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2. Contributors

Author

Abdallah, Wafaa E., primary, Abdel Aal, Mohamed H., additional, Abd-Elsalam, Kamel A., additional, Aguirre-Becerra, Humberto, additional, Ahmad, Furqan, additional, Ahmad, Junaid, additional, Akram, Umar, additional, Albalwe, Fauzeya Mateq, additional, Alenezi, Muneefah Abdullah, additional, Arif, Muhammad Saleem, additional, Ashfaq, Muhammad, additional, Badshah, Lal, additional, Banerjee, Debdulal, additional, Basit, Abdul, additional, Bayram, Sinan, additional, Behar, Neha, additional, Behera, Anindita, additional, Caltzonzin-Rabell, Valeria, additional, Chu, Luan Luong, additional, Contreras-Medina, Luis M., additional, Darem, Sabrine, additional, Darwish, Doaa Bahaa Eldin, additional, Dubey, Sumit Kumar, additional, Dutta, Riya, additional, El Hadj-Khelil, Aminata Ould, additional, El-Mahdy, Omima M., additional, Farid, Babar, additional, Feregrino-Pérez, Ana A., additional, Flores-Aguilar, Priscila S., additional, Gacem, Mohamed Amine, additional, García-Trejo, Juan F., additional, Guzmán-Cruz, Rosario, additional, Haidar, Waqas, additional, Haider, Muhammad Zeeshan, additional, Jampílek, Josef, additional, Jha, Yachana, additional, Kamel, Ehab A.R., additional, Khan, Ayesha, additional, Kráľová, Katarína, additional, Kumar, Tijendra, additional, Kurian, Noble K, additional, Li, Wen-Jun, additional, Mathur, Shivangi, additional, Mehmood, Mirza Abid, additional, Mehta, Sahil, additional, Mishra, Shweta, additional, Mohamed, Heba I., additional, Muhammad, Murad, additional, Mushtaq, Iqra, additional, My, Linh Quyen, additional, Narang, Urja, additional, Owolabi, Iyiola O., additional, Pandey, Vimal, additional, Parihar, Rashmi, additional, Petchkongkaew, Awanwee, additional, Prasher, Parteek, additional, Quang, Huy Nguyen, additional, Ranjan, Rajiv, additional, Rauf, Areeba, additional, Rizwan, Muhammad, additional, Saddique, Muhammad Abu Bakar, additional, Sáenz-de-la-O, Diana, additional, Sami, Adnan, additional, Sánchez-Velázquez, Julieta, additional, Santra, Hiran Kanti, additional, Shafiq, Muhammad, additional, Shah, Adnan Ali, additional, Shah, Syed Tanveer, additional, Shahzad, Sher Muhammad, additional, Sharma, Mousmee, additional, Sharma, Samiksha, additional, Singh, Deeksha, additional, Singh, Jagriti, additional, Singh, Vineeta, additional, Syrish, Afira, additional, Tariq, Mohsin, additional, Telli, Alia, additional, Ullah, Inayat, additional, Ullah, Izhar, additional, Umar, Aisha, additional, ur Rehman, Shoaib, additional, Waché, Yves, additional, Wahab, Abdul, additional, and Yasmeen, Tahira, additional

Published
2024
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5. Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

