demonstrate that the single IVS1+1G>A mutation (GJB2) is associated with age-related hearing impairment (ARHI) of the IVS1+1G>A carriers in the Yakuts. [ABSTRACT FROM AUTHOR]- Published
- 2014
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36. Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia).
- Author
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Kononova, Sardana K., Sidorova, Oksana G., Fedorova, Sardana A., Platonov, Fedor A., Izhevskaya, Vera L., and Khusnutdinova, Elza K.
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BIOETHICS ,HEALTH self-care ,EPIDEMIOLOGY ,GENETIC disorders ,DIAGNOSIS - Abstract
Background. Prenatal diagnosis of congenital and hereditary diseases is a priority for the development of medical technologies in Russia. However, there are not many published research results on bioethical issues of prenatal DNA testing. Objective. The main goal of the article is to describe some of the bioethical aspects of prenatal DNA diagnosis of hereditary diseases with late onset in genetic counselling practice in the Sakha Republic (Yakutia) - a far north-eastern region of Russia. Methods. The methods used in the research are genetic counselling, invasive chorionic villus biopsy procedures, molecular diagnosis, social and demographic characteristics of patients. Results. In 10 years, 48 (76%) pregnant women from families tainted with hereditary spinocerebellar ataxia type 1 and 15 pregnant women from families with myotonic dystrophy have applied for medical and genetic counselling in order to undergo prenatal DNA testing. The average number of applications is 7-8 per year. There are differences in prenatal genetic counselling approaches. Conclusion. It is necessary to develop differentiated ethical approaches depending on the mode of inheritance, age of manifestation, and clinical polymorphism of hereditary disease. [ABSTRACT FROM AUTHOR]
- Published
- 2014
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37. Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia.
- Author
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Fedorova, Sardana A., Reidla, Maere, Metspalu, Ene, Metspalu, Mait, Rootsi, Siiri, Tambets, Kristiina, Trofimova, Natalya, Zhadanov, Sergey I., Kashani, Baharak Hooshiar, Olivieri, Anna, Voevoda, Mikhail I., Osipova, Ludmila P., Platonov, Fedor A., Tomsky, Mikhail I., Khusnutdinova, Elza K., Torroni, Antonio, and Villems, Richard
- Subjects
CELL nuclei ,GENETICS ,COLONIZATION (Ecology) ,Y chromosome - Abstract
Background: Sakha - an area connecting South and Northeast Siberia - is significant for understanding the history of peopling of Northeast Eurasia and the Americas. Previous studies have shown a genetic contiguity between Siberia and East Asia and the key role of South Siberia in the colonization of Siberia. Results: We report the results of a high-resolution phylogenetic analysis of 701 mtDNAs and 318 Y chromosomes from five native populations of Sakha (Yakuts, Evenks, Evens, Yukaghirs and Dolgans) and of the analysis of more than 500,000 autosomal SNPs of 758 individuals from 55 populations, including 40 previously unpublished samples from Siberia. Phylogenetically terminal clades of East Asian mtDNA haplogroups C and D and Y-chromosome haplogroups N1c, N1b and C3, constituting the core of the gene pool of the native populations from Sakha, connect Sakha and South Siberia. Analysis of autosomal SNP data confirms the genetic continuity between Sakha and South Siberia. Maternal lineages D5a2a2, C4a1c, C4a2, C5b1b and the Yakut-specific STR sub-clade of Y-chromosome haplogroup N1c can be linked to a migration of Yakut ancestors, while the paternal lineage C3c was most likely carried to Sakha by the expansion of the Tungusic people. MtDNA haplogroups Z1a1b and Z1a3, present in Yukaghirs, Evens and Dolgans, show traces of different and probably more ancient migration(s). Analysis of both haploid loci and autosomal SNP data revealed only minor genetic components shared between Sakha and the extreme Northeast Siberia. Although the major part of West Eurasian maternal and paternal lineages in Sakha could originate from recent admixture with East Europeans, mtDNA haplogroups H8, H20a and HV1a1a, as well as Y-chromosome haplogroup J, more probably reflect an ancient gene flow from West Eurasia through Central Asia and South Siberia. Conclusions: Our high-resolution phylogenetic dissection of mtDNA and Y-chromosome haplogroups as well as analysis of autosomal SNP data suggests that Sakha was colonized by repeated expansions from South Siberia with minor gene flow from the Lower Amur/Southern Okhotsk region and/or Kamchatka. The minor West Eurasian component in Sakha attests to both recent and ongoing admixture with East Europeans and an ancient gene flow from West Eurasia. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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38. Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus.
