Search Results - "Kos, Claudine H"
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Deficiency of the Calcium-Sensing Receptor in the Kidney Causes Parathyroid Hormone―Independent Hypocalciuria
Published in Journal of the American Society of Nephrology (01-11-2012)“…Rare loss-of-function mutations in the calcium-sensing receptor (Casr) gene lead to decreased urinary calcium excretion in the context of parathyroid hormone…”
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Journal Article -
2
Regulation of axonal and dendritic growth by the extracellular calcium-sensing receptor
Published in Nature neuroscience (01-03-2008)“…The extracellular calcium-sensing receptor (CaSR) monitors the systemic, extracellular, free ionized-calcium level ([Ca 2+ ] o ) in organs involved in systemic…”
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3
The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone
Published in The Journal of clinical investigation (01-04-2003)“…The extracellular calcium-sensing receptor (CaR; alternate gene names, CaR or Casr) is a membrane-spanning G protein-coupled receptor. CaR is highly expressed…”
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Journal Article -
4
Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein
Published in PLoS biology (01-06-2004)“…Focal segmental glomerulosclerosis (FSGS) is a common pattern of renal injury, seen as both a primary disorder and as a consequence of underlying insults such…”
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Journal Article -
5
Stem cell engraftment at the endosteal niche is specified by the calcium-sensing receptor
Published in Nature (02-02-2006)“…During mammalian ontogeny, haematopoietic stem cells (HSCs) translocate from the fetal liver to the bone marrow, where haematopoiesis occurs throughout…”
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6
Cre/loxP system for generating tissue-specific knockout mouse models
Published in Nutrition reviews (01-06-2004)“…Alteration of the mouse genome by conventional transgenic and gene-targeted approaches has greatly facilitated studies of gene function. However, a gene…”
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Marked Disturbance of Calcium Homeostasis in Mice With Targeted Disruption of the Trpv6 Calcium Channel Gene
Published in Journal of bone and mineral research (01-02-2007)“…We report the phenotype of mice with targeted disruption of the Trpv6 (Trpv6 KO) epithelial calcium channel. The mice exhibit disordered Ca2+ homeostasis,…”
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Mice deficient in alpha-actinin-4 have severe glomerular disease
Published in The Journal of clinical investigation (01-06-2003)“…Dominantly inherited mutations in ACTN4, which encodes alpha-actinin-4, cause a form of human focal and segmental glomerulosclerosis (FSGS). By homologous…”
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Methods in Nutrition Science: Cre/loxP System for Generating Tissue-specific Knockout Mouse Models
Published in Nutrition reviews (01-06-2004)“…Editor's note: From time to time, we take the opportunity in Nutrition Reviews to highlight a particularly exciting application of sophisticated methodological…”
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10
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene
Published in Journal of the American Society of Nephrology (01-03-2001)“…Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a renal phosphate (Pi) wasting disease first described in an extended Bedouin kindred, is…”
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Mice deficient in alpha -actinin-4 have severe glomerular disease
Published in The Journal of clinical investigation (01-06-2003)“…Dominantly inherited mutations in ACTN4, which encodes alpha -actinin-4, cause a form of human focal and segmental glomerulosclerosis (FSGS). By homologous…”
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Journal Article -
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High resolution mapping of the renal sodium-phosphate cotransporter gene (NPT2) confirms its localization to human chromosome 5q35
Published in Pediatric research (01-05-1997)“…The precise chromosomal localization of the type II renal-specific Na+-phosphate (Pi) cotransporter (NPT2) gene (gene symbol SLC17A2) is necessary for the…”
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Conference Proceeding Journal Article -
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The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone
Published in The Journal of clinical investigation (01-04-2003)“…The extracellular calcium-sensing receptor (CAR; alternate gene names, CaR or Casr) is a membrane-spanning G protein-coupled receptor. CaR is highly expressed…”
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Journal Article -
14
Mice deficient in [alpha]-actinin-4 have severe glomerular disease
Published in The Journal of clinical investigation (01-06-2003)“…Dominantly inherited mutations in ACTN4, which encodes alpha-actinin-4, cause a form of human focal and segmental glomerulosclerosis (FSGS). By homologous…”
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Journal Article -
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[alpha]-Actinin-4-Mediated FSGS: An Inherited Kidney Disease Caused by an Aggregated and Rapidly Degraded Cytoskeletal Protein: e167
Published in PLoS biology (01-06-2004)“…Focal segmental glomerulosclerosis (FSGS) is a common pattern of renal injury, seen as both a primary disorder and as a consequence of underlying insults such…”
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Journal Article -
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Localization of a renal sodium-phosphate cotransporter gene to human chromosome 5q35
Published in Genomics (San Diego, Calif.) (01-01-1994)Get more information
Journal Article -
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The role of the renal sodium -dependent phosphate cotransporter genes, NPT1 and NPT2, in inherited hypophosphatemias
Published 01-01-1998“…This thesis includes three studies examining the role of the type I (NPT1) and type II (NPT2) renal sodium (Na+)-phosphate (Pi) cotransporter genes in…”
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Dissertation