Author

Okubadejo, Njideka, Ojo, Oluwadamilola, Abiodun, Oladunni, Achoru, Charles, Agabi, Osigwe, Agulanna, Uchechi, Akinyemi, Rufus, Ali, Mohammed, Ani-Osheku, Ifeyinwa, Arigbodi, Ohwotemu, Bello, Abiodun, Erameh, Cyril, Farombi, Temitope, Fawale, Michael, Imarhiagbe, Frank, Iwuozo, Emmanuel, Komolafe, Morenikeji, Nwani, Paul, Nwazor, Ernest, Nyandaiti, Yakub, Obiabo, Yahaya, Odeniyi, Olanike, Odiase, Francis, Ojini, Francis, Onwuegbuzie, Gerald, Osaigbovo, Godwin, Osemwegie, Nosakhare, Oshinaike, Olajumoke, Otubogun, Folajimi, Oyakhire, Shyngle, Ozomma, Simon, Samuel, Sarah, Taiwo, Funmilola, Wahab, Kolawole, Zubair, Yusuf, Gams Massi, Daniel, Gueumekane Bila lamou, Eric, Njamnshi Nfor, Leonard, Magnerou, Mélanie Annick, Fogang Fogoum, Yannick, Shalash, Ali, El-FawaI, Hassan, Khedr, Eman, Fawi, Gharib, A. Eltantawi, Mohamed, Salama, Mohamed, El-Jaafary, Shaimaa, Hamed, Sharifa, Tafesse Mengesha, Abenet, Alemayehu Ayele, Biniyam, Melka Oda, Dereje, Zenebe Zewde, Yared, Debebe Gelan, Yohanesse, AkpaIu, Albert, Charway-Felli, Augustina, Stephen Sarfo, Fred, Adjei, Patrick, Obese, Vida, Bocoum, Abdoulaye, Koita, Abdou, Oumar Guinto, Cheick, Coulibaly, Toumany, Maiga, Youssoufa, Kone, Zaynab, Bell, Abiodun, Adebowale, Akintunde A., Akpekpe, John, lyagba, Alagoma, Wulgo, Ali Mohammed, Arabambi, Babawale, Agu, Christian, Dike, Franklin, Ishola, Ismail, Abiodun, Kehinde, Ekenze, Oluchi, Agabi Osigwe, Paul, Balarabe, Salisu, Abubakar, Sani, Williams, Uduak, Fall, Maouly, Mamadou Diop, Alassane, Hilaire Dominique, Ewodo Touna, Mochan, Andre, Modi, Girish, Dindayal, Saiesha, Ali Awadelkareem, Eman, Elsayed, Inas, Dahawi, Maha, Awadelkareem, Mosab Ali, Misbah, Sarah, Mushengez, Brighton, Kimambo, Henrika, Msango, Leonard, Adebayo, Philip, OKeng, Kigocha, Diekker, Marieke, URassa, Sarah, Gouider, Riadh, Ben Djebara, Mouna, Gargouri, Amina, Kacem, Imen, Nasri, Amina, Mrabet, Saloua, Sghaier, Ikram, Mkada, Imen, Atadzhanov, Masharip, Chishimba, Lorraine, Rizig, Mie, Jama, Fatumah, Okunoye, Olaitan, Hardy, John, Houlden, Henry, Singleton, Andrew, Nalls, Mike, Shamim, Ejaz, Jonas, Cabell, Williamson, Jared, Hall, Deborah A., Rosenbaum, Marc, Davis, Staci, Dean, Marissa, Cromer, Candace, Smith, Jenna, Ruffrage, Lauren, Richardson, Joseph, Sipma, Rebeka, Xie, Tao, Padmanaban, Manesh, Warren, Natalie, Mercado, Tomas, Disbrow, Elizabeth, Chauppeta, Brian, Thomas-Dean, Fermine, Toms, Jamie, Lofton, Katelyn, Rawls, Ashley, Rizer, Kyle, Black, Nieci, Solle, Justin, O'Grady, Alyssa, Sherer, Todd, Fiske, Brian, Başak, A. Nazlı, Tan, Ai Huey, Noyce, Alastair, Akpalu, Albert, Espay, Alberto, Martínez-Carrasco, Alejandro, Medina, Alex, Zimprich, Alexander, Brice, Alexis, Karimova, Altynay, Hernandez, Alvaro, Illarionova, Anastasia, Quattrone, Andrea, Singleton, Andrew B, Sobering, Andrew K., Vinuela, Angel, Sanyaolu, Arinola, Schumacher-Schuh, Artur F., Kishore, Asha, Ahmad-Annuar, Azlina, Al Mubarak, Bashayer, Tang, Beisha, Pizarro Galleguillos, Benjamin, Jeon, Beomseok, Siddiqi, Bernadette, Casey, Bradford, Mollenhauer, Brit, Carroll, Camille, Rieder, Carlos, Pantazis, Caroline B., Comart, Charisse, Lin, Chin-Hsien, Klein, Christine, Bale, Claire, Shepherd, Claire E, Wegel, Claire, Blauwendraat, Cornelis, Vitale, Dan, Martinez-Ramirez, Daniel, Hall, Deborah, Hernandez, Dena, KP, Divya, Nguyen, Duan, Fon, Edward A., Dadiotis, Efthymios, Riley, Ekemini, Iakovenko, Elena, Stafford, Ellie, Gatto, Emilia M, Valente, Enza Maria, Vollstedt, Eva-Juliane, Faghri, Faraz, Genc, Gencer, Xiromerisiou, Georgia, Hadjigorgiou, Georgios, Hiu-Fai Chan, Germaine, Arboleda, Gonzalo, Kaishibayeva, Gulnaz, Höglinger, Günter, Leonard, Hampton, Madoev, Harutyun, Iwaki, Hirotaka, Chen, Honglei, Wu, Hsiu-Chuan, Shang, Huifang, Morris, Huw R, F. Mata, Ignacio, Keller Sarmiento, Ignacio Juan, Dagklis, Ioannis, Tarnanas, Ioannis, Aasly, Jan O., Hoenicka, Janet, Corvol, Jean-Christophe, Foo, Jia Nee, Guo, Jifeng, Junker, Johanna, Carr, Jonathan, Kim, Jonggeol Jeff, Orozco, Jorge, Jankovic, Joseph, Shulman, Joshua, Hunter, Julie, Solle, Justin C., Murphy, Kaileigh, Nuytemans, Karen, Kieburtz, Karl, Lohmann, Katja, Marek, Kenneth, Mok, Kin Ying, Kumar, Kishore, Levine, Kristin, Chahine, Lana M., Lange, Lara M., Pihlstrøm, Lasse, Screven, Laurel, Stefanis, Leonidas, Shulman, Lisa, Marsili, Luca, Parnetti, Lucilla, Kuhl, Maggie, Funayama, Manabu, Sharma, Manu, Tan, Manuela, Kauffman, Marcelo, Miranda, Marcelo, Bustamante, Maria Leonor, Stamelou, Maria, Periñan Tocino, Maria Teresa, Cornejo-Olivas, Mario, Jimenez del Rio, Marlene, Makarious, Mary B, Koretsky, Mathew, Rodriguez-Violante, Mayela, Ellis, Melina, Avenali, Micol, Rentería, Miguel E., Inca-Martines, Miguel z, Nalls, Mike A., Ibrahim Norlinah, Mohamed, Umair, Muhammad, Ip, Nancy, Louie, Naomi, Cheung, Nelson Yuk-Fai, Mencacci, Niccolò Emanuele, Wood, Nicholas, Williams, Nigel, Hattori, Nobutaka, Abdul Murad, Nor Azian, Ibrahim, Norlinah Mohamed, Monchi, Oury, Öztop Çakmak, Özgür, Öztop Çakmak, Patricio Öztop Çakmak, Lewis, Patrick Alfryn, Pastor, Pau, Reyes-Pérez, Paula, Saffie Awad, Paula, Chana, Pedro, Chan, Phillip, Kung, Pin-Jui, Chan, Piu, Pal, Pramod, Lingappa Kukkle, Prashanth, Ojha, Rajeev, Kaiyrzhanov, Rauan, Krüger, Rejko, Amouri, Rim, Weil, Rimona, Rajan, Roopa, Alcalay, Roy, Wu, Ruey-Meei, Borgohain, Rupam, Sassi, Samia Ben, Khachatryan, Samson, Bandres-Ciga, Sara, El-Sadig, Sarah, Wu, Serena, Groppa, Sergio, Azmin, Shahrul, Lim, Shen-Yang, Ur-Rehman, Shoaib, Ertan, Sibel, Stott, Simon, Jasaitye, Simona, Chowdhury, Sohini, Dumanis, Sonya, Bardien, Soraya, Lubbe, Steven, Koks, Sulev, Dey, Sumit, Foroud, Tatiana, Fon, Ted, Beach, Thomas, Gasser, Thomas, Anderson, Tim, Nguyen, Toan, Schirinzi, Tommaso, Shiraishi, Tomotaka, Pitcher, Toni, Tumas, Vitor, Mohamed, Wael, Kamel, Walaa A., Luo, Wei, Zhou, Xiaopu, Zewde, Yared Z., Song, Yeajin, Wen, Yi, Wu, Yihru, Joong Kim, Yun, Tavadyan, Zaruhi, Fang, Zih-Hua, Ojo, Oluwadamilola Omolara, Crea, Peter Wild, Abiodun, Oladunni Victoria, Levine, Kristin S, Abubakar, Sani Atta, Achoru, Charles Obiora, Adeniji, Olaleye Akinmola, Agabi, Osigwe Paul, Koretsky, Mathew J, Hall, Deborah A, Akinyemi, Rufus Olusola, Ali, Mohammed Wulgo, Shamim, Ejaz A, Padmanaban, Mahesh, Arigbodi, Ohwotemu Michael, Standaert, David G, Bello, Abiodun Hamzat, Dean, Marissa N, Erameh, Cyril Oshomah, Farombi, Temitope Hannah, Fawale, Michael Bimbola, Billingsley, Kimberley J, Imarhiagbe, Frank Aiwansoba, Jerez, Pilar Alvarez, Iwuozo, Emmanuel Uzodinma, Baker, Breeana, Komolafe, Morenikeji Adeyoyin, Malik, Laksh, Nwani, Paul Osemeke, Daida, Kensuke, Nwazor, Ernest Okwundu, Miano-Burkhardt, Abigail, Nyandaiti, Yakub Wilberforce, Obiabo, Yahaya Olugbo, Kluss, Jillian H, Odeniyi, Olanike Adedoyin, Hernandez, Dena G, Odiase, Francis Ehidiamen, Tayebi, Nahid, Ojini, Francis Ibe, Sidranksy, Ellen, Onwuegbuzie, Gerald Awele, D'Souza, Andrea M, Osaigbovo, Godwin Osawaru, Berhe, Bahafta, Reed, Xylena, Oshinaike, Olajumoke Olufemi, Leonard, Hampton L, Otubogun, Folajimi Morenikeji, Alvarado, Chelsea X, Oyakhire, Shyngle Imiewan, Ozomma, Simon Izuchukwu, Samuel, Sarah Chabiri, Taiwo, Funmilola Tolulope, Wahab, Kolawole Wasiu, Zubair, Yusuf Agboola, Kim, Jonggeol Jeffrey, Nalls, Mike A, Heilbron, Karl, Norcliffe-Kaufmann, Lucy, and Okubadejo, Njideka Ulunma

