Results 131 to 140 of about 8,539 (162)

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY. [PDF]

Diabetologia
Laver TW, Sriram A, Wakeling MN, Şiklar Z, Kobaisi F, Kalyon O, Hattersley AT, Weedon MN, Flanagan SE, De Franco E, Colclough K, Patel KA.   +11 more
europepmc   +1 more source

FABIAN-variant 2026: improved prediction of the effects of DNA variants on transcription factor binding. [PDF]

Nucleic Acids Res
Steinhaus R, Robinson PN, Seelow D.
europepmc   +1 more source

Management and outcomes in pregnant patients with monogenic diabetes due to pathogenic variants in <i>GCK</i> and <i>HNF1A</i> genes. [PDF]

Front Endocrinol (Lausanne)
Szopa M, Zawadzka K, Kania M, Witek P, Cyganek K.   +4 more
europepmc   +1 more source

Integrated genomic analyses identify oncogenic pathway interplay in hepatocarcinogenesis defining specific molecular subtypes. [PDF]

Nat Commun
Pan L, Hirsch TZ, Fang J, Seretny A, Imbeaud S, Jin S, Gege OO, Rebouissou S, Sidali S, Ammiche N, Calderaro J, Amaddeo G, Blanc JF, Le Bail B, Ziol M, Celton-Morizur S, Paradis V, Llovet JM, Tschaharganeh DF, Nault JC, Desdouets C, Caruso S, Zucman-Rossi J.   +22 more
europepmc   +1 more source

Novel variants of monogenic diabetes and impact of genetic diagnosis on treatment strategies. [PDF]

Front Med (Lausanne)
Stankute I, Cemerkaite A, Leonaviciute G, Sukys M, Aleknaviciene K, Ugenskiene R, Verkauskiene R.   +6 more
europepmc   +1 more source

Higher frequency of subclonal anti-EGFR resistance mutations in post-treatment samples from patients with colorectal cancer liver metastases following anti-EGFR-based conversion chemotherapy. [PDF]

PLoS One
Steup C, Mondorf A, Wild P, Pession U, Bechstein WO, Michael FA, Winter M, Bein J, Zeuzem S, Trojan J, Koch C.   +10 more
europepmc   +1 more source

High prevalence of maturity-onset diabetes of the young in the Czech Republic: A 25-year nationwide registry-based study. [PDF]

Diabet Med
Dusatkova P, Pavlikova M, Cermakova M, Vesela K, Kolarova K, Elblova L, Sumnik Z, Lebl J, Pruhova S.   +8 more
europepmc   +1 more source

Breakpoint-resolved balanced t(2;12)(q35;q24.31) disrupting <i>HNF1A</i> in multigenerational MODY-3: Diagnostic utility of long-read genome sequencing and therapeutic impact. [PDF]

Metabol Open
Rivero-García P, Mutchinick OM, Huerta-Ávila E, Colorado IA, Alfonso-López C, Rivera-Juárez R, Santiago-Cano V, Morales-Suárez JJ, Hidalgo-Miranda A, Svyryd Y.   +9 more
europepmc   +1 more source

Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach. [PDF]

J Diabetes Res
Sefid F, Dehghan Tezerjani M, Asadollahi S, Madani SA, Pardal T, Imani M, Salmani Z, Rahmanian M, Hozhabri H, Kalantar SM, Vahidi Mehrjardi MY.   +10 more
europepmc   +1 more source

TGF-β serves as a critical signaling determinant of liver progenitor cell activation and function. [PDF]

J Clin Invest
Tong C, Lin T, Wang H, Jiang L, Yuan X, Luo W, Zhou M, De La Torre C, Liu H, Shao C, Hammad S, Gao H, Xie J, Xu L, Liebe R, Gu Z, Ebert MP, Ding H, Dooley S, Weng HL.   +19 more
europepmc   +1 more source