Digenic inheritance of hepatocyte nuclear factor-1α and -1β with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations

被引:15
作者
Karges, Beate
Bergmann, Carsten
Scholl, Katrina
Heinze, Eberhard
Rasche, Franz Maximilian
Zerres, Klaus
Debatin, Klaus-Michael
Wabitsch, Martin
Karges, Wolfram
机构
[1] Univ Ulm, Childrens Hosp, Dept Pediat Endocrinol & Diabet, D-89075 Ulm, Germany
[2] Univ Aachen, Rhein Westfal TH Aachen, Inst Human Genet, D-5100 Aachen, Germany
[3] Univ Ulm, Dept Nephrol, D-89075 Ulm, Germany
[4] Univ Aachen, Rhein Westfal TH Aachen, Dept Endocrinol & Diabet, D-5100 Aachen, Germany
关键词
D O I
10.2337/dc06-2618
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:1613 / 1614
页数:2
相关论文
共 9 条
[1]   Clinical spectrum associated with hepatocyte nuclear factor-1β mutations [J].
Bellanné-Chantelot, C ;
Chauveau, D ;
Gautier, JF ;
Dubois-Laforgue, D ;
Clauin, S ;
Beaufils, S ;
Wilhelm, JM ;
Boitard, C ;
Noël, LH ;
Velho, G ;
Timsit, J .
ANNALS OF INTERNAL MEDICINE, 2004, 140 (07) :510-517
[2]   Distinct molecular and morphogenetic properties of mutations in the human HNF1β gene that lead to defective kidney development [J].
Bohn, S ;
Thomas, H ;
Turan, G ;
Ellard, S ;
Bingham, C ;
Hattersley, AT ;
Ryffel, GU .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2003, 14 (08) :2033-2041
[3]   Thyroid development and its disorders: Genetics and molecular mechanisms [J].
De Felice, M ;
Di Lauro, R .
ENDOCRINE REVIEWS, 2004, 25 (05) :722-746
[4]   Mechanisms of disease: Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. [J].
Fajans, SS ;
Bell, GI ;
Polonsky, KS .
NEW ENGLAND JOURNAL OF MEDICINE, 2001, 345 (13) :971-980
[5]   Mutation of hepatocyte nuclear factor-1β inhibits Pkhd1 gene expression and produces renal cysts in mice [J].
Hiesberger, T ;
Bai, Y ;
Shao, XL ;
McNally, BT ;
Sinclair, AM ;
Tian, X ;
Somlo, S ;
Igarashi, P .
JOURNAL OF CLINICAL INVESTIGATION, 2004, 113 (06) :814-825
[6]   Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1α (MODY3) gene [J].
Malecki, MT ;
Skupien, J ;
Gorczynska-Kosiorz, S ;
Klupa, T ;
Nazim, J ;
Moczulski, DK ;
Sieradzki, J .
DIABETES CARE, 2005, 28 (11) :2774-2776
[7]   Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1α and -1β mutations [J].
Pearson, ER ;
Badman, MK ;
Lockwood, CR ;
Clark, PM ;
Ellard, S ;
Bingham, C ;
Hattersley, AT .
DIABETES CARE, 2004, 27 (05) :1102-1107
[8]   Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences [J].
Ryffel, GU .
JOURNAL OF MOLECULAR ENDOCRINOLOGY, 2001, 27 (01) :11-29
[9]   Characterization and prediction of alternative splice sites [J].
Wang, M ;
Marín, A .
GENE, 2006, 366 (02) :219-227