COL4A4 gene

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

Papers overview

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2014
2014
Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with… (More)
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Highly Cited
2013
Highly Cited
2013
BACKGROUND AND OBJECTIVES Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a… (More)
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2009
2009
PURPOSE Alterations in collagen type IV, alpha-3 (COL4A3) and collagen type IV, alpha-4 (COL4A4) genes may be responsible for a… (More)
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Highly Cited
2009
Highly Cited
2009
BACKGROUND Heterozygous mutations in the COL4A3/ COL4A4 genes are currently thought to be responsible for familial benign… (More)
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2005
2005
This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in… (More)
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2004
2004
BACKGROUND Alport syndrome is a clinically and genetically heterogeneous nephropathy. The majority of cases are transmitted as an… (More)
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2003
2003
BACKGROUND Patients with thin basement membrane disease (TBMD) are often from families where hematuria segregates with the COL4A3… (More)
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Highly Cited
2002
Highly Cited
2002
UNLABELLED COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome. BACKGROUND… (More)
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1999
1999
Mice homozygous for the transgenic insertion in line OVE250 exhibit severe progressive glomerulonephritis. Ultrastructural… (More)
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1997
1997
BACKGROUND Alport syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in young adult life and is… (More)
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