Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Genetic Studies of Metabolic Syndrome in Arab Populations: A Systematic Review and Meta-Analysis.
Frontiers In Genetics
Al-Homedi, Zahrah Z; Afify, Nariman N; Memon, Mashal M; Alsafar, Habiba H; Tay, Guan G; Jelinek, Herbert F HF; Mousa, Mira M; Abu-Samra, Nadia N; Osman, Wael W
Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.
Aids (London, England)
Sherman, Brad T BT; Hu, Xiaojun X; Singh, Kanal K; Haine, Lillian L; Rupert, Adam W AW; Neaton, James D JD; Lundgren, Jens D JD; Imamichi, Tomozumi T; Chang, Weizhong W; Lane, H Clifford HC; ,
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-31
Variant appearance in text: HNF1A: 1769-24T>C; rs735396
Replication of 15 loci involved in human plasma protein N-glycosylation in 4802 samples from four cohorts.
Glycobiology
Sharapov, Sodbo Zh SZ; Shadrina, Alexandra S AS; Tsepilov, Yakov A YA; Elgaeva, Elizaveta E EE; Tiys, Evgeny S ES; Feoktistova, Sofya G SG; Zaytseva, Olga O OO; Vuckovic, Frano F; Cuadrat, Rafael R; Jäger, Susanne S; Wittenbecher, Clemens C; Karssen, Lennart C LC; Timofeeva, Maria M; Tillin, Therese T; Trbojević-Akmačić, Irena I; Štambuk, Tamara T; Rudman, Najda N; Krištić, Jasminka J; Šimunović, Jelena J; Momčilović, Ana A; Vilaj, Marija M; Jurić, Julija J; Slana, Anita A; Gudelj, Ivan I; Klarić, Thomas T; Puljak, Livia L; Skelin, Andrea A; Kadić, Antonia Jeličić AJ; Van Zundert, Jan J; Chaturvedi, Nishi N; Campbell, Harry H; Dunlop, Malcolm M; Farrington, Susan M SM; Doherty, Margaret M; Dagostino, Concetta C; Gieger, Christian C; Allegri, Massimo M; Williams, Frances F; Schulze, Matthias B MB; Lauc, Gordan G; Aulchenko, Yurii S YS
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Defining the genetic control of human blood plasma N-glycome using genome-wide association study.
Human Molecular Genetics
Sharapov, Sodbo Zh SZ; Tsepilov, Yakov A YA; Klaric, Lucija L; Mangino, Massimo M; Thareja, Gaurav G; Shadrina, Alexandra S AS; Simurina, Mirna M; Dagostino, Concetta C; Dmitrieva, Julia J; Vilaj, Marija M; Vuckovic, Frano F; Pavic, Tamara T; Stambuk, Jerko J; Trbojevic-Akmacic, Irena I; Kristic, Jasminka J; Simunovic, Jelena J; Momcilovic, Ana A; Campbell, Harry H; Doherty, Margaret M; Dunlop, Malcolm G MG; Farrington, Susan M SM; Pucic-Bakovic, Maja M; Gieger, Christian C; Allegri, Massimo M; Louis, Edouard E; Georges, Michel M; Suhre, Karsten K; Spector, Tim T; Williams, Frances M K FMK; Lauc, Gordan G; Aulchenko, Yurii S YS
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study.
Bmc Research Notes
Potjer, Thomas P TP; van der Stoep, Nienke N; Houwing-Duistermaat, Jeanine J JJ; Konings, Ingrid C A W IC; Aalfs, Cora M CM; van den Akker, Peter C PC; Ausems, Margreet G MG; Dommering, Charlotte J CJ; van der Kolk, Lizet E LE; Maiburg, Merel C MC; Spruijt, Liesbeth L; Wagner, Anja A; Vasen, Hans F A HF; Hes, Frederik J FJ
Pathway analysis of genome-wide association study data highlights pancreatic development genes as susceptibility factors for pancreatic cancer.
