Search Results - "Hoopes, Richard R."
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Dent Disease with Mutations in OCRL1
Published in American journal of human genetics (01-02-2005)“…Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe syndrome, a multisystem disease…”
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OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability
Published in Nephron. Physiology (01-01-2009)“…Dent disease is an X-linked renal proximal tubulopathy associated with mutations in CLCN5 (Dent 1) or OCRL1 (Dent 2). OCRL1 mutations also cause the…”
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Evidence for genetic heterogeneity in Dent's disease
Published in Kidney international (01-05-2004)“…Evidence for genetic heterogeneity in Dent's disease. Dent's disease (X-linked nephrolithiasis) is a proximal tubulopathy that has been consistently associated…”
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Isolation and confirmation of a calcium excretion quantitative trait locus on chromosome 1 in genetic hypercalciuric stone-forming congenic rats
Published in Journal of the American Society of Nephrology (01-05-2006)“…Hypercalciuria is the most common risk factor for kidney stones and has a substantial genetic component. The genetic hypercalciuric stone-forming (GHS) rat…”
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Quantitative trait loci for hypercalciuria in a rat model of kidney stone disease
Published in Journal of the American Society of Nephrology (01-07-2003)“…Hypercalciuria is the most common risk factor for kidney stones and has a recognized familial component. The genetic hypercalciuric stone-forming (GHS) rat is…”
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Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria
Published in Kidney international (01-01-2000)“…Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria. Idiopathic hypercalciuria (IH) is the most common risk factor for…”
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CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis
Published in Kidney international (01-09-1998)“…CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis. X-linked nephrolithiasis, or Dent's disease, encompasses…”
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In vitro Transcription of Baculovirus Immediate Early Genes: Accurate mRNA Initiation by Nuclear Extracts from Both Insect and Human Cells
Published in Proceedings of the National Academy of Sciences - PNAS (15-05-1991)“…The production and characterization of nuclear extracts from uninfected Spodoptera frugiperda cells, capable of accurately initiating transcription of…”
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In vitro transcription from baculovirus late gene promoters: accurate mRNA initiation by nuclear extracts prepared from infected Spodoptera frugiperda cells
Published in Journal of Virology (01-07-1993)“…Extracts prepared from nuclei of Autographa californica nuclear polyhedrosis virus-infected Spodoptera frugiperda cells were shown to support in vitro…”
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In vitro transactivation of baculovirus early genes by nuclear extracts from Autographa californica nuclear polyhedrosis virus-infected Spodoptera frugiperda cells
Published in Journal of Virology (01-06-1992)“…Nuclear extracts, prepared from Autographa californica nuclear polyhedrosis virus-infected Spodoptera frugiperda cells during a time course of infection, were…”
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