Published
2023
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7. Functional Genomics in Cotton

Author

Ahmad, Furqan, primary, Fatima, Akash, additional, Khanum, Plosha, additional, Ur Rehman, Shoaib, additional, Saddique, Muhammad Abu Bakar, additional, Khan, Mahmood Alam, additional, and Khan, Zulqurnain, additional

Published
2022
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8. Understanding the role of the fructose-1,6-bisphosphatase gene for enhancing the photosynthetic rate in Arabidopsis thaliana.

Author

Gulzar, Fatima, Ahmad, Raza, Suk-Yoon Kwan, Khan, Zulqurnain, Alharbi, Sulaiman Ali, Shah, Mohmmad Maroof, ur Rehman, Shoaib, Siddique, Maria, Ansari, Mohammad Javed, Shahzadi, Irum, Bakar Saddique, Muhammad Abu, Ishaq, Muhmmad Zahid, and Waheed, Ummara

Subjects
PHOTOSYNTHETIC rates, WATER efficiency, REGULATOR genes, TRANSGENIC plants, WILD plants
Abstract

Transgenic Arabidopsis thaliana (ecotype Columbia) was successfully transformed with the gene fructose-1,6-bisphosphatase (FBPase) and named as AtFBPase plants. Transgenic plants exhibited stable transformation, integration and significantly higher expressions for the transformed gene. Morphological evaluation of transgenic plants showed increased plant height (35 cm), number of leaves 25), chlorophyll contents (28%), water use efficiency (increased from 1.5 to 2.6 µmol CO2 µmol-1 H2O) and stomatal conductance (20%), which all resulted in an enhanced photosynthetic rate 2.7 µmol m-2 s-1) compared to wild type plants. This study suggests the vital role of FBPase gene in the modification of regulatory pathways to enhance the photosynthetic rate, which can also be utilised for economic crops in future. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