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Rootsi, Siiri, Myres, Natalie M, Lin, Alice A, Järve, Mari, King, Roy J, Kutuev, Ildus, Cabrera, Vicente M, Khusnutdinova, Elza K, Varendi, Kärt, Sahakyan, Hovhannes, Behar, Doron M, Khusainova, Rita, Balanovsky, Oleg, Balanovska, Elena, Rudan, Pavao, Yepiskoposyan, Levon, Bahmanimehr, Ardeshir, Farjadian, Shirin, Kushniarevich, Alena, and Herrera, Rene J
- Subjects
Y chromosome ,HAPLOIDY ,GENOMES ,PHYLOGENY ,GENEALOGY - Abstract
Haplogroup G, together with J2 clades, has been associated with the spread of agriculture, especially in the European context. However, interpretations based on simple haplogroup frequency clines do not recognize underlying patterns of genetic diversification. Although progress has been recently made in resolving the haplogroup G phylogeny, a comprehensive survey of the geographic distribution patterns of the significant sub-clades of this haplogroup has not been conducted yet. Here we present the haplogroup frequency distribution and STR variation of 16 informative G sub-clades by evaluating 1472 haplogroup G chromosomes belonging to 98 populations ranging from Europe to Pakistan. Although no basal G-M201* chromosomes were detected in our data set, the homeland of this haplogroup has been estimated to be somewhere nearby eastern Anatolia, Armenia or western Iran, the only areas characterized by the co-presence of deep basal branches as well as the occurrence of high sub-haplogroup diversity. The P303 SNP defines the most frequent and widespread G sub-haplogroup. However, its sub-clades have more localized distribution with the U1-defined branch largely restricted to Near/Middle Eastern and the Caucasus, whereas L497 lineages essentially occur in Europe where they likely originated. In contrast, the only U1 representative in Europe is the G-M527 lineage whose distribution pattern is consistent with regions of Greek colonization. No clinal patterns were detected suggesting that the distributions are rather indicative of isolation by distance and demographic complexities. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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39. Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
- Author
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Barashkov, Nikolay A, Dzhemileva, Lilya U, Fedorova, Sardana A, Teryutin, Fedor M, Posukh, Olga L, Fedotova, Elvira E, Lobov, Simeon L, and Khusnutdinova, Elza K
- Subjects
GENETICS of deafness ,YAKUT (Turkic people) ,GENETIC mutation ,DEAFNESS ,GENETIC disorders ,GENETIC carriers - Abstract
Hereditary forms of hearing impairment (HI) caused by GJB2 (Cx26) mutations are the frequent sensory disorders registered among newborns in various human populations. In this study, we present data on the molecular, audiological and population features of autosomal recessive deafness 1A (DFNB1A) associated with the donor splicing site IVS1+1G>A mutation of GJB2 gene in Yakut population isolate of the Sakha Republic (Yakutia) located in Eastern Siberia (Russian Federation). The Yakut population exhibits high frequency of some Mendelian disorders, which are rare in other populations worldwide. Mutational analysis of GJB2 gene in 86 unrelated Yakut patients with congenital HI without other clinical features has been performed. In this study, we registered a large cohort of Yakut patients homozygous for the IVS1+1G>A mutation (70 unrelated deaf subjects in total). Detailed audiological analysis of 40 deaf subjects with genotype IVS1+1G>A/IVS1+1G>A revealed significant association of this genotype with mostly symmetrical bilateral severe to profound HI (85% severe-to-profound HI versus 15% mild-to-moderate HI, P<0.05). The highest among six investigated Eastern Siberian populations carrier frequency of the IVS1+1G>A mutation (11.7%) has been found in Yakut population. Reconstruction of 140 haplotypes with IVS1+1G>A mutation demonstrates the common origin of all mutant chromosomes found in Yakuts. The age of mutation was estimated to be approximately 800 years. These findings characterize Eastern Siberia as the region with the most extensive accumulation of the IVS1+1G>A mutation in the world as a result of founder effect. [ABSTRACT FROM AUTHOR]
- Published
- 2011
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40. A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe.
