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Selection on cis-regulatory variation at B4galnt2 and its influence on von Willebrand factor in house mice

Molecular Biology and Evolution

Dec 18, 2008

Jill M JohnsenJohn F Baines

Abstract

The RIIIS/J inbred mouse strain is a model for type 1 von Willebrand disease (VWD), a common human bleeding disorder. Low von Willebrand factor (VWF) levels in RIIIS/J are due to a regulatory mutation, Mvwf1, which directs a tissue-specific switch in expression of a glycosyltransferase,...read more

Mentioned in this Paper

Short Tandem Repeat
5' Flanking Region
B4GALNT2 gene
Blood Vessel
House mice
N-Acetylgalactosaminyltransferases
Plasma Factor VIII Complex
Blood Coagulation Disorders
Equilibrium
Intestinal Wall Tissue
Paper Details
References
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  • Citations10
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  • References49
  • Citations10
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Selection on cis-regulatory variation at B4galnt2 and its influence on von Willebrand factor in house mice

Molecular Biology and Evolution

Dec 18, 2008

Jill M JohnsenJohn F Baines

PMID: 19088380

DOI: 10.1093/molbev/msn284

Abstract

The RIIIS/J inbred mouse strain is a model for type 1 von Willebrand disease (VWD), a common human bleeding disorder. Low von Willebrand factor (VWF) levels in RIIIS/J are due to a regulatory mutation, Mvwf1, which directs a tissue-specific switch in expression of a glycosyltransferase,...read more

Mentioned in this Paper

Short Tandem Repeat
5' Flanking Region
B4GALNT2 gene
Blood Vessel
House mice
N-Acetylgalactosaminyltransferases
Plasma Factor VIII Complex
Blood Coagulation Disorders
Equilibrium
Intestinal Wall Tissue

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Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.

Enhancers in Development & Diseases (Keystone)

Enhancers are short regions of the DNA which can be bound by activator or repressor proteins to affect transcription of a particular gene. This feed covers the latest research on enhancer function in development and disease.

Related Papers

Mammalian Genome : Official Journal of the International Mammalian Genome Society

The endothelial-specific regulatory mutation, Mvwf1, is a common mouse founder allele

Mammalian Genome : Official Journal of the International Mammalian Genome SocietyJanuary 12, 2008
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Long-term balancing selection at the blood group-related gene B4galnt2 in the genus Mus (Rodentia; Muridae)

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Paper Details
References
  • References49
  • Citations10
12345
  • References49
  • Citations10
1

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