Author

Rizig, Mie, primary, Bandres-Ciga, Sara, additional, Makarious, Mary B, additional, Ojo, Oluwadamilola Omolara, additional, Crea, Peter Wild, additional, Abiodun, Oladunni Victoria, additional, Levine, Kristin S, additional, Abubakar, Sani Atta, additional, Achoru, Charles Obiora, additional, Vitale, Dan, additional, Adeniji, Olaleye Akinmola, additional, Agabi, Osigwe Paul, additional, Koretsky, Mathew J, additional, Agulanna, Uchechi, additional, Hall, Deborah A, additional, Akinyemi, Rufus Olusola, additional, Xie, Tao, additional, Ali, Mohammed Wulgo, additional, Shamim, Ejaz A, additional, Ani-Osheku, Ifeyinwa, additional, Padmanaban, Mahesh, additional, Arigbodi, Ohwotemu Michael, additional, Standaert, David G, additional, Bello, Abiodun Hamzat, additional, Dean, Marissa N, additional, Erameh, Cyril Oshomah, additional, Elsayed, Inas, additional, Farombi, Temitope Hannah, additional, Okunoye, Olaitan, additional, Fawale, Michael Bimbola, additional, Billingsley, Kimberley J, additional, Imarhiagbe, Frank Aiwansoba, additional, Jerez, Pilar Alvarez, additional, Iwuozo, Emmanuel Uzodinma, additional, Baker, Breeana, additional, Komolafe, Morenikeji Adeyoyin, additional, Malik, Laksh, additional, Nwani, Paul Osemeke, additional, Daida, Kensuke, additional, Nwazor, Ernest Okwundu, additional, Miano-Burkhardt, Abigail, additional, Nyandaiti, Yakub Wilberforce, additional, Fang, Zih-Hua, additional, Obiabo, Yahaya Olugbo, additional, Kluss, Jillian H, additional, Odeniyi, Olanike Adedoyin, additional, Hernandez, Dena G, additional, Odiase, Francis Ehidiamen, additional, Tayebi, Nahid, additional, Ojini, Francis Ibe, additional, Sidranksy, Ellen, additional, Onwuegbuzie, Gerald Awele, additional, D'Souza, Andrea M, additional, Osaigbovo, Godwin Osawaru, additional, Berhe, Bahafta, additional, Osemwegie, Nosakhare, additional, Reed, Xylena, additional, Oshinaike, Olajumoke Olufemi, additional, Leonard, Hampton L, additional, Otubogun, Folajimi Morenikeji, additional, Alvarado, Chelsea X, additional, Oyakhire, Shyngle Imiewan, additional, Ozomma, Simon Izuchukwu, additional, Samuel, Sarah Chabiri, additional, Taiwo, Funmilola Tolulope, additional, Wahab, Kolawole Wasiu, additional, Zubair, Yusuf Agboola, additional, Iwaki, Hirotaka, additional, Kim, Jonggeol Jeffrey, additional, Morris, Huw R, additional, Hardy, John, additional, Nalls, Mike A, additional, Heilbron, Karl, additional, Norcliffe-Kaufmann, Lucy, additional, Blauwendraat, Cornelis, additional, Houlden, Henry, additional, Singleton, Andrew, additional, Okubadejo, Njideka Ulunma, additional, Okubadejo, Njideka, additional, Ojo, Oluwadamilola, additional, Abiodun, Oladunni, additional, Achoru, Charles, additional, Agabi, Osigwe, additional, Akinyemi, Rufus, additional, Ali, Mohammed, additional, Arigbodi, Ohwotemu, additional, Bello, Abiodun, additional, Erameh, Cyril, additional, Farombi, Temitope, additional, Fawale, Michael, additional, Imarhiagbe, Frank, additional, Iwuozo, Emmanuel, additional, Komolafe, Morenikeji, additional, Nwani, Paul, additional, Nwazor, Ernest, additional, Nyandaiti, Yakub, additional, Obiabo, Yahaya, additional, Odeniyi, Olanike, additional, Odiase, Francis, additional, Ojini, Francis, additional, Onwuegbuzie, Gerald, additional, Osaigbovo, Godwin, additional, Oshinaike, Olajumoke, additional, Otubogun, Folajimi, additional, Oyakhire, Shyngle, additional, Ozomma, Simon, additional, Samuel, Sarah, additional, Taiwo, Funmilola, additional, Wahab, Kolawole, additional, Zubair, Yusuf, additional, Gams Massi, Daniel, additional, Gueumekane Bila lamou, Eric, additional, Njamnshi Nfor, Leonard, additional, Magnerou, Mélanie Annick, additional, Fogang Fogoum, Yannick, additional, Shalash, Ali, additional, El-FawaI, Hassan, additional, Khedr, Eman, additional, Fawi, Gharib, additional, A. Eltantawi, Mohamed, additional, Salama, Mohamed, additional, El-Jaafary, Shaimaa, additional, Hamed, Sharifa, additional, Tafesse Mengesha, Abenet, additional, Alemayehu Ayele, Biniyam, additional, Melka Oda, Dereje, additional, Zenebe Zewde, Yared, additional, Debebe Gelan, Yohanesse, additional, AkpaIu, Albert, additional, Charway-Felli, Augustina, additional, Stephen Sarfo, Fred, additional, Adjei, Patrick, additional, Obese, Vida, additional, Bocoum, Abdoulaye, additional, Koita, Abdou, additional, Oumar Guinto, Cheick, additional, Coulibaly, Toumany, additional, Maiga, Youssoufa, additional, Kone, Zaynab, additional, Bell, Abiodun, additional, Adebowale, Akintunde A., additional, Akpekpe, John, additional, lyagba, Alagoma, additional, Wulgo, Ali Mohammed, additional, Arabambi, Babawale, additional, Agu, Christian, additional, Dike, Franklin, additional, Ishola, Ismail, additional, Abiodun, Kehinde, additional, Ekenze, Oluchi, additional, Agabi Osigwe, Paul, additional, Balarabe, Salisu, additional, Abubakar, Sani, additional, Williams, Uduak, additional, Fall, Maouly, additional, Mamadou Diop, Alassane, additional, Hilaire Dominique, Ewodo Touna, additional, Mochan, Andre, additional, Modi, Girish, additional, Dindayal, Saiesha, additional, Ali Awadelkareem, Eman, additional, Dahawi, Maha, additional, Awadelkareem, Mosab Ali, additional, Misbah, Sarah, additional, Mushengez, Brighton, additional, Kimambo, Henrika, additional, Msango, Leonard, additional, Adebayo, Philip, additional, OKeng, Kigocha, additional, Diekker, Marieke, additional, URassa, Sarah, additional, Gouider, Riadh, additional, Ben Djebara, Mouna, additional, Gargouri, Amina, additional, Kacem, Imen, additional, Nasri, Amina, additional, Mrabet, Saloua, additional, Sghaier, Ikram, additional, Mkada, Imen, additional, Atadzhanov, Masharip, additional, Chishimba, Lorraine, additional, Rizig, Mie, additional, Jama, Fatumah, additional, Nalls, Mike, additional, Shamim, Ejaz, additional, Jonas, Cabell, additional, Williamson, Jared, additional, Hall, Deborah A., additional, Rosenbaum, Marc, additional, Davis, Staci, additional, Dean, Marissa, additional, Cromer, Candace, additional, Smith, Jenna, additional, Ruffrage, Lauren, additional, Richardson, Joseph, additional, Sipma, Rebeka, additional, Padmanaban, Manesh, additional, Warren, Natalie, additional, Mercado, Tomas, additional, Disbrow, Elizabeth, additional, Chauppeta, Brian, additional, Thomas-Dean, Fermine, additional, Toms, Jamie, additional, Lofton, Katelyn, additional, Rawls, Ashley, additional, Rizer, Kyle, additional, Black, Nieci, additional, Solle, Justin, additional, O'Grady, Alyssa, additional, Sherer, Todd, additional, Fiske, Brian, additional, Başak, A. Nazlı, additional, Tan, Ai Huey, additional, Noyce, Alastair, additional, Akpalu, Albert, additional, Espay, Alberto, additional, Martínez-Carrasco, Alejandro, additional, Medina, Alex, additional, Zimprich, Alexander, additional, Brice, Alexis, additional, Karimova, Altynay, additional, Hernandez, Alvaro, additional, Illarionova, Anastasia, additional, Quattrone, Andrea, additional, Singleton, Andrew B, additional, Sobering, Andrew K., additional, Vinuela, Angel, additional, Sanyaolu, Arinola, additional, Schumacher-Schuh, Artur F., additional, Kishore, Asha, additional, Ahmad-Annuar, Azlina, additional, Al Mubarak, Bashayer, additional, Tang, Beisha, additional, Pizarro Galleguillos, Benjamin, additional, Jeon, Beomseok, additional, Siddiqi, Bernadette, additional, Casey, Bradford, additional, Mollenhauer, Brit, additional, Carroll, Camille, additional, Rieder, Carlos, additional, Pantazis, Caroline B., additional, Comart, Charisse, additional, Lin, Chin-Hsien, additional, Klein, Christine, additional, Bale, Claire, additional, Shepherd, Claire E, additional, Wegel, Claire, additional, Martinez-Ramirez, Daniel, additional, Hall, Deborah, additional, Hernandez, Dena, additional, KP, Divya, additional, Nguyen, Duan, additional, Fon, Edward A., additional, Dadiotis, Efthymios, additional, Riley, Ekemini, additional, Iakovenko, Elena, additional, Stafford, Ellie, additional, Gatto, Emilia M, additional, Valente, Enza Maria, additional, Vollstedt, Eva-Juliane, additional, Faghri, Faraz, additional, Genc, Gencer, additional, Xiromerisiou, Georgia, additional, Hadjigorgiou, Georgios, additional, Hiu-Fai Chan, Germaine, additional, Arboleda, Gonzalo, additional, Kaishibayeva, Gulnaz, additional, Höglinger, Günter, additional, Leonard, Hampton, additional, Madoev, Harutyun, additional, Chen, Honglei, additional, Wu, Hsiu-Chuan, additional, Shang, Huifang, additional, F. Mata, Ignacio, additional, Keller Sarmiento, Ignacio Juan, additional, Dagklis, Ioannis, additional, Tarnanas, Ioannis, additional, Aasly, Jan O., additional, Hoenicka, Janet, additional, Corvol, Jean-Christophe, additional, Foo, Jia Nee, additional, Guo, Jifeng, additional, Junker, Johanna, additional, Carr, Jonathan, additional, Kim, Jonggeol Jeff, additional, Orozco, Jorge, additional, Jankovic, Joseph, additional, Shulman, Joshua, additional, Hunter, Julie, additional, Solle, Justin C., additional, Murphy, Kaileigh, additional, Nuytemans, Karen, additional, Kieburtz, Karl, additional, Lohmann, Katja, additional, Marek, Kenneth, additional, Mok, Kin Ying, additional, Kumar, Kishore, additional, Levine, Kristin, additional, Chahine, Lana M., additional, Lange, Lara M., additional, Pihlstrøm, Lasse, additional, Screven, Laurel, additional, Stefanis, Leonidas, additional, Shulman, Lisa, additional, Marsili, Luca, additional, Parnetti, Lucilla, additional, Kuhl, Maggie, additional, Funayama, Manabu, additional, Sharma, Manu, additional, Tan, Manuela, additional, Kauffman, Marcelo, additional, Miranda, Marcelo, additional, Bustamante, Maria Leonor, additional, Stamelou, Maria, additional, Periñan Tocino, Maria Teresa, additional, Cornejo-Olivas, Mario, additional, Jimenez del Rio, Marlene, additional, Koretsky, Mathew, additional, Rodriguez-Violante, Mayela, additional, Ellis, Melina, additional, Avenali, Micol, additional, Rentería, Miguel E., additional, Inca-Martines, Miguel z, additional, Nalls, Mike A., additional, Ibrahim Norlinah, Mohamed, additional, Umair, Muhammad, additional, Ip, Nancy, additional, Louie, Naomi, additional, Cheung, Nelson Yuk-Fai, additional, Mencacci, Niccolò Emanuele, additional, Wood, Nicholas, additional, Williams, Nigel, additional, Hattori, Nobutaka, additional, Abdul Murad, Nor Azian, additional, Ibrahim, Norlinah Mohamed, additional, Monchi, Oury, additional, Öztop Çakmak, Özgür, additional, Öztop Çakmak, Patricio Öztop Çakmak, additional, Lewis, Patrick Alfryn, additional, Pastor, Pau, additional, Reyes-Pérez, Paula, additional, Saffie Awad, Paula, additional, Chana, Pedro, additional, Chan, Phillip, additional, Kung, Pin-Jui, additional, Chan, Piu, additional, Pal, Pramod, additional, Lingappa Kukkle, Prashanth, additional, Ojha, Rajeev, additional, Kaiyrzhanov, Rauan, additional, Krüger, Rejko, additional, Amouri, Rim, additional, Weil, Rimona, additional, Rajan, Roopa, additional, Alcalay, Roy, additional, Wu, Ruey-Meei, additional, Borgohain, Rupam, additional, Sassi, Samia Ben, additional, Khachatryan, Samson, additional, El-Sadig, Sarah, additional, Wu, Serena, additional, Groppa, Sergio, additional, Azmin, Shahrul, additional, Lim, Shen-Yang, additional, Ur-Rehman, Shoaib, additional, Ertan, Sibel, additional, Stott, Simon, additional, Jasaitye, Simona, additional, Chowdhury, Sohini, additional, Dumanis, Sonya, additional, Bardien, Soraya, additional, Lubbe, Steven, additional, Koks, Sulev, additional, Dey, Sumit, additional, Foroud, Tatiana, additional, Fon, Ted, additional, Beach, Thomas, additional, Gasser, Thomas, additional, Anderson, Tim, additional, Nguyen, Toan, additional, Schirinzi, Tommaso, additional, Shiraishi, Tomotaka, additional, Pitcher, Toni, additional, Tumas, Vitor, additional, Mohamed, Wael, additional, Kamel, Walaa A., additional, Luo, Wei, additional, Zhou, Xiaopu, additional, Zewde, Yared Z., additional, Song, Yeajin, additional, Wen, Yi, additional, Wu, Yihru, additional, Joong Kim, Yun, additional, and Tavadyan, Zaruhi, additional

