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COL4A3 wt Allele

Known as: Collagen, Type IV, Alpha 3 (Goodpasture Antigen) wt Allele, Collagen IV, Alpha-3 Polypeptide Gene, COL4A3 
Human COL4A3 wild-type allele is located within 2q36-q37 and is approximately 150 kb in length. This allele, which encodes collagen alpha-3 (IV… Expand
National Institutes of Health

Related topics

Related topics

13 relations
2q36-q37Alport SyndromeAnti-Glomerular Basement Membrane DiseaseCOL4A3BP gene
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Broader (1)

COL4A3 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.
Alport syndrome is an inherited progressive nephropathy arising from mutations in the type IV collagen genes, COL4A3, COL4A4, and… Expand
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2014
2014
Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease
BackgroundCollagen IV-related nephropathies, including thin basement membrane nephropathy and Alport Syndrome (AS), are caused by… Expand
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Highly Cited
2013
Highly Cited
2013
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular… Expand
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2013
2013
COL4A3 expression correlates with pathogenesis, pathologic behaviors, and prognosis of gastric carcinomas.
COL4A3 protein belongs to type IV collagen family and is closely linked to kidney diseases and cancer. To clarify the roles of… Expand
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2011
2011
The value of clinical criteria in identifying patients with X-linked Alport syndrome.
BACKGROUND AND OBJECTIVES Alport syndrome (AS) is a predominantly X-linked hereditary nephritis associated with high-tone… Expand
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Highly Cited
2009
Highly Cited
2009
Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and…
BACKGROUND Heterozygous mutations in the COL4A3/ COL4A4 genes are currently thought to be responsible for familial benign… Expand
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2006
2006
Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy.
A heterozygous mutation in autosomal Alport genes COL4A3 and COL4A4 can be found in 20 to 50% of individuals with familial benign… Expand
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Highly Cited
2004
Highly Cited
2004
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.
BACKGROUND Alport syndrome is a clinically and genetically heterogeneous nephropathy. The majority of cases are transmitted as an… Expand
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Highly Cited
1995
Highly Cited
1995
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.
Alport syndrome is a mainly X-linked hereditary disease of basement membranes characterized by progressive renal failure… Expand
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Highly Cited
1989
Highly Cited
1989
Thin-basement-membrane nephropathy.
Thin basement membrane nephropathy. Thin basement membrane nephropathy (TBMN) is the most common cause of persistent glomerular… Expand
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