Search Results - "Reeders, S T"

Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis by Hudson, B G, Reeders, S T, Tryggvason, K

“…Basement membranes (BMs) are thin sheetlike extracellular structures that compartmentalize tissues. They provide substrata for organ cells and important…”
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Improved telomere detection using a telomere repeat probe (TTAGGG)n generated by PCR by IJDO, J. W, WELLS, R. A, BALDINI, A, REEDERS, S. T

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Origin of Human Chromosome 2: An Ancestral Telomere-Telomere Fusion by Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., Wells, R. A.

“…We have identified two allelic genomic cosmids from human chromosome 2, c8.1 and c29B, each containing two inverted arrays of the vertebrate telomeric repeat…”
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Polycystin-L is a calcium-regulated cation channel permeable to calcium ions by Hediger, Matthias A, Zhou, Jing, Chen, Xing-Zhen, Vassilev, Peter M, Basora, Nuria, Peng, Ji-Bin, Nomura, Hideki, Segal, Yoav, Brown, Edward M, Reeders, Stephen T

“…Polycystic kidney diseases are genetic disorders in which the renal parenchyma is progressively replaced by fluid-filled cysts. Two members of the polycystin…”
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Distribution and developmentally regulated expression of murine polycystin by Geng, L, Segal, Y, Pavlova, A, Barros, E J, Löhning, C, Lu, W, Nigam, S K, Frischauf, A M, Reeders, S T, Zhou, J

“…PKD1, the gene that is mutated in approximately 85% of autosomal dominant polycystic kidney disease (ADPKD) cases in humans, has recently been identified (Eur…”
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Identification and localization of polycystin, the PKD1 gene product by Geng, L, Segal, Y, Peissel, B, Deng, N, Pei, Y, Carone, F, Rennke, H G, Glücksmann-Kuis, A M, Schneider, M C, Ericsson, M, Reeders, S T, Zhou, J

“…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…”
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A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 by Reeders, S. T, Breuning, M. H, Davies, K. E, Nicholls, R. D, Jarman, A. P, Higgs, D. R, Pearson, P. L, Weatherall, D. J

“…Adult polycystic kidney disease (APCKD) is a common and often lethal multi-organ disease with an autosomal dominant pattern of inheritance; approximately 1 in…”
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Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains by Leinonen, A, Mariyama, M, Mochizuki, T, Tryggvason, K, Reeders, S T

“…The entire sequence of the human alpha 4(IV) collagen chain was determined from cDNA clones and polymerase chain reaction-amplified DNAs. The complete…”
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Molecular genetics of hereditary nephritis by Reeders, Stephen T.

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Specificity of Goodpasture autoantibodies for the recombinant noncollagenous domains of human type IV collagen by NEILSON, E. G, KALLURI, R, SUN, M. J, SRIPAD GUNWAR, DANOFF, T, MARIYAMA, M, MYERS, J. C, REEDERS, S. T, HUDSON, B. G

“…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…”
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Complete primary structure of the human alpha 3(IV) collagen chain. Coexpression of the alpha 3(IV) and alpha 4(IV) collagen chains in human tissues by Mariyama, M, Leinonen, A, Mochizuki, T, Tryggvason, K, Reeders, S T

“…We report the entire primary structure of the human alpha 3(IV) collagen chain determined from cDNA clones and polymerase chain reaction-amplified DNAs. The…”
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Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. I, Cases due to deletions involving chromosome band 16p13.3 by WILKIE, A. O. M, BUCKLE, V. J, TOLMIE, J. L, WEATHERALL, D. J, HIGGS, D. R, HARRIS, P. C, BARTON, N. J, REEDERS, S. T, LINDENBAUM, R. H, NICHOLLS, R. D, BARROW, M, BETHLENFALVAY, N. C, HUTZ, M. H

“…We describe eight patients who have alpha thalassemia which cannot be accounted for by the Mendelian inheritance of abnormal alpha globin genes. Apart from the…”
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Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1) by SNAREY, A, THOMAS, S, FRISCHAUF, A.-M, SCHNEIDER, M. C, POUND, S. E, BARTON, N, WRIGHT, A. F, SOMLO, S, GERMINO, G. G, HARRIS, P. C, REEDERS, S. T

“…The gene for autosomal dominant polycystic kidney disease (PKD1) is located on chromosome 16p, between the flanking markers D16S84 and D16S125 (26.6prox). This…”
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Sera from patients with anti-GBM nephritis including Goodpasture syndrome show heterogenous reactivity to recombinant NC1 domain of type IV collagen α chains by DEHAN, P, WEBER, M, ZHANG, X, REEDERS, S. T, FOIDART, J.-M, TRYGGVASON, K

“…Goodpasture (GP) syndrome is defined by the clinical association of pulmonary haemorrhage with rapidly progressive glomerulonephritis. The disease is caused by…”
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Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene by Schrick, J J, Onuchic, L F, Reeders, S T, Korenberg, J, Chen, X N, Moyer, J H, Wilkinson, J E, Woychik, R P

“…We previously identified a gene from the mutant locus in a new mouse mutation that causes recessive polycystic kidney disease. Here we describe the cloning,…”
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Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16 by GERMINO, G. G, BARTON, N. J, LAMB, J, HIGGS, D. R, HARRIS, P, XIAO, G. H, SCHERER, G, NAKAMURA, Y, REEDERS, S. T

“…The major site for mutations leading to autosomal dominant polycystic kidney disease (ADPKD) is at the PKD1 locus, previously mapped to 16p13. Three additional…”
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A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast by LISOWSKY, T, WEINSTAT-SASLOW, D. L, BARTON, N, REEDERS, S. T, SCHNEIDER, M. C

“…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…”
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CpG Island in the Region of an Autosomal Dominant Polycystic Kidney Disease Locus Defines the 5' End of a Gene Encoding a Putative Proton Channel by Gerald A. J. Gillespie, Somlo, Stefan, Germino, Gregory G., Weinstat-Saslow, Debra, Reeders, Stephen T.

“…In an attempt to isolate candidate genes for autosomal dominant polycystic kidney disease, a number of CpG-rich islands have been identified from a region…”
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Construction of a Map of Chromosome 16 by Using Radiation Hybrids by Ceccherini, I., Romeo, G., Lawrence, S., Breuning, M. H., Harris, P. C., Himmelbauer, H., Frischauf, A. M., Sutherland, G. R., Germino, G. G., Reeders, S. T., Morton, N. E.

“…A human-hamster cell hybrid carrying a single copy of chromosome 16 as the only human genetic material was irradiated with a single dose of γ-rays (7000 rads;…”
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The alpha 4(IV) chain of basement membrane collagen. Isolation of cDNAs encoding bovine alpha 4(IV) and comparison with other type IV collagens by Mariyama, M, Kalluri, R, Hudson, B G, Reeders, S T

“…Renal basement membranes are believed to contain five distinct type IV collagens. An understanding of the specific roles of these collagens and the…”
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