- Author
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Myres, Natalie M., Rootsi, Siiri, Lin, Alice A, Järve, Mari, King, Roy J., Kutuev, Ildus, Cabrera, Vicente M., Khusnutdinova, Elza K., Pshenichnov, Andrey, Yunusbayev, Bayazit, Balanovsky, Oleg, Balanovska, Elena, Rudan, Pavao, Baldovic, Marian, Herrera, Rene J., Chiaroni, Jacques, Di Cristofaro, Julie, Villems, Richard, Kivisild, Toomas, and Underhill, Peter A
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HUMAN evolution ,Y chromosome ,NEANDERTHALS ,BANDKERAMIK culture ,HUMAN population genetics ,HIGH performance liquid chromatography - Abstract
The phylogenetic relationships of numerous branches within the core Y-chromosome haplogroup R-M207 support a West Asian origin of haplogroup R1b, its initial differentiation there followed by a rapid spread of one of its sub-clades carrying the M269 mutation to Europe. Here, we present phylogeographically resolved data for 2043 M269-derived Y-chromosomes from 118 West Asian and European populations assessed for the M412 SNP that largely separates the majority of Central and West European R1b lineages from those observed in Eastern Europe, the Circum-Uralic region, the Near East, the Caucasus and Pakistan. Within the M412 dichotomy, the major S116 sub-clade shows a frequency peak in the upper Danube basin and Paris area with declining frequency toward Italy, Iberia, Southern France and British Isles. Although this frequency pattern closely approximates the spread of the Linearbandkeramik (LBK), Neolithic culture, an advent leading to a number of pre-historic cultural developments during the past ≤10 thousand years, more complex pre-Neolithic scenarios remain possible for the L23(xM412) components in Southeast Europe and elsewhere. [ABSTRACT FROM AUTHOR]
- Published
- 2011
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41. Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.
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Dzhemileva, Lilya U, Barashkov, Nikolay A, Posukh, Olga L, Khusainova, Rita I, Akhmetova, Vita L, Kutuev, Ildus A, Gilyazova, Irina R, Tadinova, Vera N, Fedorova, Sardana A, Khidiyatova, Irina M, Lobov, Simeon L, and Khusnutdinova, Elza K
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HEARING disorders ,GENETIC mutation ,GENETICS ,DEAFNESS ,ETHNIC groups ,HOMEOSTASIS - Abstract
Hearing impairment is one of the most common disorders of sensorineural function and the incidence of profound prelingual deafness is about 1 per 1000 at birth. GJB2 gene mutations make the largest contribution to hereditary hearing impairment. The spectrum and prevalence of some GJB2 mutations are known to be dependent on the ethnic origin of the population. This study presents data on the carrier frequencies of major GJB2 mutations, c.35delG, c.167delT and c.235delC, among 2308 healthy persons from 18 various populations of Eurasia: Russians, Bashkirs, Tatars, Chuvashes, Udmurts, Komi-Permyaks and Mordvins (Volga-Ural region of Russia); Belarusians and Ukrainians (East Europe); Abkhazians, Avars, Cherkessians and Ingushes (Caucasus); Kazakhs, Uighurs and Uzbeks (Central Asia); and Yakuts and Altaians (Siberia). The data on c.35delG and c.235delC mutation prevalence in the studied ethnic groups can be used to investigate the prospective founder effect in the origin and prevalence of these mutations in Eurasia and consequently in populations around the world. [ABSTRACT FROM AUTHOR]
- Published
- 2010
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42. Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a.
