Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27
Variant appearance in text: ADIPOQ: 268G>A; rs62625753
Spracklen, Cassandra N CN; Iyengar, Apoorva K AK; Vadlamudi, Swarooparani S; Raulerson, Chelsea K CK; Jackson, Anne U AU; Brotman, Sarah M SM; Wu, Ying Y; Cannon, Maren E ME; Davis, James P JP; Crain, Aaron T AT; Currin, Kevin W KW; Perrin, Hannah J HJ; Narisu, Narisu N; Stringham, Heather M HM; Fuchsberger, Christian C; Locke, Adam E AE; Welch, Ryan P RP; Kuusisto, Johanna K JK; Pajukanta, Päivi P; Scott, Laura J LJ; Li, Yun Y; Collins, Francis S FS; Boehnke, Michael M; Laakso, Markku M; Mohlke, Karen L KL
Publication Date: 2020-09
Variant appearance in text: ADIPOQ: G90S; rs62625753
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits.
Nature Communications
Gilly, Arthur A; Suveges, Daniel D; Kuchenbaecker, Karoline K; Pollard, Martin M; Southam, Lorraine L; Hatzikotoulas, Konstantinos K; Farmaki, Aliki-Eleni AE; Bjornland, Thea T; Waples, Ryan R; Appel, Emil V R EVR; Casalone, Elisabetta E; Melloni, Giorgio G; Kilian, Britt B; Rayner, Nigel W NW; Ntalla, Ioanna I; Kundu, Kousik K; Walter, Klaudia K; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Tsafantakis, Emmanouil E; Dedoussis, George G; Moltke, Ida I; Zeggini, Eleftheria E
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: ADIPOQ: G90S; rs62625753
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: ADIPOQ: G90S; rs62625753
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: ADIPOQ: G90S; rs62625753
Adiponectin Isoform Patterns in Ethnic-Specific ADIPOQ Mutation Carriers: The IRAS Family Study.
Obesity (Silver Spring, Md.)
Tabb, Keri L KL; Gao, Chuan C; Hicks, Pamela J PJ; Hawkins, Gregory A GA; Rotter, Jerome I JI; Chen, Yii-Der Ida YI; Guo, Xiuqing X; Norris, Jill M JM; Lorenzo, Carlos C; Freedman, Barry I BI; Bowden, Donald W DW; Palmer, Nicholette D ND
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: ADIPOQ: 268G>A; Gly90Ser
Empirical characteristics of family-based linkage to a complex trait: the ADIPOQ region and adiponectin levels.
Human Genetics
Hellwege, Jacklyn N JN; Palmer, Nicholette D ND; Mark Brown, W W; Brown, Mark W MW; Ziegler, Julie T JT; Sandy An, S S; An, Sandy S SS; Guo, Xiuqing X; Ida Chen, Y-D YD; Chen, Ida Y-D IY; Taylor, Kent K; Hawkins, Gregory A GA; Ng, Maggie C Y MC; Speliotes, Elizabeth K EK; Lorenzo, Carlos C; Norris, Jill M JM; Rotter, Jerome I JI; Wagenknecht, Lynne E LE; Langefeld, Carl D CD; Bowden, Donald W DW
Publication Date: 2015-02
Variant appearance in text: ADIPOQ: G90S; rs62625753
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: ADIPOQ: G90S; rs62625753
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Genetic analysis of adiponectin variation and its association with type 2 diabetes in African Americans.
Obesity (Silver Spring, Md.)
Sandy An, S S; Palmer, Nicholette D ND; Hanley, Anthony J G AJ; Ziegler, Julie T JT; Mark Brown, W W; Freedman, Barry I BI; Register, Thomas C TC; Rotter, Jerome I JI; Guo, Xiuqing X; Ida Chen, Y-D YD; Wagenknecht, Lynne E LE; Langefeld, Carl D CD; Bowden, Donald W DW
Publication Date: 2013-12
Variant appearance in text: adiponectin: G90S; rs62625753
A comprehensive investigation of variants in genes encoding adiponectin (ADIPOQ) and its receptors (ADIPOR1/R2), and their association with serum adiponectin, type 2 diabetes, insulin resistance and the metabolic syndrome.
