Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1β

被引：142

作者：

Bingham, C

Hattersley, AT

机构：

[1] Royal Devon & Exeter Hosp, Exeter Kidney Unit, Exeter EX2 5DW, Devon, England

[2] Peninsula Med Sch, Exeter, Devon, England

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2004年 / 19卷 / 11期

关键词：

diabetes; hepatocyte nuclear factor-1 beta; renal cysts; transcription factors;

D O I：

10.1093/ndt/gfh348

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 ; 1002 ; 100602 ;

摘要：

引用

页码：2703 / 2708

页数：6

共 35 条

[1] BADMAN M, 2002, DIABETIC MED S2, V19, pP37
[2] Barbacci E, 1999, DEVELOPMENT, V126, P4795
[3] Mutations in hepatocyte nuclear factor 1β are not a common cause of maturity-onset diabetes of the young in the UK
Beards, F
Frayling, T
Bulman, M
Horikawa, Y
Allen, L
Appleton, M
Bell, GI
Ellard, S
Hattersley, AT
[J]. DIABETES, 1998, 47 (07) : 1152 - 1154
[4] Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation
Bingham, C
Ellard, S
van't Hoff, WG
Simmonds, HA
Marinaki, AM
Badman, MK
Winocour, PH
Stride, A
Lockwood, CR
Nicholls, AJ
Owen, KR
Spyer, G
Pearson, ER
Hattersley, AT
[J]. KIDNEY INTERNATIONAL, 2003, 63 (05) : 1645 - 1651
[5] Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease
Bingham, C
Bulman, MP
Ellard, S
Allen, LIS
Lipkin, GW
van't Hoff, WG
Woolf, AS
Rizzoni, G
Novelli, G
Nicholls, AJ
Hattersley, AT
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) : 219 - 224
[6] Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β
Bingham, C
Ellard, S
Allen, L
Bulman, M
Shepherd, M
Frayling, T
Berry, PJ
Clark, PM
Lindner, T
Bell, GI
Ryffel, GU
Nicholls, AJ
Hattersley, AT
[J]. KIDNEY INTERNATIONAL, 2000, 57 (03) : 898 - 907
[7] Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1β mutations
Bingham, C
Ellard, S
Cole, TRP
Jones, KE
Allen, LIS
Goodship, JA
Goodship, THJ
Bakalinova-Pugh, D
Russell, GI
Woolf, AS
Nicholls, AJ
Hattersley, AT
[J]. KIDNEY INTERNATIONAL, 2002, 61 (04) : 1243 - 1251
[8] Distinct molecular and morphogenetic properties of mutations in the human HNF1β gene that lead to defective kidney development
Bohn, S
Thomas, H
Turan, G
Ellard, S
Bingham, C
Hattersley, AT
Ryffel, GU
[J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2003, 14 (08): : 2033 - 2041
[9] Carbone I, 2002, DIABETOLOGIA, V45, P153
[10] CEREGHINI S, 1992, DEVELOPMENT, V116, P783

← 1 2 3 4 →