Published
2023
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12. Mutational analysis of SARS-CoV-2 ORF6-KPNA2 binding interface and identification of potent small molecule inhibitors to recuse the host immune system.

Author

Suleman, Muhammad, Said, Afsheen, Khan, Haji, Ur Rehman, Shoaib, Alshammari, Abdulrahman, Crovella, Sergio, and Yassine, Hadi M.

Subjects
SARS-CoV-2, SMALL molecules, IMMUNE system, COVID-19 pandemic
Abstract

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) surfaced on 31 December, 2019, and was identified as the causative agent of the global COVID-19 pandemic, leading to a pneumonia-like disease. One of its accessory proteins, ORF6, has been found to play a critical role in immune evasion by interacting with KPNA2 to antagonize IFN signaling and production pathways, resulting in the inhibition of IRF3 and STAT1 nuclear translocation. Since various mutations have been observed in ORF6, therefore, a comparative binding, biophysical, and structural analysis was used to reveal how these mutations affect the virus's ability to evade the human immune system. Among the identifiedmutations, the V9F, V24A,W27L, and I33T, were found to have a highly destabilizing effect on the protein structure of ORF6. Additionally, the molecular docking analysis of wildtype andmutant ORF6 and KPNA2 revealed the docking score of - 53.72 kcal/mol for wildtype while, -267.90 kcal/mol, -258.41kcal/mol, -254.51 kcal/mol and -268.79 kcal/mol for V9F, V24A, W27L, and I33T respectively. As compared to the wildtype the V9F showed a stronger binding affinity with KPNA2 which is further verified by the binding free energy (-42.28 kcal/mol) calculation. Furthermore, to halt the binding interface of the ORF6-KPNA2 complex, we used a computational molecular search of potential natural products. A multi-step virtual screening of the African natural database identified the top 5 compounds with best docking scores of -6.40 kcal/mol, -6.10 kcal/mol, -6.09 kcal/mol, -6.06 kcal/mol, and -6.03 kcal/mol for tophit1-5 respectively. Subsequent all-atoms simulations of these top hits revealed consistent dynamics, indicating their stability and their potential to interact effectively with the interface residues. In conclusion, our study represents the first attempt to establish a foundation for understanding the heightened infectivity of new SARS-CoV-2 variants and provides a strong impetus for the development of novel drugs against them. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Genome-wide characterization and sequence polymorphism analyses of cysteine-rich poly comb-like protein in Glycine max

