Literature DB >> 14510901

Extracellular calcium-sensing receptor dysfunction is associated with two new phenotypes.

John A Sayer1, Simon H S Pearce.   

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Year:  2003        PMID: 14510901     DOI: 10.1046/j.1365-2265.2003.01869.x

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN: 0300-0664            Impact factor:   3.478


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  5 in total

1.  Identification and dissection of Ca(2+)-binding sites in the extracellular domain of Ca(2+)-sensing receptor.

Authors:  Yun Huang; Yubin Zhou; Wei Yang; Robert Butters; Hsiau-Wei Lee; Shunyi Li; Adriana Castiblanco; Edward M Brown; Jenny J Yang
Journal:  J Biol Chem       Date:  2007-05-03       Impact factor: 5.157

Review 2.  Minireview: the intimate link between calcium sensing receptor trafficking and signaling: implications for disorders of calcium homeostasis.

Authors:  Gerda E Breitwieser
Journal:  Mol Endocrinol       Date:  2012-06-28

3.  Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity.

Authors:  Shalabh Srivastava; Dimin Li; Noel Edwards; Ann-M Hynes; Katrina Wood; Mohamed Al-Hamed; Anna C Wroe; David Reaich; Shabbir H Moochhala; Paul A Welling; John A Sayer
Journal:  Physiol Rep       Date:  2013-11-19

4.  Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia.

Authors:  Saskia Letz; Christine Haag; Egbert Schulze; Karin Frank-Raue; Friedhelm Raue; Benjamin Hofner; Bernhard Mayr; Christof Schöfl
Journal:  PLoS One       Date:  2014-12-15       Impact factor: 3.240

5.  A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.

Authors:  Asma Deeb; Salima Atia Abood; Job Simon; Hormazdiar Dastoor; Simon Hs Pearce; John A Sayer
Journal:  BMC Res Notes       Date:  2013-12-10
  5 in total

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