Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease

American Journal of Human Genetics

Volumn 68, Issue 1, 2001, Pages 219-224

  Bingham, Coralie ^a   Bulman, Michael P ^a   Ellard, Shinji ^a   Allen, Lisa I S ^a   Lipkin, Graham W ^b   Van't Hoff, William G ^c   Woolf, Adrian S ^c   Rizzoni, Gianfranco ^d   Novelli, Giuseppe ^d   Nicholls, Anthony J ^a   Hattersley, Andrew T ^a  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR I;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; FAMILIAL DISEASE; FAMILIAL HYPOPLASTIC GLOMERULOCYSTIC KIDNEY DISEASE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC HETEROGENEITY; GLUCOSE TOLERANCE; HUMAN; JUVENILE DIABETES MELLITUS; KIDNEY POLYCYSTIC DISEASE; KIDNEY SIZE; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL;

EID: 0035166810     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316945     Document Type: Article

References (20)

1. Short-term urinary flow impairment deregulates PAX2 and PCNA expression and cell survival in fetal sheep kidneys
2. Mutations in hepatocyte nuclear factor 1b are not a common cause of maturity-onset diabetes of the young in the U.K
3. Glomerulocystic kidney disease - Nosological considerations
4. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1b
5. Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: Clinical, radiological and histopathological features of a new kindred
6. Mutations in the hepatocyte nuclear factor 1a gene are a common cause of maturity-onset diabetes of the young in the United Kingdom
7. Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity
8. Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY
9. Familial hypoplastic glomerulocystic kidney disease: A definite entity with dominant inheritance
10. LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development
11. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β
12. Cortical microcystic disease of the kidney with dominant inheritance: A previously undescribed syndrome
13. HNF-1α and HNF-1β (vHNF-1) share dimerisation and homeo domains, but not activation domains, and form heterodimers in vitro
14. Linkage analysis excludes familial hypoplastic glomerulocystic kidney disease from chromosome 4 and 16
15. Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1b gene associated with diabetes and renal dysfunction
16. vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1
17. Familial hypoplastic glomerulocystic kidney. A new entity?
18. Dominantly transmitted glomerulocystic kidney disease: A distinct genetic entity
19. Hepatocyte nuclear factor-1β (MODY 5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both
20. The mutated human gene encoding hepatocyte nuclear factor 1b inhibits kidney formation in developing Xenopus embryos