Wilms tumor mutational subclasses converge to drive CCND2 overexpression.
Medrxiv : The Preprint Server For Health Sciences
Xu, Lin L; Desai, Kavita K; Kim, Jiwoong J; Zhou, Qinbo Q; Guo, Lei L; Xiao, Xue X; Zhang, Yanfeng Y; Zhou, Li L; Yuksel, Aysen A; Catchpoole, Daniel R DR; Amatruda, James F JF; Chen, Kenneth S KS
Publication Date: 2023-02-02
Variant appearance in text: HNF1A: 92G>A; Gly31Asp
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.
Diabetologia
Stalbow, Lauren A LA; Preuss, Michael H MH; Smit, Roelof A J RAJ; Chami, Nathalie N; Bjørkhaug, Lise L; Aukrust, Ingvild I; Gloyn, Anna L AL; Loos, Ruth J F RJF
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
Reference exome data for a Northern Brazilian population.
Scientific Data
Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB
Publication Date: 2020-10-21
Variant appearance in text: HNF1A: 92G>A; Gly31Asp; rs137853247
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
American Journal Of Human Genetics
Althari, Sara S; Najmi, Laeya A LA; Bennett, Amanda J AJ; Aukrust, Ingvild I; Rundle, Jana K JK; Colclough, Kevin K; Molnes, Janne J; Kaci, Alba A; Nawaz, Sameena S; van der Lugt, Timme T; Hassanali, Neelam N; Mahajan, Anubha A; Molven, Anders A; Ellard, Sian S; McCarthy, Mark I MI; Bjørkhaug, Lise L; Njølstad, Pål Rasmus PR; Gloyn, Anna L AL
Publication Date: 2020-10-01
Variant appearance in text: HNF1A: 92G>A; Gly31Asp
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: HNF1A: 92G>A; Gly31Asp
The molecular landscape of ETMR at diagnosis and relapse.
Nature
Lambo, Sander S; Gröbner, Susanne N SN; Rausch, Tobias T; Waszak, Sebastian M SM; Schmidt, Christin C; Gorthi, Aparna A; Romero, July Carolina JC; Mauermann, Monika M; Brabetz, Sebastian S; Krausert, Sonja S; Buchhalter, Ivo I; Koster, Jan J; Zwijnenburg, Danny A DA; Sill, Martin M; Hübner, Jens-Martin JM; Mack, Norman N; Schwalm, Benjamin B; Ryzhova, Marina M; Hovestadt, Volker V; Papillon-Cavanagh, Simon S; Chan, Jennifer A JA; Landgraf, Pablo P; Ho, Ben B; Milde, Till T; Witt, Olaf O; Ecker, Jonas J; Sahm, Felix F; Sumerauer, David D; Ellison, David W DW; Orr, Brent A BA; Darabi, Anna A; Haberler, Christine C; Figarella-Branger, Dominique D; Wesseling, Pieter P; Schittenhelm, Jens J; Remke, Marc M; Taylor, Michael D MD; Gil-da-Costa, Maria J MJ; Łastowska, Maria M; Grajkowska, Wiesława W; Hasselblatt, Martin M; Hauser, Peter P; Pietsch, Torsten T; Uro-Coste, Emmanuelle E; Bourdeaut, Franck F; Masliah-Planchon, Julien J; Rigau, Valérie V; Alexandrescu, Sanda S; Wolf, Stephan S; Li, Xiao-Nan XN; Schüller, Ulrich U; Snuderl, Matija M; Karajannis, Matthias A MA; Giangaspero, Felice F; Jabado, Nada N; von Deimling, Andreas A; Jones, David T W DTW; Korbel, Jan O JO; von Hoff, Katja K; Lichter, Peter P; Huang, Annie A; Bishop, Alexander J R AJR; Pfister, Stefan M SM; Korshunov, Andrey A; Kool, Marcel M
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.