Author

Nisar, Tayyaba, Tahir, Muhammad Hammad Nadeem, Iqbal, Shahid, Sajjad, Muhammad, Nadeem, Muhammad Azhar, Qanmber, Ghulam, Baig, Ayesha, Khan, Zulqurnain, Zhao, Zhengyun, Geng, Zhide, and Ur Rehman, Shoaib

Subjects
Plant Science
Abstract

Cysteine-rich poly comb-like protein (CPP) is a member of cysteine-rich transcription factors that regulates plant growth and development. In the present work, we characterized twelve CPP transcription factors encoding genes in soybean (Glycine max). Phylogenetic analyses classified CPP genes into six clades. Sequence logos analyses between G. max and G. soja amino acid residues exhibited high conservation. The presence of growth and stress-related cis-acting elements in the upstream regions of GmCPPs highlight their role in plant development and tolerance against abiotic stress. Ka/Ks levels showed that GmCPPs experienced limited selection pressure with limited functional divergence arising from segmental or whole genome duplication events. By using the PAN-genome of soybean, a single nucleotide polymorphism was identified in GmCPP-6. To perform high throughput genotyping, a kompetitive allele-specific PCR (KASP) marker was developed. Association analyses indicated that GmCPP-6-T allele of GmCPP-6 (in exon region) was associated with higher thousand seed weight under both water regimes (well-water and water-limited). Taken together, these results provide vital information to further decipher the biological functions of CPP genes in soybean molecular breeding.

Published
2022

17. Heat Shock Protein-70 is expressed in Higher Quantities under Thermal Stress Conditions in Longevity Individuals.

Author

Fatima, Tehreem, Khan, Jabbar, Shafiq, Hamid, Muhammad, Dost, Rafi, Muhammad, and ur Rehman, Shoaib

Abstract

The cellular response to stress is mediated by intracellular proteins, called heat shock proteins (HSPs). Among various known stressors, heat is a major factor that induces the production of HSP70. Keeping in view the very hot conditions of Dera Ismail Khan (D.I. Khan) division where the temperature remains at 45-50°C during the months of June to September, it was hypothesized that heat stress conditions do induce the overexpression of HSPs, especially Hsp70. It was thus attempted to find out the possible role of Hsp70 in those human being having the age of 90 years or above, called longevity people, against heat stress conditions. Whole blood samples of 45 longevity individuals and 20 samples of control people were collected in D. I. Khan during September 2018 to October, 2019 after proper approval from Gomal University ethical review board and written consent of each individual was taken prior to collection of blood sample. For serum collection, blood samples were centrifuged at 1000xg for 15 minutes. Quantitative measurement of Hsp70 protein was done using sandwich ELISA technique. The maximum serum Hsp70 level observed was 42ng/ml and minimum serum Hsp70 value was 13ng/ml, with median value of 28ng/ml. In control group, maximum concentration observed was 38ng/ml while the minimum serum level was 18ng/ml with median value of 13ng/ml. In longevity males, serum Hsp70 levels increased in individuals between 89 to 91 years of age, peaked between 92 to 97 years but comparatively lower having the age of above 98 years. On the other hand, serum concentration of Hsp70 in longevity females were highest in those having 89 to 92 years, lower in 93 to 97 years and, like males, lowest having age above 98 years. The study hence, showed that longevity individuals had higher quantities of serum Hsp70 compared to control group, and again, males contained higher concentration than longevity females, showing that thermal stress was the agent leading to over-expression of Hsp70 especially in longevity individuals but in longevity individuals. Whether this increased expression had any impact on longevity is still not clear that needs to be deciphered. [ABSTRACT FROM AUTHOR]

Published
2023
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18. Genome-Wide Characterization and Sequence Polymorphism Analyses of Glycine max Fibrillin (FBN) Revealed Its Role in Response to Drought Condition.

Author

Zafer, Muhammad Zeshan, Tahir, Muhammad Hammad Nadeem, Khan, Zulqurnain, Sajjad, Muhammad, Gao, Xiangkuo, Bakhtavar, Muhammad Amir, Waheed, Ummara, Siddique, Maria, Geng, Zhide, and Ur Rehman, Shoaib

Subjects
FIBRILLIN, CONDITIONED response, GENE families, SEQUENCE analysis, GENE expression, SOYBEAN
Abstract

The fibrillin (FBN) gene family is widely distributed in all photosynthetic organisms. Members of this gene family are involved in plant growth and development and their response to various biotic and abiotic stress factors. In this study, 16 members of FBN were identified in Glycine max and characterized by using different bioinformatics tools. Phylogenetic analysis classified FBN genes into seven groups. The presence of stress-related cis-elements in the upstream region of GmFBN highlighted their role in tolerance against abiotic stresses. To further decipher the function, physiochemical properties, conserved motifs, chromosomal localization, subcellular localization, and cis-acting regulatory elements were also analyzed. Gene expression analysis based on FPKM values revealed that GmFBNs greatly enhanced soybean drought tolerance and controlled the expression of several genes involved in drought response, except for GmFBN-4, GmFBN-5, GmFBN-6, GmFBN-7 and GmFBN-9. For high throughput genotyping, an SNP-based CAPS marker was also developed for the GmFBN-15 gene. The CAPS marker differentiated soybean genotypes based on the presence of either the GmFBN-15-G or GmFBN-15-A alleles in the CDS region. Association analysis showed that G. max accessions containing the GmFBN-15-A allele at the respective locus showed higher thousand seed weight compared to accessions containing the GmFBN-15-G allele. This research has provided the basic information to further decipher the function of FBN in soybean. [ABSTRACT FROM AUTHOR]

Published
2023
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19. Characterization of salt tolerant wheat genotypes by using morpho-physiological, biochemical, and molecular analysis

