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Scholar Results 1 - 10 of about 37 citing Klupa: Determinants of the Development of Diabetes (Maturity-Onset Diabetes of the Young-3).... (0.10 sec) 

Activating mutations in Kir6. 2 and neonatal diabetes


AT Hattersley, FM Ashcroft - Diabetes, 2005 - Am Diabetes Assoc
Closure of ATP-sensitive K + channels (K ATP channels) in response to
metabolically generated ATP or binding of sulfonylurea drugs stimulates insulin
release from pancreatic β-cells. Heterozygous gain-of-function mutations ...
Cited by 138 - Related articles - BL Direct - All 10 versions

Relapsing diabetes can result from moderately activating mutations in KCNJ11

- oxfordjournals.org
AL Gloyn, F Reimann, C Girard, EL Edghill, P … - Human molecular genetics, 2005 - Oxford Univ Press
Neonatal diabetes can either remit and hence be transient or else may be
permanent. These two phenotypes were considered to be genetically distinct.
Abnormalities of 6q24 are the commonest cause of transient neonatal ...
Cited by 88 - Related articles - All 7 versions

[PDF] A genome-wide linkage scan for genes controlling variation in urinary albumin excretion in …


JD Center, AS Krolewski… - Kidney international, 2006 - mhp.koshigaya.saitama.jp
Nominal P-values foe evidence for linkage in all relatives on 22 q, 5q and 7q
were lower than empirical, indicating that the nominal P-values may have
slightly overstated the evidence for linkage to these regions. In contrast, ...
Cited by 42 - Related articles - BL Direct - All 4 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

A genome-wide linkage scan for genes controlling variation in renal function estimated by …

- shouxi.net
G Placha, GD Poznik, J Dunn, A Smiles, B … - Diabetes, 2006 - Am Diabetes Assoc
We performed a variance components linkage analysis of renal function, measured
as glomerular filtration rate (GFR), in 63 extended families with multiple
members with type 2 diabetes. GFR was estimated from serum concentrations ...
Cited by 29 - Related articles - BL Direct - All 5 versions

Molecular genetic approaches for studying the etiology of diabetic nephropathy


DPK Ng, AS Krolewski - Current Molecular Medicine, 2005 - ingentaconnect.com
1 Department of Community, Occupational and Family Medicine, and Centre for
Molecular Epidemiology, National University of Singapore 2 Joslin Diabetes
Center, and Department of Medicine, Harvard Medical School, Boston, MA, USA ...
Cited by 22 - Related articles - BL Direct - All 3 versions

Identification of a locus for maturity-onset diabetes of the young on chromosome 8p23


SH Kim, X Ma, S Weremowicz, T Ercolino, C … - Diabetes, 2004 - Am Diabetes Assoc
Maturity-onset diabetes of the young (MODY) is a subtype of diabetes defined by
an autosomal dominant inheritance and a young onset. Six MODY genes have been
discovered to date. To identify additional MODY loci, we conducted a genome ...
Cited by 19 - Related articles - BL Direct - All 5 versions

Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential …

- oxfordjournals.org
LW Harries, S Ellard, A Stride… - Human Molecular Genetics, 2006 - Oxford Univ Press
The generation of multiple transcripts by mRNA processing has the potential to
moderate differences in gene expression both between tissues and at different
stages of development. Where gene function is compromised by mutation, the ...
Cited by 20 - Related articles - BL Direct - All 6 versions

Social psychiatry and the human genome: contextualising heritability


L Eisenberg - The British Journal of Psychiatry, 2004 - RCP
April 2003 marked the 50th anniversary of one of the great intellectual
achievements of 20th century biological science: deciphering of the DNA code by
Jim Watson and Francis Crick (Watson & Crick, 1953). It is also the month ...
Cited by 17 - Related articles - BL Direct - All 5 versions

Examination of candidate chromosomal regions for type 2 diabetes reveals a …


MG Pezzolesi, M Nam, T Nagase, T Klupa, JS … - Diabetes, 2004 - Am Diabetes Assoc
In a panel of large Caucasian pedigrees, we genotyped markers in eight
chromosomal regions previously reported as supporting linkage with type 2
diabetes. We previously reported significant linkage on chromosome 20q ...
Cited by 15 - Related articles - BL Direct - All 4 versions


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