Carcinogenesis
Li, Donghui D; Duell, Eric J EJ; Yu, Kai K; Risch, Harvey A HA; Olson, Sara H SH; Kooperberg, Charles C; Wolpin, Brian M BM; Jiao, Li L; Dong, Xiaoqun X; Wheeler, Bill B; Arslan, Alan A AA; Bueno-de-Mesquita, H Bas HB; Fuchs, Charles S CS; Gallinger, Steven S; Gross, Myron M; Hartge, Patricia P; Hoover, Robert N RN; Holly, Elizabeth A EA; Jacobs, Eric J EJ; Klein, Alison P AP; LaCroix, Andrea A; Mandelson, Margaret T MT; Petersen, Gloria G; Zheng, Wei W; Agalliu, Ilir I; Albanes, Demetrius D; Boutron-Ruault, Marie-Christine MC; Bracci, Paige M PM; Buring, Julie E JE; Canzian, Federico F; Chang, Kenneth K; Chanock, Stephen J SJ; Cotterchio, Michelle M; Gaziano, J Michael JM; Giovannucci, Edward L EL; Goggins, Michael M; Hallmans, Göran G; Hankinson, Susan E SE; Hoffman Bolton, Judith A JA; Hunter, David J DJ; Hutchinson, Amy A; Jacobs, Kevin B KB; Jenab, Mazda M; Khaw, Kay-Tee KT; Kraft, Peter P; Krogh, Vittorio V; Kurtz, Robert C RC; McWilliams, Robert R RR; Mendelsohn, Julie B JB; Patel, Alpa V AV; Rabe, Kari G KG; Riboli, Elio E; Shu, Xiao-Ou XO; Tjønneland, Anne A; Tobias, Geoffrey S GS; Trichopoulos, Dimitrios D; Virtamo, Jarmo J; Visvanathan, Kala K; Watters, Joanne J; Yu, Herbert H; Zeleniuch-Jacquotte, Anne A; Amundadottir, Laufey L; Stolzenberg-Solomon, Rachael Z RZ
Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.
Plos Genetics
Lauc, Gordan G; Essafi, Abdelkader A; Huffman, Jennifer E JE; Hayward, Caroline C; Knežević, Ana A; Kattla, Jayesh J JJ; Polašek, Ozren O; Gornik, Olga O; Vitart, Veronique V; Abrahams, Jodie L JL; Pučić, Maja M; Novokmet, Mislav M; Redžić, Irma I; Campbell, Susan S; Wild, Sarah H SH; Borovečki, Fran F; Wang, Wei W; Kolčić, Ivana I; Zgaga, Lina L; Gyllensten, Ulf U; Wilson, James F JF; Wright, Alan F AF; Hastie, Nicholas D ND; Campbell, Harry H; Rudd, Pauline M PM; Rudan, Igor I
Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.
Plos One
Jafar-Mohammadi, Bahram B; Groves, Christopher J CJ; Owen, Katharine R KR; Frayling, Timothy M TM; Hattersley, Andrew T AT; McCarthy, Mark I MI; Gloyn, Anna L AL
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
American Journal Of Human Genetics
Reiner, Alexander P AP; Barber, Mathew J MJ; Guan, Yongtao Y; Ridker, Paul M PM; Lange, Leslie A LA; Chasman, Daniel I DI; Walston, Jeremy D JD; Cooper, Gregory M GM; Jenny, Nancy S NS; Rieder, Mark J MJ; Durda, J Peter JP; Smith, Joshua D JD; Novembre, John J; Tracy, Russell P RP; Rotter, Jerome I JI; Stephens, Matthew M; Nickerson, Deborah A DA; Krauss, Ronald M RM
Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
American Journal Of Human Genetics
Ridker, Paul M PM; Pare, Guillaume G; Parker, Alex A; Zee, Robert Y L RY; Danik, Jacqueline S JS; Buring, Julie E JE; Kwiatkowski, David D; Cook, Nancy R NR; Miletich, Joseph P JP; Chasman, Daniel I DI