In silico profiling of nonsynonymous SNPs of fat mass and obesity-associated gene: possible impacts on the treatment of non-alcoholic fatty liver disease.
Lipids In Health And Disease
Patnaik, Damini D; Jena, Atala Bihari AB; Kerry, Rout George RG; Duttaroy, Asim K AK
Publication Date: 2023-01-30
Variant appearance in text: FTO: R316Q; rs121918214
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Intracellular and tissue specific expression of FTO protein in pig: changes with age, energy intake and metabolic status.
Scientific Reports
Ferenc, Karolina K; Pilžys, Tomaš T; Garbicz, Damian D; Marcinkowski, Michał M; Skorobogatov, Oleksandr O; Dylewska, Małgorzata M; Gajewski, Zdzisław Z; Grzesiuk, Elżbieta E; Zabielski, Romuald R
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: FTO: 947G>A; rs121918214
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: FTO: R316Q; rs121918214
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.
The Journal Of Clinical Endocrinology And Metabolism
Howard, Sasha R SR; Guasti, Leonardo L; Poliandri, Ariel A; David, Alessia A; Cabrera, Claudia P CP; Barnes, Michael R MR; Wehkalampi, Karoliina K; O'Rahilly, Stephen S; Aiken, Catherine E CE; Coll, Anthony P AP; Ma, Marcella M; Rimmington, Debra D; Yeo, Giles S H GSH; Dunkel, Leo L
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.
Journal Of Human Genetics
Çağlayan, Ahmet O AO; Tüysüz, Beyhan B; Coşkun, Süleyman S; Quon, Jennifer J; Harmancı, Akdes S AS; Baranoski, Jacob F JF; Baran, Burçin B; Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Mane, Shrikant M SM; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Günel, Murat M
FTO influences adipogenesis by regulating mitotic clonal expansion.
Nature Communications
Merkestein, Myrte M; Laber, Samantha S; McMurray, Fiona F; Andrew, Daniel D; Sachse, Gregor G; Sanderson, Jeremy J; Li, Mengdi M; Usher, Samuel S; Sellayah, Dyan D; Ashcroft, Frances M FM; Cox, Roger D RD
McMurray, Fiona F; Demetriades, Marina M; Aik, WeiShen W; Merkestein, Myrte M; Kramer, Holger H; Andrew, Daniel S DS; Scudamore, Cheryl L CL; Hough, Tertius A TA; Wells, Sara S; Ashcroft, Frances M FM; McDonough, Michael A MA; Schofield, Christopher J CJ; Cox, Roger D RD
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
Frontiers In Genetics
Namjou, Bahram B; Keddache, Mehdi M; Marsolo, Keith K; Wagner, Michael M; Lingren, Todd T; Cobb, Beth B; Perry, Cassandra C; Kennebeck, Stephanie S; Holm, Ingrid A IA; Li, Rongling R; Crimmins, Nancy A NA; Martin, Lisa L; Solti, Imre I; Kohane, Isaac S IS; Harley, John B JB
Role for the obesity-related FTO gene in the cellular sensing of amino acids.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Gulati, Pawan P; Cheung, Man Ka MK; Antrobus, Robin R; Church, Chris D CD; Harding, Heather P HP; Tung, Yi-Chun Loraine YC; Rimmington, Debra D; Ma, Marcella M; Ron, David D; Lehner, Paul J PJ; Ashcroft, Frances M FM; Cox, Roger D RD; Coll, Anthony P AP; O'Rahilly, Stephen S; Yeo, Giles S H GS
Adult onset global loss of the fto gene alters body composition and metabolism in the mouse.
Plos Genetics
McMurray, Fiona F; Church, Chris D CD; Larder, Rachel R; Nicholson, George G; Wells, Sara S; Teboul, Lydia L; Tung, Y C Loraine YC; Rimmington, Debra D; Bosch, Fatima F; Jimenez, Veronica V; Yeo, Giles S H GS; O'Rahilly, Stephen S; Ashcroft, Frances M FM; Coll, Anthony P AP; Cox, Roger D RD
Overexpression of Fto leads to increased food intake and results in obesity.
Nature Genetics
Church, Chris C; Moir, Lee L; McMurray, Fiona F; Girard, Christophe C; Banks, Gareth T GT; Teboul, Lydia L; Wells, Sara S; Brüning, Jens C JC; Nolan, Patrick M PM; Ashcroft, Frances M FM; Cox, Roger D RD