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1. Person-Centered Genetic Counselling

Author

Stefansdottir, Vigdis, Jonsson, Jon J., Patch, Christine, Mezzich, Juan E., editor, Appleyard, W. James, editor, Glare, Paul, editor, Snaedal, Jon, editor, and Wilson, C. Ruth, editor

Published
2023
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2. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

Author

Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Gisladottir, Svanborg, Simon, Mariella T., Arnthorsson, Asgeir O., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Ivarsdottir, Erna V., Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Barrick, Rebekah, Saemundsdottir, Jona, le Roux, Louise, Oskarsson, Gudjon R., Asmundsson, Jurate, Steffensen, Thora, Gudmundsson, Kjartan R., Ludvigsson, Petur, Jonsson, Jon J., Masson, Gisli, Jonsdottir, Ingileif, Holm, Hilma, Jonasson, Jon G., Magnusson, Olafur Th., Thorarensen, Olafur, Abdenur, Jose, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Bjornsson, Hans T., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2022
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4. Genetic subtypes and outcome of patients aged 1 to 45 years old with acute lymphoblastic leukemia in the NOPHO ALL2008 trial

Author

Norén-Nyström, Ulrika, Andersen, Mette K., Barbany, Gisela, Dirse, Vaidas, Eilert-Olsen, Martine, Engvall, Marie, Harila-Saari, Arja, Heyman, Mats, Hovland, Randi, Haikio, Satu, Jonsson, Jon J., Karhu, Ritva, Kjeldsen, Eigil, Norberg, Anna, Preiss, Birgitte S., Pulkkinen, Kati, Quist-Paulsen, Petter, Rasanen, Hannele, Schmiegelow, Kjeld, Seitsonen, Anne, Sjogren, Helene, Tammur, Pille, Johansson, Bertil, Norén-Nyström, Ulrika, Andersen, Mette K., Barbany, Gisela, Dirse, Vaidas, Eilert-Olsen, Martine, Engvall, Marie, Harila-Saari, Arja, Heyman, Mats, Hovland, Randi, Haikio, Satu, Jonsson, Jon J., Karhu, Ritva, Kjeldsen, Eigil, Norberg, Anna, Preiss, Birgitte S., Pulkkinen, Kati, Quist-Paulsen, Petter, Rasanen, Hannele, Schmiegelow, Kjeld, Seitsonen, Anne, Sjogren, Helene, Tammur, Pille, and Johansson, Bertil

Published
2023
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14. The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI system

Author

Sigurdsson Martin I, Smith Albert V, Bjornsson Hans T, and Jonsson Jon J

Subjects
piRNA, PIWI, LINE-1, Transposable element, Germline, Methylation, Epigenetics, Genetics, QH426-470
Abstract

Abstract Background A defense system against transposon activity in the human germline based on PIWI proteins and piRNA has recently been discovered. It represses the activity of LINE-1 elements via DNA methylation by a largely unknown mechanism. Based on the dispersed distribution of clusters of piRNA genes in a strand-specific manner on all human chromosomes, we hypothesized that this system might work preferentially on local and proximal sequences. We tested this hypothesis with a methylation-associated SNP (mSNP) marker which is based on the density of C-T transitions in CpG dinucleotides as a surrogate marker for germline methylation. Results We found significantly higher density of mSNPs flanking piRNA clusters in the human genome for flank sizes of 1-16 Mb. A dose-response relationship between number of piRNA genes and mSNP density was found for up to 16 Mb of flanking sequences. The chromosomal density of hypermethylated LINE-1 elements had a significant positive correlation with the chromosomal density of piRNA genes (r = 0.41, P = 0.05). Genome windows of 1-16 Mb containing piRNA clusters had significantly more hypermethylated LINE-1 elements than windows not containing piRNA clusters. Finally, the minimum distance to the next piRNA cluster was significantly shorter for hypermethylated LINE-1 compared to normally methylated elements (14.4 Mb vs 16.1 Mb). Conclusions Our observations support our hypothesis that the piRNA-PIWI system preferentially methylates sequences in close proximity to the piRNA clusters and perhaps physically adjacent sequences on other chromosomes. Furthermore they suggest that this proximity effect extends up to 16 Mb. This could be due to an unknown localization signal, transcription of piRNA genes near the nuclear membrane or the presence of an unknown RNA molecule that spreads across the chromosome and targets the methylation directed by the piRNA-PIWI complex. Our data suggest a region specific molecular mechanism which can be sought experimentally.

Published
2012
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19. Web-based return of BRCA2research results: one-year genetic counselling experience in Iceland

Author

Stefansdottir, Vigdis, Thorolfsdottir, Eirny, Hognason, Hakon B., Patch, Christine, van El, Carla, Hentze, Sabine, Cordier, Christophe, Mendes, Álvaro, and Jonsson, Jon J.

