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Scholar Results 1 - 10 of about 20 citing Gloyn: Maturity-onset diabetes of the young caused by a balanced translocation where the.... (0.11 sec) 

Transcriptional networks controlling pancreatic development and beta cell function


JM Servitja, J Ferrer - Diabetologia, 2004 - Springer
Transcription factors provide the genetic instructions that drive pancreatic
development and enable mature beta cells to function properly. To understand
fully how this is accomplished, it is necessary to unravel the regulatory ...
Cited by 107 - 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

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear …


ER Pearson, S Pruhova, CJ Tack, A Johansen, … - Diabetologia, 2005 - Springer
Page 1. Diabetologia (2005) 48: 878–885 DOI 10.1007/s00125-005-1738-y ARTICLE ER
Pearson . S. Pruhova . CJ Tack . A. Johansen . HAJ Castleden . PJ Lumb . ...
Cited by 57 - Related articles - All 5 versions

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha …


S Ellard, K Colclough - Human mutation, 2006 - interscience.wiley.com
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes
mellitus characterized by autosomal dominant inheritance, early age of onset
(often <25 years of age), and pancreatic -cell dysfunction. MODY is both ...
Cited by 32 - Related articles - BL Direct - All 4 versions

Mapping translocation breakpoints by next-generation sequencing

- 171.66.122.45
W Chen, V Kalscheuer, A Tzschach, C Menzel, … - Genome research, 2008 - genome.cshlp.org
Balanced chromosome rearrangements (BCRs) can cause genetic diseases by
disrupting or inactivating specific genes, and the characterization of
breakpoints in disease-associated BCRs has been instrumental in the ...
Cited by 27 - Related articles - All 10 versions

A Hepatocyte Nuclear Factor-4α Gene (HNF4A) P2 Promoter Haplotype Linked With Late- …


H Ræder, L Bjørkhaug, S Johansson, K … - Diabetes, 2006 - Am Diabetes Assoc
Variants in hepatocyte nuclear factor (HNF)-4α cause maturity-onset diabetes of
the young, type 1 (MODY1) and may also be risk factors for type 2 diabetes. We
sequenced the HNF4A gene of 95 MODY3-negative probands from the Norwegian ...
Cited by 19 - Related articles - BL Direct - All 4 versions

A Novel− 192c/g Mutation in the Proximal P2 Promoter of the Hepatocyte Nuclear Factor- …

- diabetesjournals.org
J Ek, SP Hansen, M Lajer, C Nicot, TW … - Diabetes, 2006 - Am Diabetes Assoc
Recently, it has been shown that mutations in the P2 promoter of the hepatocyte
nuclear factor (HNF)-4α gene (HNF4A) cause maturity-onset diabetes of the young
(MODY), while single nucleotide polymorphisms in this locus are associated ...
Cited by 12 - Related articles - BL Direct - All 6 versions

The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t (3; 9) in a family with type 2 …


J Kamimura, K Wakui, H Kadowaki, Y Watanabe … - Journal of Human Genetics, 2004 - Springer
Abstract Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders
due to either defective insulin secretion or action. Despite the fact that
numerous genetic researches of T2DM have been pursued, the pathogenic ...
Cited by 9 - Related articles - BL Direct - All 6 versions

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to …


I Bache, M Hjorth, M Bugge, S Holstebroe, J … - European Journal of Human Genetics, 2006 - nature.com
Balanced reciprocal translocations associated with genetic disorders have
facilitated the identification of a variety of genes for early-onset monogenic
disorders, but only rarely the genes associated with common and complex ...
Cited by 9 - Related articles - BL Direct - All 4 versions

Adolescent onset Type 2 diabetes in a non-obese Caucasian patient with an unbalanced …


KR Owen, J Roland, K Smith, AT Hattersley - Diabetic Medicine, 2003 - interscience.wiley.com
Case reportWe describe a novel unbalanced translocation between Xq and 10p
associated with amenorrhoea and onset of Type 2 diabetes in a non-obese
Caucasian adolescent. There was no evidence of an autoimmune or known ...
Cited by 6 - Related articles - BL Direct - All 4 versions


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