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Underhill, Peter A., Myres, Natalie M., Rootsi, Siiri, Metspalu, Mait, Zhivotovsky, Lev A., King, Roy J., Lin, Alice A., Chow, Cheryl-Emiliane T., Semino, Ornella, Battaglia, Vincenza, Kutuev, Ildus, Järve, Mari, Chaubey, Gyaneshwer, Ayub, Qasim, Mohyuddin, Aisha, Mehdi, S. Qasim, Sengupta, Sanghamitra, Rogaev, Evgeny I., Khusnutdinova, Elza K., and Pshenichnov, Andrey
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Y chromosome ,GENES ,ASIANS ,EUROPEANS ,CHROMOSOMES - Abstract
Human Y-chromosome haplogroup structure is largely circumscribed by continental boundaries. One notable exception to this general pattern is the young haplogroup R1a that exhibits post-Glacial coalescent times and relates the paternal ancestry of more than 10% of men in a wide geographic area extending from South Asia to Central East Europe and South Siberia. Its origin and dispersal patterns are poorly understood as no marker has yet been described that would distinguish European R1a chromosomes from Asian. Here we present frequency and haplotype diversity estimates for more than 2000 R1a chromosomes assessed for several newly discovered SNP markers that introduce the onset of informative R1a subdivisions by geography. Marker M434 has a low frequency and a late origin in West Asia bearing witness to recent gene flow over the Arabian Sea. Conversely, marker M458 has a significant frequency in Europe, exceeding 30% in its core area in Eastern Europe and comprising up to 70% of all M17 chromosomes present there. The diversity and frequency profiles of M458 suggest its origin during the early Holocene and a subsequent expansion likely related to a number of prehistoric cultural developments in the region. Its primary frequency and diversity distribution correlates well with some of the major Central and East European river basins where settled farming was established before its spread further eastward. Importantly, the virtual absence of M458 chromosomes outside Europe speaks against substantial patrilineal gene flow from East Europe to Asia, including to India, at least since the mid-Holocene. [ABSTRACT FROM AUTHOR]
- Published
- 2010
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43. Decreased Rate of Evolution in Y Chromosome STR Loci of Increased Size of the Repeat Unit.
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Järve, Mari, Zhivotovsky, Lev A., Rootsi, Siiri, Help, Hela, Rogaev, Evgeny I., Khusnutdinova, Elza K., Kivisild, Toomas, and Sanchez, Juan J.
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MEDICAL research ,Y chromosome abnormalities ,PLEOMORPHIC fungi ,SEX chromosomes ,CHROMOSOME abnormalities ,HUMAN chromosome abnormalities ,GENETIC mutation ,PHYLOGENY ,GENETICS - Abstract
Background: Polymorphic Y chromosome short tandem repeats (STRs) have been widely used in population genetic and evolutionary studies. Compared to di-, tri-, and tetranucleotide repeats, STRs with longer repeat units occur more rarely and are far less commonly used. Principal Findings: In order to study the evolutionary dynamics of STRs according to repeat unit size, we analysed variation at 24 Y chromosome repeat loci: 1 tri-, 14 tetra-, 7 penta-, and 2 hexanucleotide loci. According to our results, penta- and hexanucleotide repeats have approximately two times lower repeat variance and diversity than tri- and tetranucleotide repeats, indicating that their mutation rate is about half of that of tri- and tetranucleotide repeats. Thus, STR markers with longer repeat units are more robust in distinguishing Y chromosome haplogroups and, in some cases, phylogenetic splits within established haplogroups. Conclusions: Our findings suggest that Y chromosome STRs of increased repeat unit size have a lower rate of evolution, which has significant relevance in population genetic and evolutionary studies. [ABSTRACT FROM AUTHOR]
- Published
- 2009
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44. Polymorphisms of the serotonin transporter gene (5-HTTLPR, A/G SNP in 5-HTTLPR, and STin2 VNTR) and their relation to personality traits in healthy individuals from Russia.