Abstract

There is an increased pressure to return results from research studies. In Iceland, deCODE Genetics has emphasised the importance of returning results to research participants, particularly the founder pathogenic BRCA2variant; NM_000059.3:c.771_775del. To do so, they opened the website www.arfgerd.is. Individuals who received positive results via the website were offered genetic counselling (GC) at Landspitali in Reykjavik. At the end of May 2019, over 46.000 (19% of adults of Icelandic origin) had registered at the website and 352 (0.77%) received text message informing them about their positive results. Of those, 195 (55%) contacted the GC unit. Additionally, 129 relatives asked for GC and confirmatory testing, a total of 324 individuals. Various information such as gender and age, prior knowledge of the variant and perceived emotional impact, was collected. Of the BRCA2positive individuals from the website, 74 (38%) had prior knowledge of the pathogenic variant (PV) in the family. The majority initially stated worries, anxiety or other negative emotion but later in the process many communicated gratitude for the knowledge gained. Males represented 41% of counsellees as opposed to less than 30% in the regular hereditary breast and ovarian (HBOC) clinic. It appears that counselling in clinical settings was more reassuring for worried counsellees. In this article, we describe one-year experience of the GC service to those who received positive results via the website. This experience offers a unique opportunity to study the public response of a successful method of the return of genetic results from research.

Published
2020
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21. Large-scale whole-genome sequencing of the Icelandic population

Author

Gudbjartsson, Daniel F, primary, Helgason, Hannes, additional, Gudjonsson, Sigurjon A, additional, Zink, Florian, additional, Oddson, Asmundur, additional, Gylfason, Arnaldur, additional, Besenbacher, Soren, additional, Magnusson, Gisli, additional, Halldorsson, Bjarni V, additional, Hjartarson, Eirikur, additional, Sigurdsson, Gunnar Th, additional, Stacey, Simon N, additional, Frigge, Michael L, additional, Holm, Hilma, additional, Saemundsdottir, Jona, additional, Helgadottir, Hafdis Th, additional, Johannsdottir, Hrefna, additional, Sigfusson, Gunnlaugur, additional, Thorgeirsson, Gudmundur, additional, Sverrisson, Jon Th, additional, Gretarsdottir, Solveig, additional, Walters, G Bragi, additional, Rafnar, Thorunn, additional, Thjodleifsson, Bjarni, additional, Bjornsson, Einar S, additional, Olafsson, Sigurdur, additional, Thorarinsdottir, Hildur, additional, Steingrimsdottir, Thora, additional, Gudmundsdottir, Thora S, additional, Theodors, Asgeir, additional, Jonasson, Jon G, additional, Sigurdsson, Asgeir, additional, Bjornsdottir, Gyda, additional, Jonsson, Jon J, additional, Thorarensen, Olafur, additional, Ludvigsson, Petur, additional, Gudbjartsson, Hakon, additional, Eyjolfsson, Gudmundur I, additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Arnar, David O, additional, Magnusson, Olafur Th, additional, Kong, Augustine, additional, Masson, Gisli, additional, Thorsteinsdottir, Unnur, additional, Helgason, Agnar, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2015
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24. Enhanced interpretation of newborn screening results without analyte cutoff values

