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Scholar Results 1 - 10 of about 19 citing Ræder: A Hepatocyte Nuclear Factor-4α Gene (HNF4A) P2 Promoter Haplotype Linked With Late-Onset.... (0.12 sec) 

Monogenic diabetes in children and young adults: Challenges for researcher, …

- nih.gov
AS Slingerland - Reviews in Endocrine & Metabolic Disorders, 2006 - Springer
Abstract Monogenic diabetes results from one or more mutations in a single gene which might
hence be rare but has great impact leading to diabetes at a very young age. It has resulted in
great challenges for researchers elucidating the aetiology of diabetes and related ...
Cited by 12 - Related articles - BL Direct - All 6 versions

Best practice guidelines for the molecular genetic diagnosis of maturity-onset …

- nih.gov
S Ellard, C Bellanne-Chantelot, AT Hattersley - Diabetologia, 2008 - Springer
Abstract Aims/hypothesis Mutations in the GCK and HNF1A genes are the most common cause
of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes
the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations ...
Cited by 17 - Related articles - BL Direct - All 11 versions

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

- diabetesjournals.org
J Ek, SP Hansen, M Lajer, C Nicot, TW Boesgaard, S … - 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 with type 2 diabetes. In this study, we ...
Cited by 12 - Related articles - BL Direct - All 6 versions

P2 Promoter variants of the hepatocyte nuclear factor 4α gene are associated with …


DM Lehman, DK Richardson, CP Jenkinson, KJ Hunt, … - Diabetes, 2007 - Am Diabetes Assoc
Common and rare variants of the hepatocyte nuclear factor 4α (HNF4A) gene have been associated
with type 2 diabetes and related traits in several populations suggesting the involvement of this
transcription factor in diabetes pathogenesis. Single nucleotide polymorphisms (SNPs) ...
Cited by 12 - Related articles - BL Direct - All 5 versions

The diabetic phenotype in HNF4A mutation carriers is moderated by the …

- diabetesjournals.org
LW Harries, JM Locke, B Shields, NA Hanley, KP … - Diabetes, 2008 - Am Diabetes Assoc
RESULTS—HNF4A was expressed exclusively from the P2 promoter in adult pancreas, but from
9 weeks until at least 26 weeks after conception, up to 23% of expression in fetal pancreas was
of P1 origin. HNF4A4–6 transcripts were not detected in any tissue. In whole pancreas, ...
Cited by 9 - Related articles - All 6 versions

HNF4A genetic variants: role in diabetes


L Love-Gregory, MA Permutt - Current Opinion in Clinical Nutrition & …, 2007 - journals.lww.com
Purpose of review: Variants in the hepatocyte nuclear factor 4α (HNF4A) gene play a role in the
development of diabetes mellitus. Although genetic variation in and around HNF4A regulatory
regions has received considerable attention, the significance of these variants in the ...
Cited by 6 - Related articles - BL Direct - All 5 versions

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry


JV Sagen, L Bjorkhaug, J Molnes, H Ræder, L … - Pediatr …, 2008 - interscience.wiley.com
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Cited by 4 - Related articles - All 3 versions

Alternate mRNA processing of the hepatocyte nuclear factor genes and its role in …


LW Harries - Expert Review of Endocrinology and Metabolism, 2006 - ingentaconnect.com
Variation in mRNA processing has the capacity to exert fine control over gene expression in
most cell types. The hepatic nuclear factor genes, like approximately 74% of the genome, produce
multiple transcripts. Hepatic nuclear factor isoforms exhibit both spatial and temporal ...
Cited by 3 - Related articles - All 3 versions

Insights on pathogenesis of type 2 diabetes from MODY genetics


MN Weedon, TM Frayling - Current Diabetes Reports, 2007 - Springer
Introduction Maturity-onset diabetes of the young (MODY) is a type of non–insulin-dependent
diabetes mellitus caused by rare autosomal-dominant mutations, accounting for 1% to 2% of
diabetes cases. Patients with MODY usually pres- ent before the age of 25 and often have ...
Cited by 2 - Related articles - BL Direct - All 2 versions

Studies in 3,523 Norwegians and Meta-Analysis in 11,571 Subjects Indicate That …


S Johansson, H Ræder, SÅ Eide, K Midthjell, K Hveem, … - Diabetes, 2007 - Am Diabetes Assoc
OBJECTIVE— Recent publications have found an association between common variants near
the hepatocyte nuclear factor 4α (HNF4A) P2 promoter and type 2 diabetes in some populations
but not in others, and the role for HNF4A in type 2 diabetes has remained unclear. In an ...
Cited by 2 - Related articles - BL Direct - All 3 versions


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