De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

被引：0
|
作者：
Juraj Stanik
Petra Dusatkova
Ondrej Cinek
Lucia Valentinova
Miroslava Huckova
Martina Skopkova
Lenka Dusatkova
Daniela Stanikova
Mikulas Pura
Iwar Klimes
Jan Lebl
Daniela Gasperikova
Stepanka Pruhova
机构：
[1] Slovak Academy of Sciences,DIABGENE Laboratory, Institute of Experimental Endocrinology
[2] Medical Faculty of Comenius University,First Department of Pediatrics
[3] Charles University in Prague and University Hospital Motol,Department of Pediatrics, 2nd Faculty of Medicine
[4] National Institute of Endocrinology and Diabetology,Centre for Molecular Medicine
[5] Slovak Academy of Sciences,undefined
来源：
Diabetologia | 2014年 / 57卷
关键词：
De novo mutations; Diabetes; MODY;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：480 / 484
页数：4
相关论文
共 50 条
  • [1] De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed
    Stanik, Juraj
    Dusatkova, Petra
    Cinek, Ondrej
    Valentinova, Lucia
    Huckova, Miroslava
    Skopkova, Martina
    Dusatkova, Lenka
    Stanikova, Daniela
    Pura, Mikulas
    Klimes, Iwar
    Lebl, Jan
    Gasperikova, Daniela
    Pruhova, Stepanka
    DIABETOLOGIA, 2014, 57 (03) : 480 - 484
  • [2] GCK, HNF1A and HNF4A variant analysis in suspected MODY patients
    Zemeckiene, Zivile
    Sukys, Marius
    Jonikas, Rimvydas
    Nasvytiene, Inga
    Valanciute, Inga
    Poceviciene, Inga
    Ugenskiene, Rasa
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 148 - 149
  • [3] MODY genes HNF1A, GCK and HNF4A pathogenic variant spectrum in pediatric patients
    Sukys, M.
    Asmoniene, V.
    Traberg, R.
    Cereskevicius, D.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1262 - 1263
  • [4] Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and HNF4A
    Stanescu, Diana E.
    Hughes, Nkecha
    Kaplan, Bernard
    Stanley, Charles A.
    De Leon, Diva D.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (10): : E2026 - E2030
  • [5] Management of pregnancy in women with monogenic diabetes due to mutations in GCK, HNF1A and HNF4A genes
    Crowley, M. T.
    Paponette, B.
    Bacon, S.
    Byrne, M. M.
    FRONTIERS IN GENETICS, 2024, 15
  • [6] Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
    Mirshahi, Uyenlinh L.
    Colclough, Kevin
    Wright, Caroline F.
    Wood, Andrew R.
    Beaumont, Robin N.
    Tyrrell, Jessica
    Laver, Thomas W.
    Stahl, Richard
    Golden, Alicia
    Goehringer, Jessica M.
    Frayling, Timothy F.
    Hattersley, Andrew T.
    Carey, David J.
    Weedon, Michael N.
    Patel, Kashyap A.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2022, 109 (11) : 2018 - 2028
  • [7] Double Heterozygous Mutations Involving Both HNF1A/MODY3 and HNF4A/MODY1 Genes
    Forlani, Gabriele
    Zucchini, Stefano
    Di Rocco, Antonio
    Di Luzio, Raffaella
    Scipione, Mirella
    Marasco, Elena
    Romeo, Giovanni
    Marchesini, Giulio
    Mantovani, Vilma
    DIABETES CARE, 2010, 33 (11) : 2336 - 2338
  • [8] Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations
    Tung, Joanna Yuet-ling
    Boodhansingh, Kara
    Stanley, Charles A.
    De Leon, Diva D.
    PEDIATRIC DIABETES, 2018, 19 (05) : 910 - 916
  • [9] Lack of mutations of HNF1A genes, HNF4A and INS in ten Tunisian patients with MODY type diabetes
    Amara, A.
    Ghezail, H.
    Brahem, R.
    Gribaa, M.
    Philippe, J.
    Dechaume, A.
    Saad, A.
    Chadli-Chaieb, M.
    Chaieb, L.
    Froguel, P.
    Vaxillaire, M.
    DIABETES & METABOLISM, 2011, 37 : A64 - A65
  • [10] Mutation spectrum of GCK, HNF1A and HNF1B in MODY patients and 40 novel mutations
    Ozkinay, F.
    Isik, E.
    Simsek, D. G.
    Aykut, A.
    Karaca, E.
    Ozen, S.
    Bolat, H.
    Atik, T.
    Saygili, F.
    Kartal, E.
    Gul, U.
    Anik, A.
    Tutunculer, F.
    Eren, E.
    Ozbek, M. N.
    Bober, E.
    Abaci, A.
    Kirel, B.
    Ersoy, B.
    Buyukinan, M.
    Kara, C.
    Cakir, E. P.
    Yildirim, R.
    Isguven, P.
    Dagdeviren, A.
    Agladioglu, S. Y.
    Dogan, M.
    Sangun, O.
    Arslanoglu, I.
    Korkmaz, H. A.
    Temiz, F.
    Onay, H.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 208 - 209
12345