Author

UCL - (SLuc) Service de biochimie médicale, Marquardt, Gregg, Currier, Robert, McHugh, David M S, Gavrilov, Dimitar, Magera, Mark J, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H, Tortorelli, Silvia, Turgeon, Coleman T, Lorey, Fred, Wilcken, Bridget, Wiley, Veronica, Greed, Lawrence C, Lewis, Barry, Boemer, François, Schoos, Roland, Marie, Sandrine, Vincent, Marie-Françoise, Sica, Yuri Cleverthon, Domingos, Mouseline Torquado, Al-Thihli, Khalid, Sinclair, Graham, Al-Dirbashi, Osama Y, Chakraborty, Pranesh, Dymerski, Mark, Porter, Cory, Manning, Adrienne, Seashore, Margretta R, Quesada, Jonessy, Reuben, Alejandra, Chrastina, Petr, Hornik, Petr, Atef Mandour, Iman, Atty Sharaf, Sahar Abdel, Bodamer, Olaf, Dy, Bonifacio, Torres, Jasmin, Zori, Roberto, Cheillan, David, Vianey-Saban, Christine, Ludvigson, David, Stembridge, Adrya, Bonham, Jim, Downing, Melanie, Dotsikas, Yannis, Loukas, Yannis L, Papakonstantinou, Vagelis, Zacharioudakis, Georgios S A, Baráth, Ákos, Karg, Eszter, Franzson, Leifur, Jonsson, Jon J, Breen, Nancy N, Lesko, Barbara G, Berberich, Stanton L, Turner, Kimberley, Ruoppolo, Margherita, Scolamiero, Emanuela, Antonozzi, Italo, Carducci, Claudia, Caruso, Ubaldo, Cassanello, Michela, la Marca, Giancarlo, Pasquini, Elisabetta, Di Gangi, Iole Maria, Giordano, Giuseppe, Camilot, Marta, Teofoli, Francesca, Manos, Shawn M, Peterson, Colleen K, Mayfield Gibson, Stephanie K, Sevier, Darrin W, Lee, Soo-Youn, Park, Hyung-Doo, Khneisser, Issam, Browning, Phaidra, Gulamali-Majid, Fizza, Watson, Michael S, Eaton, Roger B, Sahai, Inderneel, Ruiz, Consuelo, Torres, Rosario, Seeterlin, Mary A, Stanley, Eleanor L, Hietala, Amy, McCann, Mark, Campbell, Carlene, Hopkins, Patrick V, de Sain-Van der Velden, Monique G, Elvers, Bert, Morrissey, Mark A, Sunny, Sherlykutty, Knoll, Detlef, Webster, Dianne, Frazier, Dianne M, McClure, Julie D, Sesser, David E, Willis, Sharon A, Rocha, Hugo, Vilarinho, Laura, John, Catharine, Lim, James, Caldwell, S Graham, Tomashitis, Kathy, Castiñeiras Ramos, Daisy E, Cocho de Juan, Jose Angel, Rueda Fernández, Inmaculada, Yahyaoui Macías, Raquel, Egea-Mellado, José María, González-Gallego, Inmaculada, Delgado Pecellin, Carmen, García-Valdecasas Bermejo, Maria Sierra, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Childs, Thomas, McKeever, Christine D, Tanyalcin, Tijen, Abdulrahman, Mahera, Queijo, Cecilia, Lemes, Aída, Davis, Tim, Hoffman, William, Baker, Mei, Hoffman, Gary L, UCL - (SLuc) Service de biochimie médicale, Marquardt, Gregg, Currier, Robert, McHugh, David M S, Gavrilov, Dimitar, Magera, Mark J, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H, Tortorelli, Silvia, Turgeon, Coleman T, Lorey, Fred, Wilcken, Bridget, Wiley, Veronica, Greed, Lawrence C, Lewis, Barry, Boemer, François, Schoos, Roland, Marie, Sandrine, Vincent, Marie-Françoise, Sica, Yuri Cleverthon, Domingos, Mouseline Torquado, Al-Thihli, Khalid, Sinclair, Graham, Al-Dirbashi, Osama Y, Chakraborty, Pranesh, Dymerski, Mark, Porter, Cory, Manning, Adrienne, Seashore, Margretta R, Quesada, Jonessy, Reuben, Alejandra, Chrastina, Petr, Hornik, Petr, Atef Mandour, Iman, Atty Sharaf, Sahar Abdel, Bodamer, Olaf, Dy, Bonifacio, Torres, Jasmin, Zori, Roberto, Cheillan, David, Vianey-Saban, Christine, Ludvigson, David, Stembridge, Adrya, Bonham, Jim, Downing, Melanie, Dotsikas, Yannis, Loukas, Yannis L, Papakonstantinou, Vagelis, Zacharioudakis, Georgios S A, Baráth, Ákos, Karg, Eszter, Franzson, Leifur, Jonsson, Jon J, Breen, Nancy N, Lesko, Barbara G, Berberich, Stanton L, Turner, Kimberley, Ruoppolo, Margherita, Scolamiero, Emanuela, Antonozzi, Italo, Carducci, Claudia, Caruso, Ubaldo, Cassanello, Michela, la Marca, Giancarlo, Pasquini, Elisabetta, Di Gangi, Iole Maria, Giordano, Giuseppe, Camilot, Marta, Teofoli, Francesca, Manos, Shawn M, Peterson, Colleen K, Mayfield Gibson, Stephanie K, Sevier, Darrin W, Lee, Soo-Youn, Park, Hyung-Doo, Khneisser, Issam, Browning, Phaidra, Gulamali-Majid, Fizza, Watson, Michael S, Eaton, Roger B, Sahai, Inderneel, Ruiz, Consuelo, Torres, Rosario, Seeterlin, Mary A, Stanley, Eleanor L, Hietala, Amy, McCann, Mark, Campbell, Carlene, Hopkins, Patrick V, de Sain-Van der Velden, Monique G, Elvers, Bert, Morrissey, Mark A, Sunny, Sherlykutty, Knoll, Detlef, Webster, Dianne, Frazier, Dianne M, McClure, Julie D, Sesser, David E, Willis, Sharon A, Rocha, Hugo, Vilarinho, Laura, John, Catharine, Lim, James, Caldwell, S Graham, Tomashitis, Kathy, Castiñeiras Ramos, Daisy E, Cocho de Juan, Jose Angel, Rueda Fernández, Inmaculada, Yahyaoui Macías, Raquel, Egea-Mellado, José María, González-Gallego, Inmaculada, Delgado Pecellin, Carmen, García-Valdecasas Bermejo, Maria Sierra, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Childs, Thomas, McKeever, Christine D, Tanyalcin, Tijen, Abdulrahman, Mahera, Queijo, Cecilia, Lemes, Aída, Davis, Tim, Hoffman, William, Baker, Mei, and Hoffman, Gary L

Abstract

Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. Methods: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors. Results: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events. Conclusion: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%. © 2012 American College of Medical Genetics and Genomics.