Bmc Medical Genetics
Peters, Kirsten E KE; Beilby, John J; Cadby, Gemma G; Warrington, Nicole M NM; Bruce, David G DG; Davis, Wendy A WA; Davis, Timothy Me TM; Wiltshire, Steven S; Knuiman, Matthew M; McQuillan, Brendan M BM; Palmer, Lyle J LJ; Thompson, Peter L PL; Hung, Joseph J
Publication Date: 2013-01-25
Variant appearance in text: ADIPOQ: G90S; rs62625753
Association between ADIPOQ SNPs with plasma adiponectin and glucose homeostasis and adiposity phenotypes in the IRAS Family Study.
Molecular Genetics And Metabolism
An, S Sandy SS; Hanley, Anthony J G AJ; Ziegler, Julie T JT; Brown, W Mark WM; Haffner, Steven M SM; Norris, Jill M JM; Rotter, Jerome I JI; Guo, Xiuqing X; Chen, Y-D Ida YD; Wagenknecht, Lynne E LE; Langefeld, Carl D CD; Bowden, Donald W DW; Palmer, Nicholette D ND
Publication Date: 2012-12
Variant appearance in text: adiponectin: G90S; rs62625753
Estimating the contributions of rare and common genetic variations and clinical measures to a model trait: adiponectin.
Genetic Epidemiology
An, S Sandy SS; Palmer, Nicholette D ND; Hanley, Anthony J G AJ; Ziegler, Julie T JT; Brown, W Mark WM; Haffner, Steven M SM; Norris, Jill M JM; Rotter, Jerome I JI; Guo, Xiuqing X; Chen, Y-D Ida YD; Wagenknecht, Lynne E LE; Langefeld, Carl D CD; Bowden, Donald W DW
Publication Date: 2013-01
Variant appearance in text: ADIPOQ: G90S; rs62625753
Population-specific coding variant underlies genome-wide association with adiponectin level.
Human Molecular Genetics
Croteau-Chonka, Damien C DC; Wu, Ying Y; Li, Yun Y; Fogarty, Marie P MP; Lange, Leslie A LA; Kuzawa, Christopher W CW; McDade, Thomas W TW; Borja, Judith B JB; Luo, Jingchun J; AbdelBaky, Omar O; Combs, Terry P TP; Adair, Linda S LS; Lange, Ethan M EM; Mohlke, Karen L KL
Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ.
Human Molecular Genetics
Wu, Ying Y; Li, Yun Y; Lange, Ethan M EM; Croteau-Chonka, Damien C DC; Kuzawa, Christopher W CW; McDade, Thomas W TW; Qin, Li L; Curocichin, Ghenadie G; Borja, Judith B JB; Lange, Leslie A LA; Adair, Linda S LS; Mohlke, Karen L KL
High-molecular-weight adiponectin and the risk of type 2 diabetes in the ARIC study.
The Journal Of Clinical Endocrinology And Metabolism
Zhu, Na N; Pankow, James S JS; Ballantyne, Christie M CM; Couper, David D; Hoogeveen, Ron C RC; Pereira, Mark M; Duncan, Bruce B BB; Schmidt, Maria Inês MI
Circulating high molecular weight adiponectin isoform is heritable and shares a common genetic background with insulin resistance in nondiabetic White Caucasians from Italy: evidence from a family-based study.
Journal Of Internal Medicine
Menzaghi, C C; Salvemini, L L; Paroni, G G; De Bonis, C C; Mangiacotti, D D; Fini, G G; Doria, A A; Di Paola, R R; Trischitta, V V
Altered distribution of adiponectin isoforms in children with Prader-Willi syndrome (PWS): association with insulin sensitivity and circulating satiety peptide hormones.
Clinical Endocrinology
Haqq, Andrea M AM; Muehlbauer, Michael M; Svetkey, Laura P LP; Newgard, Christopher B CB; Purnell, Jonathan Q JQ; Grambow, Steven C SC; Freemark, Michael S MS