Author

Irshad, Ahsan, primary, Ahmed, Rana Imtiaz, additional, Ur Rehman, Shoaib, additional, Sun, Guozhong, additional, Ahmad, Furqan, additional, Sher, Muhammad Ali, additional, Aslam, Muhammad Zahid, additional, Hassan, Mohamed M., additional, Qari, Sameer H., additional, Aziz, Muhammad Kashif, additional, and Khan, Zulqurnain, additional

Published
2022
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20. TaGSNE, a WRKY transcription factor, overcomes the trade-off between grain size and grain number in common wheat and is associated with root development

Author

Khan, Nadia, primary, Zhang, Yanfei, additional, Wang, Jingyi, additional, Li, Yuying, additional, Chen, Xin, additional, Yang, Lili, additional, Zhang, Jie, additional, Li, Chaonan, additional, Li, Long, additional, Ur Rehman, Shoaib, additional, Reynolds, Matthew P, additional, Zhang, Lichao, additional, Zhang, Xueyong, additional, Mao, Xinguo, additional, and Jing, Ruilian, additional

Published
2022
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22. Induction of Semi-Dwarf Trait to a Three Pistil Tall Mutant Through Breeding With Increased Grain Numbers in Wheat

Author

Irshad, Ahsan, primary, Guo, Huijun, additional, Ur Rehman, Shoaib, additional, Gu, Jiayu, additional, Ahmed, Rana Imtiaz, additional, Hussain, Manzoor, additional, Ammar, Ali, additional, Ali, Imtiaz, additional, Zafar, Akash, additional, Wang, Chaojie, additional, Zhou, Chunyun, additional, Qiu, Lin, additional, and Liu, Luxiang, additional

Published
2022
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24. Development and Exploitation of KASP Assays for Genes Underpinning Drought Tolerance Among Wheat Cultivars From Pakistan

Author

Ur Rehman, Shoaib, primary, Ali Sher, Muhammad, additional, Saddique, Muhammad Abu Bakar, additional, Ali, Zulfiqar, additional, Khan, Mahmood Alam, additional, Mao, Xinguo, additional, Irshad, Ahsan, additional, Sajjad, Muhammad, additional, Ikram, Rao Muhammad, additional, Naeem, Mahnoor, additional, and Jing, Ruilian, additional

Published
2021
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25. Incredible Role of Osmotic Adjustment in Grain Yield Sustainability under Water Scarcity Conditions in Wheat (Triticum aestivum L.)

Author

Mahmood, Tahir, primary, Abdullah, Muhammad, additional, Ahmar, Sunny, additional, Yasir, Muhammad, additional, Iqbal, Muhammad Shahid, additional, Yasir, Muhmmad, additional, Ur Rehman, Shoaib, additional, Ahmed, Sulaiman, additional, Rana, Rashid Mehmood, additional, Ghafoor, Abdul, additional, Nawaz Shah, Muhammad Kausar, additional, Du, Xiongming, additional, and Mora-Poblete, Freddy, additional

Published
2020
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29. Analysis of Black Hole attack on MANETs Using different MANET routing protocol

Author

Ur-Rehman, Shoaib and Ullah, Irshan

Subjects
Telekommunikation, Datavetenskap (datalogi), Computer Sciences, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, Telecommunications, MANET, Black Hole, Routing Protocols
Abstract

Wireless networks are gaining popularity day by day, as users want wireless connectivity irrespective of their geographic position. There is an increasing threat of malicious nodes attacks on the Mobile Ad-hoc Networks (MANET). Black hole attack is one of the security threat in which the traffic is redirected to such a node that actually does not exist in the network. It’s an analogy to the black hole in the universe in which things disappear. MANETs must have a secure way for transmission and communication which is quite challenging and vital issue. In order to provide secure communication and transmission, researcher worked specifically on the security issues in MANETs, and many secure routing protocols and security measures within the networks were proposed. The scope of this thesis is to study the effects of Black hole attack in MANET using both Proactive routing protocol i.e. Optimized Link State Routing (OLSR) and Reactive routing protocol Ad-Hoc on Demand Distance Vector (AODV). Comparative analysis of Black Hole attack for both protocols is taken into account. The impact of Black Hole attack on the performance of MANET is evaluated finding out which protocol is more vulnerable to the attack and how much is the impact of the attack on both protocols. The measurements were taken in the light of throughput, end-to-end delay and network load. Simulation is done in Optimized Network Engineering Tool (OPNET). Previously the works done on security issues in MANET were based on reactive routing protocol like Ad-Hoc on Demand Distance Vector (AODV). Different kinds of attacks were studied, and their effects were elaborated by stating how these attacks disrupt the performance of MANET.

Published
2010

30. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

Author

Hansen, Lars, Tawamie, Hasan, Murakami, Yoshiko, Mang, Yuan, ur Rehman, Shoaib, Buchert, Rebecca, Schaffer, Stefanie, Muhammad, Safia, Bak, Mads, Nöthen, Markus M, Bennett, Eric P, Maeda, Yusuke, Aigner, Michael, Reis, André, Kinoshita, Taroh, Tommerup, Niels, Baig, Shahid Mahmood, Abou Jamra, Rami, Hansen, Lars, Tawamie, Hasan, Murakami, Yoshiko, Mang, Yuan, ur Rehman, Shoaib, Buchert, Rebecca, Schaffer, Stefanie, Muhammad, Safia, Bak, Mads, Nöthen, Markus M, Bennett, Eric P, Maeda, Yusuke, Aigner, Michael, Reis, André, Kinoshita, Taroh, Tommerup, Niels, Baig, Shahid Mahmood, and Abou Jamra, Rami

Abstract

PGAP2 encodes a protein involved in remodeling the glycosylphosphatidylinositol (GPI) anchor in the Golgi apparatus. After synthesis in the endoplasmic reticulum (ER), GPI anchors are transferred to the proteins and are remodeled while transported through the Golgi to the cell membrane. Germline mutations in six genes (PIGA, PIGL, PIGM, PIGV, PIGN, and PIGO) in the ER-located part of the GPI-anchor-biosynthesis pathway have been reported, and all are associated with phenotypes extending from malformation and lethality to severe intellectual disability, epilepsy, minor dysmorphisms, and elevated alkaline phosphatase (ALP). We performed autozygosity mapping and ultra-deep sequencing followed by stringent filtering and identified two homozygous PGAP2 alterations, p.Tyr99Cys and p.Arg177Pro, in seven offspring with nonspecific autosomal-recessive intellectual disability from two consanguineous families. Rescue experiments with the altered proteins in PGAP2-deficient Chinese hamster ovary cell lines showed less expression of cell-surface GPI-anchored proteins DAF and CD59 than of the wild-type protein, substantiating the pathogenicity of the identified alterations. Furthermore, we observed a full rescue when we used strong promoters before the mutant cDNAs, suggesting a hypomorphic effect of the mutations. We report on alterations in the Golgi-located part of the GPI-anchor-biosynthesis pathway and extend the phenotypic spectrum of the GPI-anchor deficiencies to isolated intellectual disability with elevated ALP. GPI-anchor deficiencies can be interpreted within the concept of a disease family, and we propose that the severity of the phenotype is dependent on the location of the altered protein in the biosynthesis chain.