Published
2012

25. A compendium of inborn errors of metabolism mapped onto the human metabolic network

Author

Sahoo, Swagatika, Franzson, Jonsson, Jon J, Thiele, Ines, Sahoo, Swagatika, Franzson, Jonsson, Jon J, and Thiele, Ines

Abstract

Inborn errors of metabolism (IEMs) are hereditary metabolic defects, which are encountered in almost all major metabolic pathways occurring in man. Many IEMs are screened for in neonates through metabolomic analysis of dried blood spot samples. To enable the mapping of these metabolomic data onto the published human metabolic reconstruction, we added missing reactions and pathways involved in acylcarnitine (AC) and fatty acid oxidation (FAO) metabolism. Using literary data, we reconstructed an AC/FAO module consisting of 352 reactions and 139 metabolites. When this module was combined with the human metabolic reconstruction, the synthesis of 39 acylcarnitines and 22 amino acids, which are routinely measured, was captured and 235 distinct IEMs could be mapped. We collected phenotypic and clinical features for each IEM enabling comprehensive classification. We found that carbohydrate, amino acid, and lipid metabolism were most affected by the IEMs, while the brain was the most commonly affected organ. Furthermore, we analyzed the IEMs in the context of metabolic network topology to gain insight into common features between metabolically connected IEMs. While many known examples were identified, we discovered some surprising IEM pairs that shared reactions as well as clinical features but not necessarily causal genes. Moreover, we could also re-confirm that acetyl-CoA acts as a central metabolite. This network based analysis leads to further insight of hot spots in human metabolism with respect to IEMs. The presented comprehensive knowledge base of IEMs will provide a valuable tool in studying metabolic changes involved in inherited metabolic diseases.

