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
Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach.
Biomedicines
Nautiyal, Himani H; Imam, Syed Sarim SS; Alshehri, Sultan S; Ghoneim, Mohammed M MM; Afzal, Muhammad M; Alzarea, Sami I SI; Güven, Emine E; Al-Abbasi, Fahad A FA; Kazmi, Imran I
The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad.
Three-Dimensional Genome Interactions Identify Potential Adipocyte Metabolism-Associated Gene STON1 and Immune-Correlated Gene FSHR at the rs13405728 Locus in Polycystic Ovary Syndrome.
Frontiers In Endocrinology
Cao, Can-Hui CH; Wei, Ye Y; Liu, Rang R; Lin, Xin-Ran XR; Luo, Jia-Qi JQ; Zhang, Qiu-Ju QJ; Lin, Shou-Ren SR; Geng, Lan L; Ye, Si-Kang SK; Shi, Yu Y; Xia, Xi X
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
Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.
Scientific Reports
Tsui, Nancy B Y NBY; Cheng, Gregory G; Chung, Teresa T; Lam, Christopher W K CWK; Yee, Anita A; Chung, Peter K C PKC; Kwan, Tsz-Ki TK; Ko, Elaine E; He, Daihai D; Wong, Wing-Tak WT; Lau, Johnson Y N JYN; Lau, Lok Ting LT; Fok, Manson M
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
Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome.
Nature Communications
Day, Felix R FR; Hinds, David A DA; Tung, Joyce Y JY; Stolk, Lisette L; Styrkarsdottir, Unnur U; Saxena, Richa R; Bjonnes, Andrew A; Broer, Linda L; Dunger, David B DB; Halldorsson, Bjarni V BV; Lawlor, Debbie A DA; Laval, Guillaume G; Mathieson, Iain I; McCardle, Wendy L WL; Louwers, Yvonne Y; Meun, Cindy C; Ring, Susan S; Scott, Robert A RA; Sulem, Patrick P; Uitterlinden, André G AG; Wareham, Nicholas J NJ; Thorsteinsdottir, Unnur U; Welt, Corrine C; Stefansson, Kari K; Laven, Joop S E JSE; Ong, Ken K KK; Perry, John R B JRB
Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease Heterogeneity.
Plos Genetics
Jones, Michelle R MR; Brower, Meredith A MA; Xu, Ning N; Cui, Jinrui J; Mengesha, Emebet E; Chen, Yii-Der I YD; Taylor, Kent D KD; Azziz, Ricardo R; Goodarzi, Mark O MO
Comprehensive assessment of expression of insulin signaling pathway components in subcutaneous adipose tissue of women with and without polycystic ovary syndrome.
Journal Of Clinical & Translational Endocrinology
Xu, Ning N; Geller, David H DH; Jones, Michelle R MR; Funari, Vincent A VA; Azziz, Ricardo R; Goodarzi, Mark O MO
Susceptibility to male infertility: replication study in Japanese men looking for an association with four GWAS-derived loci identified in European men.
Further investigation in europeans of susceptibility variants for polycystic ovary syndrome discovered in genome-wide association studies of Chinese individuals.
The Journal Of Clinical Endocrinology And Metabolism
Brower, Meredith A MA; Jones, Michelle R MR; Rotter, Jerome I JI; Krauss, Ronald M RM; Legro, Richard S RS; Azziz, Ricardo R; Goodarzi, Mark O MO
A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.
Bmc Genetics
Sebastiani, Paola P; Zhao, Zhenming Z; Abad-Grau, Maria M MM; Riva, Alberto A; Hartley, Stephen W SW; Sedgewick, Amanda E AE; Doria, Alessandro A; Montano, Monty M; Melista, Efthymia E; Terry, Dellara D; Perls, Thomas T TT; Steinberg, Martin H MH; Baldwin, Clinton T CT