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COL4A4 gene

Known as: COLLAGEN OF BASEMENT MEMBRANE, ALPHA-4 CHAIN, CA44, COLLAGEN, TYPE IV, ALPHA-4 
National Institutes of Health

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Related topics

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COL4A1 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome.
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… 
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… 
Highly Cited
2009
Highly Cited
2009
Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus
Purpose Alterations in collagen type IV, alpha-3 (COL4A3) and collagen type IV, alpha-4 (COL4A4) genes may be responsible for a… 
Highly Cited
2007
Highly Cited
2007
The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes.
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… 
Highly Cited
2003
Highly Cited
2003
Mutations in the COL4A4 gene in thin basement membrane disease.
BACKGROUND Patients with thin basement membrane disease (TBMD) are often from families where hematuria segregates with the COL4A3… 
Highly Cited
2001
Highly Cited
2001
COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.
BACKGROUND Carriers of autosomal-recessive and X-linked Alport syndrome often have a thinned glomerular basement membrane (GBM… 
Highly Cited
1999
Highly Cited
1999
Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome.
Mice homozygous for the transgenic insertion in line OVE250 exhibit severe progressive glomerulonephritis. Ultrastructural… 
1997
1997
IgE from latex-allergic patients binds to cloned and expressed B cell epitopes of prohevein.
Prohevein is one of the major allergens associated with latex allergy. In the present study, we identified IgE binding regions of… 
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