Published
2012

26. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

McHugh David M. S., Cameron Cynthia A., Abdenur Jose E., Abdulrahman Mahera, Adair Ona, Al Nuaimi Shahira Ahmed, Ahlman Henrik, Allen Jennifer J., Antonozzi Italo, Archer Shaina, Au Sylvia, Auray-Blais Christiane, Baker Mei, Bamforth Fiona, Beckmann Kinga, Pino Gessi Bentz, Berberich Stanton L., Binard Robert, Boemer Francois, Bonham Jim, Breen Nancy N., Bryant Sandra C., Caggana Michele, Caldwell S. Graham, Camilot Marta, Campbell Carlene, Carducci Claudia, Cariappa Rohit, Carlisle Clover, Caruso Ubaldo, Cassanello Michela, Miren Castilla Ane, Castineiras Ramos Daisy E., Chakraborty Pranesh, Chandrasekar Ram, Ramos Alfredo Chardon, Cheillan David, Chien Yin-Hsiu, Childs Thomas A., Chrastina Petr, Sica Yuri Cleverthon, Cocho de Juan Jose Angel, Elena Colandre Maria, Cornejo Espinoza Veronica, Corso Gaetano, Currier Robert, Cyr Denis, Czuczy Noemi, D'Apolito Oceania, Davis Tim, de Sain-Van der Velden Monique G., Delgado Pecellin Carmen, Di Gangi Iole Maria, Di Stefano Cristina Maria, Dotsikas Yannis, Downing Melanie, Downs Stephen M., Dy Bonifacio, Dymerski Mark, Rueda Inmaculada, Elvers Bert, Eaton Roger, Eckerd Barbara M., El Mougy Fatma, Eroh Sarah, Espada Mercedes, Evans Catherine, Fawbush Sandy, Fijolek Kristel F., Fisher Lawrence, Franzson Leifur, Frazier Dianne M., Garcia Luciana R. C., Garcia-Valdecasas Bermejo Maria Sierra, Gavrilov Dimitar, Gerace Rosemarie, Giordano Giuseppe, Irazabal Yolanda Gonzalez, Greed Lawrence C., Grier Robert, Grycki Elyse, Gu Xuefan, Gulamali-Majid Fizza, Hagar Arthur F., Han Lianshu, Hannon W. Harry, Haslip Christa, Hassan Fayza Abdelhamid, He Miao, Hietala Amy, Himstedt Leslie, Hoffman Gary L., Hoffman William, Hoggatt Philis, Hopkins Patrick V., Hougaard David M., Hughes Kerie, Hunt Patricia R., Hwu Wuh-Liang, Hynes June, Ibarra-Gonzalez Isabel, Ingham Cindy A., Ivanova Maria, Jacox Ward B., John Catharine, Johnson John P., Jonsson Jon J., Karg Eszter, Kasper David, Klopper Brenda, Katakouzinos Dimitris, Khneisser Issam, Knoll Detlef, Kobayashi Hirinori, Koneski Ronald, Kozich Viktor, Kouapei Rasoul, Kohlmueller Dirk, Kremensky Ivo, la Marca Giancarlo, Lavochkin Marcia, Lee Soo-Youn, Lehotay Denis C., Lemes Aida, Lepage Joyce, Lesko Barbara, Lewis Barry, Lim Carol, Linard Sharon, Lindner Martin, Lloyd-Puryear Michele A., Lorey Fred, Loukas Yannis L., Luedtke Julie, Maffitt Neil, Magee J. Fergall, Manning Adrienne, Manos Shawn, Marie Sandrine, Hadachi Sonia Marchezi, Marquardt Gregg, Martin Stephen J., Matern Dietrich, Gibson Stephanie K. Mayfield, Mayne Philip, McCallister Tonya D., McCann Mark, McClure Julie, McGill James J., McKeever Christine D., McNeilly Barbara, Morrissey Mark A., Moutsatsou Paraskevi, Mulcahy Eleanor A., Nikoloudis Dimitris, Norgaard-Pedersen Bent, Oglesbee Devin, Oltarzewski Mariusz, Ombrone Daniela, Ojodu Jelili, Papakonstantinou Vagelis, Reoyo Sherly Pardo, Park Hyung-Doo, Pasquali Marzia, Pasquini Elisabetta, Patel Pallavi, Pass Kenneth A., Peterson Colleen, Pettersen Rolf D., Pitt James J., Poh Sherry, Pollak Arnold, Porter Cory, Poston Philip A., Price Ricky W., Queijo Cecilia, Quesada Jonessy, Randell Edward, Ranieri Enzo, Raymond Kimiyo, Reddic John E., Reuben Alejandra, Ricciardi Charla, Rinaldo Piero, Rivera Jeff D., Roberts Alicia, Rocha Hugo, Roche Geraldine, Greenberg Cheryl Rochman, Egea Mellado Jose Maria, Jess Juan-Fita Maria, Ruiz Consuelo, Ruoppolo Margherita, Rutledge S. Lane, Ryu Euijung, Saban Christine, Sahai Inderneel, Salazar Garcia-Blanco Maria Isabel, Santiago-Borrero Pedro, Schenone Andrea, Schoos Roland, Schweitzer Barb, Scott Patricia, Seashore Margretta R., Seeterlin Mary A., Sesser David E., Sevier Darrin W., Shone Scott M., Sinclair Graham, Skrinska Victor A., Stanley Eleanor L., Strovel Erin T., Jones April L. Studinski, Sunny Sherlykutty, Takats Zoltan, Tanyalcin Tijen, Teofoli Francesca, Thompson J. Robert, Tomashitis Kathy, Domingos Mouseline Torquado, Torres Jasmin, Torres Rosario, Tortorelli Silvia, Turi Sandor, Turner Kimberley, Tzanakos Nick, Valiente Alf G., Vallance Hillary, Vela-Amieva Marcela, Vilarinho Laura, von Doebeln Ulrika, Vincent Marie-Francoise, Vorster B. Chris, Watson Michael S., Webster Dianne, Weiss Sheila, Wilcken Bridget, Wiley Veronica, Williams Sharon K., Willis Sharon A., Woontner Michael, Wright Katherine, Yahyaoui Raquel, Yamaguchi, Seiji, Yssel