Search Results - "Reeders, Stephen T."
-
1
Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome
Published in Nature genetics (01-09-1994)Get full text
Journal Article -
2
The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease
Published in The New England journal of medicine (18-10-1990)“…AUTOSOMAL dominant polycystic kidney disease is responsible for 6 to 9 percent of cases of end-stage renal disease in North America 1 ' 2 and Europe. 3 About 1…”
Get full text
Journal Article -
3
Polycystin-L is a calcium-regulated cation channel permeable to calcium ions
Published in Nature (London) (23-09-1999)“…Polycystic kidney diseases are genetic disorders in which the renal parenchyma is progressively replaced by fluid-filled cysts. Two members of the polycystin…”
Get full text
Journal Article -
4
Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects
Published in The Journal of biological chemistry (02-10-1998)“…Polycystin-1 and polycystin-2 are the products of PKD1 and PKD2, genes that are mutated in most cases of autosomal dominant polycystic kidney disease…”
Get full text
Journal Article -
5
Deletion of the Paired α5(IV) and α6(IV) Collagen Genes in Inherited Smooth Muscle Tumors
Published in Science (American Association for the Advancement of Science) (27-08-1993)“…The gene encoding α6(IV) collagen, COL4A6, was identified on the human X chromosome in a head-to-head arrangement and within 452 base pairs of the α5(IV)…”
Get full text
Journal Article -
6
Multilocus polycystic disease
Published in Nature genetics (01-07-1992)Get full text
Journal Article -
7
Molecular characteristics of the Goodpasture autoantigen
Published in Kidney international (01-01-1993)“…Molecular characteristics of the Goodpasture autoantigen. Goodpasture syndrome is an autoimmune disease causing rapidly progressive glomerulonephritis and…”
Get full text
Journal Article Conference Proceeding -
8
Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis
Published in The Journal of biological chemistry (15-12-1993)“…Basement membranes (BMs) are thin sheetlike extracellular structures that compartmentalize tissues. They provide substrata for organ cells and important…”
Get full text
Journal Article -
9
Identification and localization of polycystin, the PKD1 gene product
Published in The Journal of clinical investigation (15-12-1996)“…Polycystin, the product of autosomal dominant polycystic kidney disease (ADPKD) 1 gene (PKD1) is the cardinal member of a novel class of proteins. As a first…”
Get full text
Journal Article -
10
-
11
Distribution and developmentally regulated expression of murine polycystin
Published in The American journal of physiology (01-04-1997)“…PKD1, the gene that is mutated in approximately 85% of autosomal dominant polycystic kidney disease (ADPKD) cases in humans, has recently been identified (Eur…”
Get full text
Journal Article -
12
Sequence and localization of a partial cDNA encoding the human α3 chain of type IV collagen
Published in American journal of human genetics (1991)Get full text
Journal Article -
13
The alpha chains of type IV collagen
Published in Contributions to nephrology (1996)Get more information
Journal Article -
14
-
15
Use of the polymerase chain reaction to clone and sequence a cDNA encoding the bovine α3 chain of type IV collagen
Published in The Journal of biological chemistry (05-01-1991)Get full text
Journal Article -
16
A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast
Published in Genomics (San Diego, Calif.) (10-10-1995)“…A new human gene has been identified on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1) by analysis of a genomic cosmid…”
Get full text
Journal Article -
17
Molecular genetics of hereditary nephritis
Published in Kidney international (01-09-1992)Get full text
Journal Article Conference Proceeding -
18
Specificity of Goodpasture autoantibodies for the recombinant noncollagenous domains of human type IV collagen
Published in The Journal of biological chemistry (25-04-1993)“…Type IV collagen has recently emerged as a family composed of five known chains (alpha 1-alpha 5), each of which contains a carboxyl-terminal noncollagenous…”
Get full text
Journal Article -
19
A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease
Published in Journal of the American Society of Nephrology (01-12-1993)“…Autosomal dominant polycystic kidney disease (ADPKD) is a disorder of adult onset manifested by bilaterally enlarged cystic kidneys frequently associated with…”
Get full text
Journal Article -
20
Structure of the Human Type IV CollagenCOL4A6Gene, Which Is Mutated in Alport Syndrome-Associated Leiomyomatosis
Published in Genomics (San Diego, Calif.) (01-05-1996)“…Basement membrane (type IV) collagen, a subfamily of the collagen protein family, is encoded by six distinct genes in mammals. Three of those,COL4A3,…”
Get full text
Journal Article