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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
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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…
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National Institutes of Health
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Related topics
Related topics
13 relations
2q36-q37
Alport Syndrome
Anti-Glomerular Basement Membrane Disease
COL4A3BP 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
Review
2017
Review
2017
Alport syndrome: impact of digenic inheritance in patients management
C. Fallerini
,
M. Baldassarri
,
+13 authors
F. Ariani
Clinical Genetics
2017
Corpus ID: 3940005
Alport syndrome (ATS) is a genetically heterogeneous nephropathy with considerable phenotypic variability and different…
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Highly Cited
2013
Highly Cited
2013
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
H. Storey
,
J. Savige
,
V. Sivakumar
,
S. Abbs
,
F. Flinter
Journal of the American Society of Nephrology
2013
Corpus ID: 6450211
Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular…
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2013
2013
COL4A3 expression correlates with pathogenesis, pathologic behaviors, and prognosis of gastric carcinomas.
Xiao-cui Nie
,
Jian-ping Wang
,
+6 authors
Hua-Chuan Zheng
Human Pathology
2013
Corpus ID: 36110853
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…
A. Pierides
,
K. Voskarides
,
+11 authors
C. Deltas
Nephrology, Dialysis and Transplantation
2009
Corpus ID: 41505162
BACKGROUND Heterozygous mutations in the COL4A3/ COL4A4 genes are currently thought to be responsible for familial benign…
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2006
2006
Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy.
B. Beirowski
,
Manfred Weber
,
O. Gross
Journal of the American Society of Nephrology
2006
Corpus ID: 22826020
A heterozygous mutation in autosomal Alport genes COL4A3 and COL4A4 can be found in 20 to 50% of individuals with familial benign…
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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.
C. Pescucci
,
F. Mari
,
+9 authors
A. Renieri
Kidney International
2004
Corpus ID: 8377630
BACKGROUND Alport syndrome is a clinically and genetically heterogeneous nephropathy. The majority of cases are transmitted as an…
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Highly Cited
2003
Highly Cited
2003
Thin-basement-membrane nephropathy.
J. Savige
,
Kesha Rana
,
S. Tonna
,
M. Buzza
,
H. Dagher
,
Yan Yan Wang
New England Journal of Medicine
2003
Corpus ID: 1961110
Thin basement membrane nephropathy. Thin basement membrane nephropathy (TBMN) is the most common cause of persistent glomerular…
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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.
B. Knebelmann
,
L. Forestier
,
+5 authors
C. Antignac
Human Molecular Genetics
1995
Corpus ID: 9282241
Alport syndrome is a mainly X-linked hereditary disease of basement membranes characterized by progressive renal failure…
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Highly Cited
1995
Highly Cited
1995
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.
J. Ding
,
J. Stitzel
,
P. Berry
,
E. Hawkins
,
C. Kashtan
Journal of the American Society of Nephrology
1995
Corpus ID: 10092908
Autosomal recessive Alport syndrome can arise from a mutation in either of the genes COL4A3 and COL4A4 on chromosome 2, which…
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