Melissa, Zakowicz Wendy M., McHugh David M. S., Cameron Cynthia A., Abdenur Jose E., Abdulrahman Mahera, Adair Ona, Al Nuaimi Shahira Ahmed, Ahlman Henrik, Allen Jennifer J., Antonozzi Italo, Archer Shaina, Au Sylvia, Auray-Blais Christiane, Baker Mei, Bamforth Fiona, Beckmann Kinga, Pino Gessi Bentz, Berberich Stanton L., Binard Robert, Boemer Francois, Bonham Jim, Breen Nancy N., Bryant Sandra C., Caggana Michele, Caldwell S. Graham, Camilot Marta, Campbell Carlene, Carducci Claudia, Cariappa Rohit, Carlisle Clover, Caruso Ubaldo, Cassanello Michela, Miren Castilla Ane, Castineiras Ramos Daisy E., Chakraborty Pranesh, Chandrasekar Ram, Ramos Alfredo Chardon, Cheillan David, Chien Yin-Hsiu, Childs Thomas A., Chrastina Petr, Sica Yuri Cleverthon, Cocho de Juan Jose Angel, Elena Colandre Maria, Cornejo Espinoza Veronica, Corso Gaetano, Currier Robert, Cyr Denis, Czuczy Noemi, D'Apolito Oceania, Davis Tim, de Sain-Van der Velden Monique G., Delgado Pecellin Carmen, Di Gangi Iole Maria, Di Stefano Cristina Maria, Dotsikas Yannis, Downing Melanie, Downs Stephen M., Dy Bonifacio, Dymerski Mark, Rueda Inmaculada, Elvers Bert, Eaton Roger, Eckerd Barbara M., El Mougy Fatma, Eroh Sarah, Espada Mercedes, Evans Catherine, Fawbush Sandy, Fijolek Kristel F., Fisher Lawrence, Franzson Leifur, Frazier Dianne M., Garcia Luciana R. C., Garcia-Valdecasas Bermejo Maria Sierra, Gavrilov Dimitar, Gerace Rosemarie, Giordano Giuseppe, Irazabal Yolanda Gonzalez, Greed Lawrence C., Grier Robert, Grycki Elyse, Gu Xuefan, Gulamali-Majid Fizza, Hagar Arthur F., Han Lianshu, Hannon W. Harry, Haslip Christa, Hassan Fayza Abdelhamid, He Miao, Hietala Amy, Himstedt Leslie, Hoffman Gary L., Hoffman William, Hoggatt Philis, Hopkins Patrick V., Hougaard David M., Hughes Kerie, Hunt Patricia R., Hwu Wuh-Liang, Hynes June, Ibarra-Gonzalez Isabel, Ingham Cindy A., Ivanova Maria, Jacox Ward B., John Catharine, Johnson John P., Jonsson Jon J., Karg Eszter, Kasper David, Klopper Brenda, Katakouzinos Dimitris, Khneisser Issam, Knoll Detlef, Kobayashi Hirinori, Koneski Ronald, Kozich Viktor, Kouapei Rasoul, Kohlmueller Dirk, Kremensky Ivo, la Marca Giancarlo, Lavochkin Marcia, Lee Soo-Youn, Lehotay Denis C., Lemes Aida, Lepage Joyce, Lesko Barbara, Lewis Barry, Lim Carol, Linard Sharon, Lindner Martin, Lloyd-Puryear Michele A., Lorey Fred, Loukas Yannis L., Luedtke Julie, Maffitt Neil, Magee J. Fergall, Manning Adrienne, Manos Shawn, Marie Sandrine, Hadachi Sonia Marchezi, Marquardt Gregg, Martin Stephen J., Matern Dietrich, Gibson Stephanie K. Mayfield, Mayne Philip, McCallister Tonya D., McCann Mark, McClure Julie, McGill James J., McKeever Christine D., McNeilly Barbara, Morrissey Mark A., Moutsatsou Paraskevi, Mulcahy Eleanor A., Nikoloudis Dimitris, Norgaard-Pedersen Bent, Oglesbee Devin, Oltarzewski Mariusz, Ombrone Daniela, Ojodu Jelili, Papakonstantinou Vagelis, Reoyo Sherly Pardo, Park Hyung-Doo, Pasquali Marzia, Pasquini Elisabetta, Patel Pallavi, Pass Kenneth A., Peterson Colleen, Pettersen Rolf D., Pitt James J., Poh Sherry, Pollak Arnold, Porter Cory, Poston Philip A., Price Ricky W., Queijo Cecilia, Quesada Jonessy, Randell Edward, Ranieri Enzo, Raymond Kimiyo, Reddic John E., Reuben Alejandra, Ricciardi Charla, Rinaldo Piero, Rivera Jeff D., Roberts Alicia, Rocha Hugo, Roche Geraldine, Greenberg Cheryl Rochman, Egea Mellado Jose Maria, Jess Juan-Fita Maria, Ruiz Consuelo, Ruoppolo Margherita, Rutledge S. Lane, Ryu Euijung, Saban Christine, Sahai Inderneel, Salazar Garcia-Blanco Maria Isabel, Santiago-Borrero Pedro, Schenone Andrea, Schoos Roland, Schweitzer Barb, Scott Patricia, Seashore Margretta R., Seeterlin Mary A., Sesser David E., Sevier Darrin W., Shone Scott M., Sinclair Graham, Skrinska Victor A., Stanley Eleanor L., Strovel Erin T., Jones April L. Studinski, Sunny Sherlykutty, Takats Zoltan, Tanyalcin Tijen, Teofoli Francesca, Thompson J. Robert, Tomashitis Kathy, Domingos Mouseline Torquado, Torres Jasmin, Torres Rosario, Tortorelli Silvia, Turi Sandor, Turner Kimberley, Tzanakos Nick, Valiente Alf G., Vallance Hillary, Vela-Amieva Marcela, Vilarinho Laura, von Doebeln Ulrika, Vincent Marie-Francoise, Vorster B. Chris, Watson Michael S., Webster Dianne, Weiss Sheila, Wilcken Bridget, Wiley Veronica, Williams Sharon K., Willis Sharon A., Woontner Michael, Wright Katherine, Yahyaoui Raquel, Yamaguchi, Seiji, Yssel Melissa, and Zakowicz Wendy M.