- Author
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Kazantseva, Anastasiya V., Gaysina, Daria A., Faskhutdinova, Gulnaz G., Noskova, Tatyana, Malykh, Sergey B., and Khusnutdinova, Elza K.
- Abstract
Numerous studies have reported association of the serotonin transporter gene (5-HTT) polymorphisms and neuroticism and traits characterizing sociability and activity. This study aimed to define a single genotype effect of three polymorphic markers in the 5-HTT gene (5-HTTLPR, A/G SNP in 5-HTTLPR and STin2 VNTR) and to check possible association of the 5-HTT haplotypes and personality traits [assessed with Eysenck Personality Inventory (EPI) and Temperament and Character Inventory (TCI) questionnaires] in 301 healthy young individuals.To investigate single genotype and haplotype effects of all polymorphic markers, multivariate analysis of variance and haplotype trend regression analyses were conducted correspondingly.Individuals with STin2.10 allele scored significantly lower on Neuroticism (EPI) (P=0.007) and Harm Avoidance (P=0.005) in the overall sample. The same pattern of association was reported in women: carriers of STin2.10 allele scored lower on Harm Avoidance (TCI) (P=0.008). Haplotype trend regression analyses revealed that carriers of S12 haplotype had lower sociability-related traits such as Extraversion (EPI) and Novelty Seeking (TCI), whereas Harm Avoidance (TCI) (anxiety-related trait) was higher. Opposite association was observed for S10 haplotype: Extraversion (EPI) score was higher, whereas Harm Avoidance (TCI) score was lower in carriers of this haplotype.As single polymorphism effect of STin2 was observed in relation to anxiety-related traits, opposite S10 and S12 haplotype effects on Neuroticism and Harm Avoidance could be explained by the larger impact of STin2 polymorphism. Controversially, we consider that the variance in sociability-related traits is related to specific haplotypes of 5-HTT gene. [ABSTRACT FROM AUTHOR]
- Published
- 2008
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45. A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe.
- Author
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Rootsi, Siiri, Zhivotovsky, Lev A., Baldovič, Marian, Kayser, Manfred, Kutuev, Ildus A., Khusainova, Rita, Bermisheva, Marina A., Gubina, Marina, Fedorova, Sardana A., Ilumäe, Anne-Mai, Khusnutdinova, Elza K., Voevoda, Mikhail I., Osipova, Ludmila P., Stoneking, Mark, Lin, Alice A., Ferak, Vladimir, Parik, Jüri, Kivisild, Toomas, Underhill, Peter A., and Villems, Richard
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HUMAN genetics ,Y chromosome ,SEX chromosomes ,HUMAN chromosomes ,MALES - Abstract
A large part of Y chromosome lineages in East European and East Asian human populations belong to haplogroup (hg) NO, which is composed of two sister clades N-M231 and O-M175. The O-clade is relatively old (around 30 thousand years (ky)) and encompasses the vast majority of east and Southeast Asian male lineages, as well as significant proportion of those in Oceanian males. On the other hand, our detailed analysis of hg N suggests that its high frequency in east Europe is due to its more recent expansion westward on a counter-clock northern route from inner Asia/southern Siberia, approximately 12–14 ky ago. The widespread presence of hg N in Siberia, together with its absence in Native Americans, implies its spread happened after the founder event for the Americas. The most frequent subclade N3, arose probably in the region of present day China, and subsequently experienced serial bottlenecks in Siberia and secondary expansions in eastern Europe. Another branch, N2, forms two distinctive subclusters of STR haplotypes, Asian (N2-A) and European (N2-E), the latter now mostly distributed in Finno-Ugric and related populations. These phylogeographic patterns provide evidence consistent with male-mediated counter-clockwise late Pleistocene–Holocene migratory trajectories toward Northwestern Europe from an ancestral East Asian source of Paleolithic heritage.European Journal of Human Genetics (2007) 15, 204–211. doi:10.1038/sj.ejhg.5201748; published online 6 December 2006 [ABSTRACT FROM AUTHOR]
