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Scholar Results 1 - 10 of about 101 related to Bellanne-Chantelot: Clinical spectrum associated with hepatocyte nuclear factor-1 {beta} mutations. (0.10 sec) 

Clinical spectrum associated with hepatocyte nuclear factor-1 {beta} mutations

- annals.org [PDF] 
C Bellanne-Chantelot, D Chauveau, JF Gautier, … - Annals of internal medicine, 2004 - Am Coll Physicians
Setting: 2 departments of diabetes, 1 department of internal medicine, and 1
department of nephrology. Participants: 8 probands with diabetes diagnosed
before 40 years of age and nondiabetic kidney disease who were selected ...
Cited by 103 - Related articles - BL Direct - All 5 versions

Mutations in hepatocyte nuclear factor-1 {beta} and their related phenotypes

- nih.gov
EL Edghill, C Bingham, S Ellard, AT … - British Medical Journal, 2006 - jmg.bmj.com
Results: Twenty three different heterozygous HNF-1ß mutations were identified
in 23/160 subjects (14%), including 10 novel mutations (V61G, V110G, S148L,
K156E, Q176X, R276Q, S281fsinsC, R295P, H324fsdelCA, Q470X). Seven (30%) ...
Cited by 77 - Related articles - BL Direct - All 10 versions

Solitary functioning kidney and diverse genital tract malformations associated with …


C Bingham, S Ellard, TRP Cole, KE Jones, LIS … - Kidney international, 2002 - nature.com
Renal tract malformations are, on occasion, associated with uterine
malformations. The transcription factor hepatocyte nuclear factor (HNF)-1 is
expressed from the earliest stages of development of the Wolffian duct, the ...
Cited by 70 - Related articles - BL Direct - All 4 versions

Large genomic rearrangements in the hepatocyte nuclear factor-1β (TCF2) gene are the most …

- diabetesjournals.org
C Bellanné-Chantelot, S Clauin, D Chauveau, … - Diabetes, 2005 - Am Diabetes Assoc
Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in the TCF2
gene encoding the transcription factor hepatocyte nuclear factor-1β. However,
in 60% of the patients with a phenotype suggesting MODY5, no point mutation ...
Cited by 59 - Related articles - BL Direct - All 4 versions

Lack of TCF2/vHNF1 in mice leads to pancreas agenesis

- pnas.org
C Haumaitre, E Barbacci, M Jenny, MO Ott, G … - Proceedings of the National Academy of Sciences, 2005 - National Acad Sciences
Heterozygous mutations in the human POU-homeobox TCF2 (vHNF1, HNF1β) gene are
associated with maturity-onset diabetes of the young, type 5, and abnormal
urogenital tract development. Recently, pancreas atrophies have been ...
Cited by 58 - Related articles - All 9 versions

Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1α and-1β …

- Free from Publisher
ER Pearson, MK Badman, CR Lockwood, PM … - Diabetes Care, 2004 - Am Diabetes Assoc
OBJECTIVE—Mutations in the highly homologous transcription factors hepatocyte
nuclear factor (HNF)-1α and -1β cause maturity-onset diabetes of the young
types 3 and 5, respectively. Diabetes due to HNF-1α mutations is well ...
Cited by 33 - Related articles - BL Direct - All 6 versions

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

- oxfordjournals.org
C Bingham, AT Hattersley - Nephrology Dialysis Transplantation, 2004 - ERA-EDTA
Mutations in the gene encoding the transcription factor hepatocyte nuclear
factor (HNF)-1ß have recently been described in association with a variety of
abnormalities of renal development. The most consistent clinical feature is ...
Cited by 42 - Related articles - BL Direct - All 4 versions

Abnormal nephron development associated with a frameshift mutation in the transcription …


C Bingham, S Ellard, L Allen, M Bulman, M … - Kidney international, 2000 - nature.com
The transcription factor hepatocyte nuclear factor (HNF)-1 functions as a
homodimer or as a heterodimer with the structurally related protein HNF-1 . Both
are expressed sequentially in rat kidney development, with HNF-1 being ...
Cited by 111 - Related articles - BL Direct - All 4 versions

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric …

- asnjournals.org
T Ulinski, S Lescure, S Beaufils, V Guigonis … - Journal of the American Society of Nephrology, 2006 - Am Soc Nephrol
The hepatocyte nuclear factor-1 encoded by the TCF2 gene plays a role for the
specific regulation of gene expression in various tissues such as liver, kidney,
intestine, and pancreatic islets and is involved in the embryonic ...
Cited by 46 - Related articles - BL Direct - All 5 versions

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation …


TH Lindner, PR Njolstad, Y Horikawa, L Bostad … - Human Molecular Genetics, 1999 - Oxford Univ Press
Mutations in the homeodomain-containing transcription factor hepatocyte nuclear
factor (HNF)-1[beta] are the cause of one form of maturity-onset diabetes of the
young (MODY), type 5 (MODY5). We have studied a Norwegian family, N5, with ...
Cited by 155 - Related articles - BL Direct - All 8 versions


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