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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.
2018
2018
Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant?
  • J. Savige
  • Kidney international reports
  • 2018
    • Corpus ID: 53565561
S everal recent studies have reported a single pathogenic COL4A3 or COL4A4 mutation in up to 30% of individuals undergoing… Expand
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
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
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
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
1995
1995
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.
Autosomal recessive Alport syndrome can arise from a mutation in either of the genes COL4A3 and COL4A4 on chromosome 2, which… Expand
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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