- Published
- 2007
- Full Text
- View/download PDF
46. Ethylene-Cytokinin Interaction Determines Early Defense Response of Wheat against Stagonospora nodorum Berk.
- Author
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Veselova, Svetlana V., Nuzhnaya, Tatyana V., Burkhanova, Guzel F., Rumyantsev, Sergey D., Khusnutdinova, Elza K., and Maksimov, Igor V.
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CYTOKININS ,WHEAT ,PLANT hormones ,REACTIVE oxygen species ,DISEASE resistance of plants ,SALICYLIC acid - Abstract
Ethylene, salicylic acid (SA), and jasmonic acid are the key phytohormones involved in plant immunity, and other plant hormones have been demonstrated to interact with them. The classic phytohormone cytokinins are important participants of plant defense signaling. Crosstalk between ethylene and cytokinins has not been sufficiently studied as an aspect of plant immunity and is addressed in the present research. We compared expression of the genes responsible for hormonal metabolism and signaling in wheat cultivars differing in resistance to Stagonospora nodorum in response to their infection with fungal isolates, whose virulence depends on the presence of the necrotrophic effector SnTox3. Furthermore, we studied the action of the exogenous cytokinins, ethephon (2-chloroethylphosphonic acid, ethylene-releasing agent) and 1-methylcyclopropene (1-MCP, inhibitor of ethylene action) on infected plants. Wheat susceptibility was shown to develop due to suppression of reactive oxygen species production and decreased content of active cytokinins brought about by SnTox3-mediated activation of the ethylene signaling pathway. SnTox3 decreased cytokinin content most quickly by its activated glucosylation in an ethylene-dependent manner and, furthermore, by oxidative degradation and inhibition of biosynthesis in ethylene-dependent and ethylene-independent manners. Exogenous zeatin application enhanced wheat resistance against S. nodorum through inhibition of the ethylene signaling pathway and upregulation of SA-dependent genes. Thus, ethylene inhibited triggering of SA-dependent resistance mechanism, at least in part, by suppression of the cytokinin signaling pathway. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
47. The facile synthesis of the 5Z,9Z-dienoic acids and their topoisomerase I inhibitory activity.
- Author
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D'yakonov, Vladimir A., Makarov, Aleksey A., Dzhemileva, Lilya U., Makarova, Elina Kh., Khusnutdinova, Elza K., and Dzhemilev, Usein M.
