Phenotypic determinants in hepatocyte nuclear factor 1α (HNf1α) mutations

被引：0
|
作者：
Hattersley, A
Appleton, M
Ellard, S
Frayling, T
Bulman, M
Tack, C
Clark, P
机构：
来源：
DIABETES | 1998年 / 47卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
698
引用
收藏
页码：A179 / A179
页数：1
相关论文
共 50 条
  • [21] HYPOMAGNESEMIA, RENAL CYSTS AND UTERINE AGENESIS DUE TO HEPATOCYTE NUCLEAR FACTOR 1BETA (HNF1β) MUTATION
    Verma, Ashish
    Kahoro, Joseph
    Samat, Divya
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2023, 81 (04) : S87 - S87
  • [22] Two distinct teleost hepatocyte nuclear factor 1 genes, hnf1α/tcf1 and hnf1β/tcf2, abundantly expressed in liver, pancreas, gut and kidney of zebrafish
    Gong, HY
    Lin, CJF
    Chen, MHC
    Hu, MC
    Lin, GH
    Zhou, Y
    Zon, LI
    Wu, JL
    GENE, 2004, 338 (01) : 35 - 46
  • [23] Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule
    Terryn, Sara
    Tanaka, Karo
    Lengele, Jean-Philippe
    Olinger, Eric
    Dubois-Laforgue, Daniele
    Garbay, Serge
    Kozyraki, Renata
    Van der Smissen, Patrick
    Christensen, Erik I.
    Courtoy, Pierre J.
    Bellanne-Chantelot, Christine
    Timsit, Jose
    Pontoglio, Marco
    Devuyst, Olivier
    KIDNEY INTERNATIONAL, 2016, 89 (05) : 1075 - 1089
  • [24] Expression of the α7 isoform of hepatocyte nuclear factor (HNF) 4 is activated by HNF6/OC-2 and HNF1 and repressed by HNF4α1 in the liver
    Briançon, N
    Bailly, A
    Clotman, F
    Jacquemin, P
    Lemaigre, FP
    Weiss, MC
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (32) : 33398 - 33408
  • [25] Proteomic screen defines the hepatocyte nuclear factor 1α-binding partners and identifies HMGB1 as a new cofactor of HNF1α
    Yu, Miao
    Wang, Jian
    Li, Wei
    Yuan, Yan Zhi
    Li, Chang Yan
    Qian, Xiao Hong
    Xu, Wang Xiang
    Zhan, Yi Qun
    Yang, Xiao Ming
    NUCLEIC ACIDS RESEARCH, 2008, 36 (04) : 1209 - 1219
  • [26] Hepatocyte nuclear factor 1Beta (HNF1β)-MODY (Maturity-onset diabetes of the young): A diagnostic challenge
    Ng, N.
    Mijares-Zammuner, M.
    Siddique, N.
    Kim, J. Hee
    Burke, M.
    Byrne, M. M.
    IRISH JOURNAL OF MEDICAL SCIENCE, 2022, 191 (SUPPL 4) : 105 - 105
  • [27] Phenotypic heterogeneity in Chinese patients with hepatocyte nuclear factor-1β mutations
    Wang, Congrong
    Zhang, Rong
    Lu, Jingyi
    Jiang, Feng
    Hu, Cheng
    Zhou, Jian
    Liu, Fang
    Zhang, Feng
    Qin, Wen
    Li, Mei
    Ma, Xiaojing
    Yan, Jingbin
    Bao, Yuqian
    Xiang, Kunsan
    Jia, Weiping
    DIABETES RESEARCH AND CLINICAL PRACTICE, 2012, 95 (01) : 119 - 124
  • [28] Stimulation of angiotensin-converting enzyme 2 promoter activity by hepatocyte nuclear factor 1β (HNF1β) in insulinoma cells
    Pedersen, Kim Brint
    Lazartigues, Eric
    FASEB JOURNAL, 2011, 25
  • [29] Structural and calorimetric studies demonstrate that the hepatocyte nuclear factor 1β (HNF1β) transcription factor is imported into the nucleus via a monopartite NLS sequence
    Wiedmann, Mareike M.
    Aibara, Shintaro
    Spring, David R.
    Stewart, Murray
    Brenton, James D.
    JOURNAL OF STRUCTURAL BIOLOGY, 2016, 195 (03) : 273 - 281
  • [30] Regulation of PDZ domain-containing 1 (PDZK1) expression by hepatocyte nuclear factor-1α (HNF1α) in human kidney
    Prestin, Katharina
    Hussner, Janine
    Ferreira, Celio
    Seibert, Isabell
    Breitung, Vivien
    Zimmermann, Uwe
    Schwabedissen, Henriette E. Meyer Zu
    AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, 2017, 313 (04) : F973 - F983
12345