Varaico: Literature-Extracted Genetic Variants

Gene:ISL1
Variant:p.Q310*
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ISL1

NM_002202.3:p.Q310*

Associated Papers

CRISPR Screening Uncovers a Long-Range Enhancer for ONECUT1 in Pancreatic Differentiation and Links a Diabetes Risk Variant.

Kaplan SJ et al.

Biorxiv : the Preprint Server for Biology, 2024

Association of ISL1 polymorphisms and eosinophilic levels among otitis media patients.

Kondyarpu A et al.

Journal of Clinical Laboratory Analysis, 2021

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

Draaken M et al.

Plos Genetics, 2015

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.

Friedrich FW et al.

European Journal of Heart Failure, 2013

The role of homeodomain transcription factors in heritable pituitary disease.

Prince KL et al.

Nature Reviews. Endocrinology, 2011

Alx3-deficient mice exhibit decreased insulin in beta cells, altered glucose homeostasis and increased apoptosis in pancreatic islets.

Mirasierra M et al.

Diabetologia, 2011

The LIM-homeodomain protein ISL1 activates insulin gene promoter directly through synergy with BETA2.

Zhang H et al.

Journal of Molecular Biology, 2009

The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter.

Granger A et al.

Molecular Endocrinology (baltimore, Md.), 2006

Genetics of type 2 diabetes mellitus: status and perspectives.

Hansen L et al.

Diabetes, Obesity & Metabolism, 2005

Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families.

Holm P et al.

Diabetes, 2004

Newly defined genetic diabetes syndromes: maturity onset diabetes of the young.

Winter WE

Reviews in Endocrine & Metabolic Disorders, 2003

Positional candidate gene analysis of Lim domain homeobox gene (Isl-1) on chromosome 5q11-q13 in a French morbidly obese population suggests indication for association with type 2 diabetes.

Barat-Houari M et al.

Diabetes, 2002

Diabetes mellitus and genetically programmed defects in beta-cell function.

Bell GI et al.

Nature, 2001

Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history.

Shimomura H et al.

Diabetes, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."