Published
2013

31. Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

Author

Hansen, Lars, primary, Tawamie, Hasan, additional, Murakami, Yoshiko, additional, Mang, Yuan, additional, ur Rehman, Shoaib, additional, Buchert, Rebecca, additional, Schaffer, Stefanie, additional, Muhammad, Safia, additional, Bak, Mads, additional, Nöthen, Markus M., additional, Bennett, Eric P., additional, Maeda, Yusuke, additional, Aigner, Michael, additional, Reis, André, additional, Kinoshita, Taroh, additional, Tommerup, Niels, additional, Baig, Shahid Mahmood, additional, and Abou Jamra, Rami, additional

Published
2013
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32. Cell membrane stability and chlorophyll content variation in wheat (Triticum aestivum) genotypes under conditions of heat and drought.

Author

Ur Rehman, Shoaib, Bilal, Muhammad, Rana, Rashid Mehmood, Tahir, Muhammad Naveed, Shah, Muhammad Kausar Nawaz, Ayalew, Habtamu, and Guijun Yan

Subjects
*VEGETATION & climate, *CROP improvement, WHEAT genetics
Abstract

Heat and drought are among the major obstacles confronting crop production under climate change. The present study was conducted to evaluate 50 diverse wheat genotypes for cell membrane stability (CMS) and chlorophyll content at seedling and anthesis stages under heat and drought stress conditions, to understand the effect of the two abiotic factors and to find promising genotypes for future breeding. Experiments were conducted in the glasshouse (seedling stage) and the field (anthesis stage). Analysis of variance showed significant variation (P≤0.05) for all of the traits at seedling and anthesis stages. High levels of broad-sense heritability and genetic advance at 5% selection intensity indicated the presence of a high genetic component of variation and potential for genetic improvement through selection among the existing genetic variation. CMS showed a significant positive correlation with 1000-grain weight (TGW) under heat and drought conditions at both seedling and anthesis stages. Chlorophyll a/b ratio at seedling stage exhibited a significant negative correlation (r = -0.39, P < 0.05) with TGW under heat stress. Total chlorophyll content was significantly (r = 0.42, P < 0.05) correlated with TGW under heat stress at anthesis. Genotypes ETAD248 and ETAD7 showed the highest CMS and TGW values, whereas their chlorophyll a/b values were lowest, at both seedling and anthesis stages under heat and drought stress conditions. Higher CMS and total chlorophyll content, and lower chlorophyll a/b, were found to be useful indicators to identify genotypes with high TGW under heat and drought stress conditions. This study indicated the possibility of using seedling resistance as an indicator for later stage response in breeding for heat and drought resistance. The resistant genotypes identified can be used as potential germplasm in breeding programs. [ABSTRACT FROM AUTHOR]

Published
2016
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33. Investigation of molecular heterogeneity of β-thalassemia disorder in District Charsadda of Pakistan.

Author

Shakeel, Muhammad, Arif, Muhammad, Ur Rehman, Shoaib, and Yaseen, Tabassum

Subjects
BETA-Thalassemia, POLYMERASE chain reaction, GENETIC mutation, BLOOD sampling, PRENATAL diagnosis
Abstract

Objective: Thalassemia is blood related disease which arises from the reduced level of hemoglobin in red blood cells (RBC), a protein responsible for carrying oxygen inside the body. Considering its widespread occurrence in developing countries like Pakistan, this study aims to investigate the common molecular anomalies of the beta thalassemia disease in district Charsadda, Khyber Pakhtunkhwa. Methods: This work was done at Abdul Wali Khan University (AWKU) Mardan, Khyber Pakhtunkhwa, Pakistan. The work was performed on the blood samples collected from the patients and their families with beta thalassemia major (n = 13 families) belonged to District Charsadda. The collected blood samples were analyzed for presence of six known mutations with the help of polymerase chain reaction technique i.e. amplification of refractory mutation system. Results: Our Study reports six known mutations (IVS-1-5, FSC 8/9, CD 41/42, IVS-1-1, CD 15 and FSC-5) accounting for about 90% of total beta thalassemia genes in this country. Among the reported mutations, IVS 1-5 was the most prevalent beta thalassemia gene in patients belonging to District Charsadda. Conclusion: The results and findings of the current study may help in accessing the frequency of these common mutations and in initiating pre-natal diagnosis programme in Pakistan. [ABSTRACT FROM AUTHOR]

Published
2016
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34. Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family.

Author

Nawaz, Sadia, Tariq, Muhammad, Azhar, Aysha, Rasool, Mahmood, Bakhtiar, Syeda Marriam, Ahmad, Ilyas, ur Rehman, Shoaib, Jameel, Muhammad, Khan, Tahir Naeem, Baig, Shehla Anjum, Klar, Joakim, Dahl, Niklas, and Baig, Shahid Mahmood

Subjects
KERATOSIS, SKIN inflammation, GENETIC polymorphisms, PAKISTANIS, MICROSATELLITE repeats, ERYTHEMA, PATIENTS, DISEASES
Abstract

Objective: To characterize the disease causing mutation in a large consanguineous Pakistani family with severe Mal de Meleda (MDM) or keratosis palmoplantaris transgrediens, a rare autosomal recessive skin disorder. Methodology: Single nucleotide polymorphism (SNPs) genotyping was performed using the GeneChip Mapping 250K array (Affymetrix). Homozygosity mapping and sorting of genomic regions were performed with dedicated software called AutoSNPa. Selected regions were further investigated by genotyping with microsatellite markers derived from known and novel polymorphic repeats. Two-point LOD score calculation was performed by using the MLINK of Fastlink computer package. All three coding exons of ARS (component B) gene were amplified by PCR and sequenced. Conclusion: Sequencing of all the coding exons of ARS (component B) gene in the affected individuals revealed a recurrent missense mutation in exon 3 at base pair 256 from Guanine to Alanine (256G>A) and as a result the amino acid Glycine is replaced by Arginine at position 86 (G86R). This finding will facilitate control of affected MDM births in the Pakistani families. [ABSTRACT FROM AUTHOR]

Published
2011

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