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DIOLEFINS synthesis ,DNA topoisomerase I ,GRIGNARD reagents ,ALIPHATIC compounds ,CHEMOSELECTIVITY - Abstract
An original, effective approach to the synthesis of natural and synthetic 5Z,9Z-dienoic acids in high yields (61–67%) and with high selectivity (>98%) was developed. The approach is based on the use of the new intermolecular catalytic cross cyclomagnesiation of terminal aliphatic and oxygenated 1,2-dienes upon treatment with Grignard reagents in the presence of the Cp
2 TiCl2 catalyst. High activity of (5Z,9Z)-5,9-eicosadienoic acid as a human topoisomerase I inhibitor at concentrations above 0.1 μM was elucidated. [ABSTRACT FROM AUTHOR]- Published
- 2013
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- View/download PDF
48. Genomic analyses inform on migration events during the peopling of Eurasia
- Author
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Pagani, Luca, Lawson, Daniel John, Jagoda, Evelyn, Mörseburg, Alexander, Eriksson, Anders, Mitt, Mario, Clemente, Florian, Hudjashov, Georgi, DeGiorgio, Michael, Saag, Lauri, Wall, Jeffrey D, Cardona, Alexia, Mägi, Reedik, Wilson Sayres, Melissa A, Kaewert, Sarah, Inchley, Charlotte, Scheib, Christiana L, Järve, Mari, Karmin, Monika, Jacobs, Guy S, Antao, Tiago, Iliescu, Florin Mircea, Kushniarevich, Alena, Ayub, Qasim, Tyler-Smith, Chris, Xue, Yali, Yunusbayev, Bayazit, Tambets, Kristiina, Mallick, Chandana Basu, Saag, Lehti, Pocheshkhova, Elvira, Andriadze, George, Muller, Craig, Westaway, Michael C, Lambert, David M, Zoraqi, Grigor, Turdikulova, Shahlo, Dalimova, Dilbar, Sabitov, Zhaxylyk, Sultana, Gazi Nurun Nahar, Lachance, Joseph, Tishkoff, Sarah, Momynaliev, Kuvat, Isakova, Jainagul, Damba, Larisa D, Gubina, Marina, Nymadawa, Pagbajabyn, Evseeva, Irina, Atramentova, Lubov, Utevska, Olga, Ricaut, François-Xavier, Brucato, Nicolas, Sudoyo, Herawati, Letellier, Thierry, Cox, Murray P, Barashkov, Nikolay A, Skaro, Vedrana, Mulahasanovic, Lejla, Primorac, Dragan, Sahakyan, Hovhannes, Mormina, Maru, Eichstaedt, Christina A, Lichman, Daria V, Abdullah, Syafiq, Chaubey, Gyaneshwer, Wee, Joseph TS, Mihailov, Evelin, Karunas, Alexandra, Litvinov, Sergei, Khusainova, Rita, Ekomasova, Natalya, Akhmetova, Vita, Khidiyatova, Irina, Marjanović, Damir, Yepiskoposyan, Levon, Behar, Doron M, Balanovska, Elena, Metspalu, Andres, Derenko, Miroslava, Malyarchuk, Boris, Voevoda, Mikhail, Fedorova, Sardana A, Osipova, Ludmila P, Lahr, Marta Mirazón, Gerbault, Pascale, Leavesley, Matthew, Migliano, Andrea Bamberg, Petraglia, Michael, Balanovsky, Oleg, Khusnutdinova, Elza K, Metspalu, Ene, Thomas, Mark G, Manica, Andrea, Nielsen, Rasmus, Villems, Richard, Willerslev, Eske, Kivisild, Toomas, and Metspalu, Mait
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Estonia ,Gene Flow ,Heterozygote ,New Guinea ,Asia ,Continental Population Groups ,Fossils ,Genome, Human ,Human Migration ,Population Dynamics ,Datasets as Topic ,Genomics ,3. Good health ,Europe ,Oceanic Ancestry Group ,Genetics, Population ,Africa ,Animals ,Humans ,History, Ancient ,Neanderthals - Abstract