Published
2011

28. A community-driven global reconstruction of human metabolism

Author

Thiele, Ines, primary, Swainston, Neil, additional, Fleming, Ronan M T, additional, Hoppe, Andreas, additional, Sahoo, Swagatika, additional, Aurich, Maike K, additional, Haraldsdottir, Hulda, additional, Mo, Monica L, additional, Rolfsson, Ottar, additional, Stobbe, Miranda D, additional, Thorleifsson, Stefan G, additional, Agren, Rasmus, additional, Bölling, Christian, additional, Bordel, Sergio, additional, Chavali, Arvind K, additional, Dobson, Paul, additional, Dunn, Warwick B, additional, Endler, Lukas, additional, Hala, David, additional, Hucka, Michael, additional, Hull, Duncan, additional, Jameson, Daniel, additional, Jamshidi, Neema, additional, Jonsson, Jon J, additional, Juty, Nick, additional, Keating, Sarah, additional, Nookaew, Intawat, additional, Le Novère, Nicolas, additional, Malys, Naglis, additional, Mazein, Alexander, additional, Papin, Jason A, additional, Price, Nathan D, additional, Selkov, Evgeni, additional, Sigurdsson, Martin I, additional, Simeonidis, Evangelos, additional, Sonnenschein, Nikolaus, additional, Smallbone, Kieran, additional, Sorokin, Anatoly, additional, van Beek, Johannes H G M, additional, Weichart, Dieter, additional, Goryanin, Igor, additional, Nielsen, Jens, additional, Westerhoff, Hans V, additional, Kell, Douglas B, additional, Mendes, Pedro, additional, and Palsson, Bernhard Ø, additional

Published
2013
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30. Enhanced interpretation of newborn screening results without analyte cutoff values

Author

Marquardt, Gregg, primary, Currier, Robert, additional, McHugh, David M.S., additional, Gavrilov, Dimitar, additional, Magera, Mark J., additional, Matern, Dietrich, additional, Oglesbee, Devin, additional, Raymond, Kimiyo, additional, Rinaldo, Piero, additional, Smith, Emily H., additional, Tortorelli, Silvia, additional, Turgeon, Coleman T., additional, Lorey, Fred, additional, Wilcken, Bridget, additional, Wiley, Veronica, additional, Greed, Lawrence C., additional, Lewis, Barry, additional, Boemer, François, additional, Schoos, Roland, additional, Marie, Sandrine, additional, Vincent, Marie-Françoise, additional, Sica, Yuri Cleverthon, additional, Domingos, Mouseline Torquado, additional, Al-Thihli, Khalid, additional, Sinclair, Graham, additional, Al-Dirbashi, Osama Y., additional, Chakraborty, Pranesh, additional, Dymerski, Mark, additional, Porter, Cory, additional, Manning, Adrienne, additional, Seashore, Margretta R., additional, Quesada, Jonessy, additional, Reuben, Alejandra, additional, Chrastina, Petr, additional, Hornik, Petr, additional, Mandour, Iman Atef, additional, Sharaf, Sahar Abdel Atty, additional, Bodamer, Olaf, additional, Dy, Bonifacio, additional, Torres, Jasmin, additional, Zori, Roberto, additional, Cheillan, David, additional, Vianey-Saban, Christine, additional, Ludvigson, David, additional, Stembridge, Adrya, additional, Bonham, Jim, additional, Downing, Melanie, additional, Dotsikas, Yannis, additional, Loukas, Yannis L., additional, Papakonstantinou, Vagelis, additional, Zacharioudakis, Georgios S.A., additional, Baráth, Ákos, additional, Karg, Eszter, additional, Franzson, Leifur, additional, Jonsson, Jon J., additional, Breen, Nancy N., additional, Lesko, Barbara G., additional, Berberich, Stanton L., additional, Turner, Kimberley, additional, Ruoppolo, Margherita, additional, Scolamiero, Emanuela, additional, Antonozzi, Italo, additional, Carducci, Claudia, additional, Caruso, Ubaldo, additional, Cassanello, Michela, additional, Marca, Giancarlo la, additional, Pasquini, Elisabetta, additional, Di Gangi, Iole Maria, additional, Giordano, Giuseppe, additional, Camilot, Marta, additional, Teofoli, Francesca, additional, Manos, Shawn M., additional, Peterson, Colleen K., additional, Mayfield Gibson, Stephanie K., additional, Sevier, Darrin W., additional, Lee, Soo-Youn, additional, Park, Hyung-Doo, additional, Khneisser, Issam, additional, Browning, Phaidra, additional, Gulamali-Majid, Fizza, additional, Watson, Michael S., additional, Eaton, Roger B., additional, Sahai, Inderneel, additional, Ruiz, Consuelo, additional, Torres, Rosario, additional, Seeterlin, Mary A., additional, Stanley, Eleanor L., additional, Hietala, Amy, additional, McCann, Mark, additional, Campbell, Carlene, additional, Hopkins, Patrick V., additional, de Sain–Van der Velden, Monique G., additional, Elvers, Bert, additional, Morrissey, Mark A., additional, Sunny, Sherlykutty, additional, Knoll, Detlef, additional, Webster, Dianne, additional, Frazier, Dianne M., additional, McClure, Julie D., additional, Sesser, David E., additional, Willis, Sharon A., additional, Rocha, Hugo, additional, Vilarinho, Laura, additional, John, Catharine, additional, Lim, James, additional, Caldwell, S. Graham, additional, Tomashitis, Kathy, additional, Castiñeiras Ramos, Daisy E., additional, de Juan, Jose Angel Cocho, additional, Fernández, Inmaculada Rueda, additional, Macías, Raquel Yahyaoui, additional, Egea-Mellado, José María, additional, González-Gallego, Inmaculada, additional, Pecellin, Carmen Delgado, additional, Bermejo, Maria Sierra García-Valdecasas, additional, Chien, Yin-Hsiu, additional, Hwu, Wuh-Liang, additional, Childs, Thomas, additional, McKeever, Christine D., additional, Tanyalcin, Tijen, additional, Abdulrahman, Mahera, additional, Queijo, Cecilia, additional, Lemes, Aída, additional, Davis, Tim, additional, Hoffman, William, additional, Baker, Mei, additional, and Hoffman, Gary L., additional