Molecular Medicine Reports
Glotov, Oleg S OS; Serebryakova, Elena A EA; Turkunova, Mariia E ME; Efimova, Olga A OA; Glotov, Andrey S AS; Barbitoff, Yury A YA; Nasykhova, Yulia A YA; Predeus, Alexander V AV; Polev, Dmitrii E DE; Fedyakov, Mikhail A MA; Polyakova, Irina V IV; Ivashchenko, Tatyana E TE; Shved, Natalia Y NY; Shabanova, Elena S ES; Tiselko, Alena V AV; Romanova, Olga V OV; Sarana, Andrey M AM; Pendina, Anna A AA; Scherbak, Sergey G SG; Musina, Ekaterina V EV; Petrovskaia-Kaminskaia, Anastasiia V AV; Lonishin, Liubov R LR; Ditkovskaya, Liliya V LV; Zhelenina, Liudmila А LА; Tyrtova, Ludmila V LV; Berseneva, Olga S OS; Skitchenko, Rostislav K RK; Suspitsin, Evgenii N EN; Bashnina, Elena B EB; Baranov, Vladislav S VS
Targeted next generation sequencing as a tool for precision medicine.
Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03
Variant appearance in text: HNF1A: G31D; rs137853247
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.
Plos One
Martin-Morales, Lorena L; Rofes, Paula P; Diaz-Rubio, Eduardo E; Llovet, Patricia P; Lorca, Victor V; Bando, Inmaculada I; Perez-Segura, Pedro P; de la Hoya, Miguel M; Garre, Pilar P; Garcia-Barberan, Vanesa V; Caldes, Trinidad T
Publication Date: 2018
Variant appearance in text: HNF1A: 92G>A; Gly31Asp
Characteristics of maturity onset diabetes of the young in a large diabetes center.
Pediatric Diabetes
Chambers, Christina C; Fouts, Alexandra A; Dong, Fran F; Colclough, Kevin K; Wang, Zhenyuan Z; Batish, Sat Dev SD; Jaremko, Malgorzata M; Ellard, Sian S; Hattersley, Andrew T AT; Klingensmith, Georgeanna G; Steck, Andrea K AK
Publication Date: 2016-08
Variant appearance in text: HNF1A: 92G>A; Gly31Asp
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
Mutations in HNF1A result in marked alterations of plasma glycan profile.
Diabetes
Thanabalasingham, Gaya G; Huffman, Jennifer E JE; Kattla, Jayesh J JJ; Novokmet, Mislav M; Rudan, Igor I; Gloyn, Anna L AL; Hayward, Caroline C; Adamczyk, Barbara B; Reynolds, Rebecca M RM; Muzinic, Ana A; Hassanali, Neelam N; Pucic, Maja M; Bennett, Amanda J AJ; Essafi, Abdelkader A; Polasek, Ozren O; Mughal, Saima A SA; Redzic, Irma I; Primorac, Dragan D; Zgaga, Lina L; Kolcic, Ivana I; Hansen, Torben T; Gasperikova, Daniela D; Tjora, Erling E; Strachan, Mark W J MW; Nielsen, Trine T; Stanik, Juraj J; Klimes, Iwar I; Pedersen, Oluf B OB; Njølstad, Pål R PR; Wild, Sarah H SH; Gyllensten, Ulf U; Gornik, Olga O; Wilson, James F JF; Hastie, Nicholas D ND; Campbell, Harry H; McCarthy, Mark I MI; Rudd, Pauline M PM; Owen, Katharine R KR; Lauc, Gordan G; Wright, Alan F AF
Publication Date: 2013-04
Variant appearance in text: HNF1A: 92G>A; Gly31Asp
Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young.
Diabetes Care
Thanabalasingham, Gaya G; Pal, Aparna A; Selwood, Mary P MP; Dudley, Christina C; Fisher, Karen K; Bingley, Polly J PJ; Ellard, Sian S; Farmer, Andrew J AJ; McCarthy, Mark I MI; Owen, Katharine R KR
Primary pancreatic lymphoma in a patient with maturity onset diabetes of the young type 3.
Mediterranean Journal Of Hematology And Infectious Diseases
Bozzoli, Valentina V; Tisi, Maria Chiara MC; Pianese, Luigi L; Tumini, Stefano S; Rufini, Vittoria V; Calcagni, Maria Lucia ML; Pitocco, Dario D; Larghi, Alberto A; Larocca, Luigi Maria LM; Massini, Giuseppina G; Teofili, Luciana L; D'Alò, Francesco F; Hohaus, Stefan S