High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago., Support was provided by: Estonian Research Infrastructure Roadmap grant no 3.2.0304.11-0312; Australian Research Council Discovery grants (DP110102635 and DP140101405) (D.M.L., M.W. and E.W.); Danish National Research Foundation; the Lundbeck Foundation and KU2016 (E.W.); ERC Starting Investigator grant (FP7 - 261213) (T.K.); Estonian Research Council grant PUT766 (G.C. and M.K.); EU European Regional Development Fund through the Centre of Excellence in Genomics to Estonian Biocentre (R.V.; M.Me. and A.Me.), and Centre of Excellence for Genomics and Translational Medicine Project No. 2014-2020.4.01.15-0012 to EGC of UT (A.Me.) and EBC (M.Me.); Estonian Institutional Research grant IUT24-1 (L.S., M.J., A.K., B.Y., K.T., C.B.M., Le.S., H.Sa., S.L., D.M.B., E.M., R.V., G.H., M.K., G.C., T.K. and M.Me.) and IUT20-60 (A.Me.); French Ministry of Foreign and European Affairs and French ANR grant number ANR-14-CE31-0013-01 (F.-X.R.); Gates Cambridge Trust Funding (E.J.); ICG SB RAS (No. VI.58.1.1) (D.V.L.); Leverhulme Programme grant no. RP2011-R-045 (A.B.M., P.G. and M.G.T.); Ministry of Education and Science of Russia; Project 6.656.2014/K (S.A.F.); NEFREX grant funded by the European Union (People Marie Curie Actions; International Research Staff Exchange Scheme; call FP7-PEOPLE-2012-IRSES-number 318979) (M.Me., G.H. and M.K.); NIH grants 5DP1ES022577 05, 1R01DK104339-01, and 1R01GM113657-01 (S.Tis.); Russian Foundation for Basic Research (grant N 14-06-00180a) (M.G.); Russian Foundation for Basic Research; grant 16-04-00890 (O.B. and E.B); Russian Science Foundation grant 14-14-00827 (O.B.); The Russian Foundation for Basic Research (14-04-00725-a), The Russian Humanitarian Scientific Foundation (13-11-02014) and the Program of the Basic Research of the RAS Presidium “Biological diversity” (E.K.K.); Wellcome Trust and Royal Society grant WT104125AIA & the Bristol Advanced Computing Research Centre (http://www.bris.ac.uk/acrc/) (D.J.L.); Wellcome Trust grant 098051 (Q.A.; C.T.-S. and Y.X.); Wellcome Trust Senior Research Fellowship grant 100719/Z/12/Z (M.G.T.); Young Explorers Grant from the National Geographic Society (8900-11) (C.A.E.); ERC Consolidator Grant 647787 ‘LocalAdaptatio’ (A.Ma.); Program of the RAS Presidium “Basic research for the development of the Russian Arctic” (B.M.); Russian Foundation for Basic Research grant 16-06-00303 (E.B.); a Rutherford Fellowship (RDF-10-MAU-001) from the Royal Society of New Zealand (M.P.C.).
49. ChemInform Abstract: The Facile Synthesis of the 5Z,9Z-Dienoic Acids and Their Topoisomerase I Inhibitory Activity.
- Author
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D'yakonov, Vladimir A., Makarov, Aleksey A., Dzhemileva, Lilya U., Makarova, Elina Kh., Khusnutdinova, Elza K., and Dzhemilev, Usein M.
- Published
- 2014
- Full Text
- View/download PDF
50. No Evidence from Genome-Wide Data of a Khazar Origin for the Ashkenazi Jews
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Behar, Doron M., Metspalu, Mait, Baran, Yael, Kopelman, Naama M., Yunusbayev, Bayazit, Gladstein, Ariella, Tzur, Shay, Sahakyan, Hovhannes, Bahmanimehr, Ardeshir, Yepiskoposyan, Levon, Tambets, Kristiina, Khusnutdinova, Elza K., Kushniarevich, Alena, Balanovsky, Oleg, Balanovsky, Elena, Kovacevic, Lejla, Marjanovic, Damir, Mihailov, Evelin, Kouvatsi, Anastasia, Triantaphyllidis, Costas, King, Roy J., Semino, Ornella, Torroni, Antonio, Hammer, Michael F., Metspalu, Ene, Skorecki, Karl, Rosset, Saharon, Halperin, Eran, Villems, Richard, and Rosenberg, Noah A.
- Published
- 2013
- Full Text
- View/download PDF
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