Published
2012
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38. FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation

Author

Piccini, Monica, primary, Vitelli, Francesca, additional, Bruttini, Mirella, additional, Pober, Barbara R., additional, Jonsson, Jon J., additional, Villanova, Marcello, additional, Zollo, Massimo, additional, Borsani, Giuseppe, additional, Ballabio, Andrea, additional, and Renieri, Alessandra, additional

Published
1998
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45. From genotype to phenotype.

Author

Hansdottir, A.G., Hallsson, J.H., Arnheiter, H., Lamoreoux, M.L., Copeland, N.G., Jenkins, N.A., Steingrimsson, E., Schepsky, A., Gunnarsson, G.J., A. M&ouml, ller, Eysteinsson, T., Gudmundsson, Bjarki, Bjarnadottir, Helga, Kristjansdottir, Steinunn, Jonsson, Jon J., Andresdottir, V., Bor, M. Vakur, Sørensen, Boe Sandahl, and Thulesen, Jesper

Subjects
GENETIC research, ELECTRORETINOGRAPHY, RETINA, MAEDI-visna virus
Abstract

Presents various studies on genetics. Observance of interallic complementation at the mouse microphthalmia locus; Details on electroretinographic and histologic assessment of retinal function in an allelic series of microphthalmia mutant mice; Construction of gene transfer vector based on maedi-visna virus.

Published
2002
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46. Transposon-derived repeats in the human genome and 5-methylcytosine-associated mutations in adjacent genes

Author

Bjornsson, Hans T., Ellingsen, Lotta M., and Jonsson, Jon J.

Subjects
*GENES, *HEREDITY, *MOBILE genetic elements, *GENOMES, *GENETICS, *MESSENGER RNA, *HUMAN chromosomes, *HUMAN genome, *NUCLEIC acids
Abstract

Abstract: Transposon-derived repeats (TDR) represent approximately 50% of the human genome. A transposon suppression system has been proposed to explain why transposon-derived repeats (TDR) seldom cause mutations in humans. If this system is based on DNA methylation, a correlation might exist between amount of TDR adjacent to genes and frequency of coding sequence mutations due to m5C deaminations. To test this hypothesis we selected 385 genes based on availability of accurate information on their genome structure and mutation patterns (at least 10 mutations described in the Human Gene Mutation Database (HGMD)). The CENSOR program was used to estimate amount and class of TDR for the gene region and an arbitrarily selected 1 KB from each end. We assumed all C→T transitions to be possible 5-methylcytosine-associated mutations (MAM) and calculated the number and proportion of MAM in the 385 genes. If there is a strong correlation between methylation of certain CpX dinuclecotides and TDR we might be able to detect it despite limitations of available data for this analysis. We found statistically significant correlations between: i) TDR and number of MAM in genes (r =0.118, p =0.02), ii) SINE-TDR and proportion of CpG→TpG (r =0.11, p =0.03); limited to MIR elements only (r =0.14, p =0.006), and iii) LINE-TDR and proportion of CpT→TpT (r =0.166, p =0.04). The group of genes with no TDR had a statistically significant lower proportion of MAM (184/479, 0.38 vs. 6466/14524, 0.46; p =0.009) with differences noted for CpA→TpA (35/479, 0.073 vs. 1380/11474; p =0.003). In addition, CpT→TpT were least common in genes with no TDR (8/479, 0.017), intermediate in genes with TDR in genomic sequence but not mRNA (337/11474, 0.029) and most common in genes with TDR within mature mRNA (121/3050, 0.040; p for trend=0.003). Our data suggest that TDR adjacent to genes may sometimes influence methylation of cytosines in coding sequences to a degree that it affects mutation patterns. These observations should be followed up with further database analysis and biochemical studies. [Copyright &y& Elsevier]

Published
2006
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