Literature DB >> 22312092

A new look at vitamin D metabolism and "idiopathic" hypercalcemia.

William F Simonds.   

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Year:  2012        PMID： 22312092      PMCID： PMC3275357          DOI： 10.1210/jc.2011-3405

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  10 in total

1.  Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D.

Authors:  R St-Arnaud; A Arabian; R Travers; F Barletta; M Raval-Pandya; K Chapin; J Depovere; C Mathieu; S Christakos; M B Demay; F H Glorieux
Journal:  Endocrinology       Date:  2000-07       Impact factor: 4.736

2.  CYP24A1 mutations in idiopathic infantile hypercalcemia.

Authors:  Elizabeth A Streeten; Kiarash Zarbalian; Coleen M Damcott
Journal:  N Engl J Med       Date:  2011-11-03       Impact factor: 91.245

3.  CYP24A1 mutations in idiopathic infantile hypercalcemia.

Authors:  Hong-Fang Ji; Liang Shen
Journal:  N Engl J Med       Date:  2011-11-03       Impact factor: 91.245

4.  Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

Authors:  Karl P Schlingmann; Martin Kaufmann; Stefanie Weber; Andrew Irwin; Caroline Goos; Ulrike John; Joachim Misselwitz; Günter Klaus; Eberhard Kuwertz-Bröking; Henry Fehrenbach; Anne M Wingen; Tülay Güran; Joost G Hoenderop; René J Bindels; David E Prosser; Glenville Jones; Martin Konrad
Journal:  N Engl J Med       Date:  2011-06-15       Impact factor: 91.245

Review 5.  Exome sequencing as a tool for Mendelian disease gene discovery.

Authors:  Michael J Bamshad; Sarah B Ng; Abigail W Bigham; Holly K Tabor; Mary J Emond; Deborah A Nickerson; Jay Shendure
Journal:  Nat Rev Genet       Date:  2011-09-27       Impact factor: 53.242

6.  Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

Authors:  Andrew Dauber; Thutrang T Nguyen; Etienne Sochett; David E C Cole; Ronald Horst; Steven A Abrams; Thomas O Carpenter; Joel N Hirschhorn
Journal:  J Clin Endocrinol Metab       Date:  2011-11-23       Impact factor: 5.958

Review 7.  Targeted inactivation of vitamin D hydroxylases in mice.

Authors:  R St-Arnaud
Journal:  Bone       Date:  1999-07       Impact factor: 4.398

Review 8.  Hyperparathyroid genes: sequences reveal answers and questions.

Authors:  Stephen J Marx
Journal:  Endocr Pract       Date:  2011 Jul-Aug       Impact factor: 3.443

9.  Altered pharmacokinetics of 1alpha,25-dihydroxyvitamin D3 and 25-hydroxyvitamin D3 in the blood and tissues of the 25-hydroxyvitamin D-24-hydroxylase (Cyp24a1) null mouse.

Authors:  Sonoko Masuda; Valarie Byford; Alice Arabian; Yoshiyuki Sakai; Marie B Demay; René St-Arnaud; Glenville Jones
Journal:  Endocrinology       Date:  2004-10-21       Impact factor: 4.736

10.  Crystal structure of CYP24A1, a mitochondrial cytochrome P450 involved in vitamin D metabolism.

Authors:  Andrew J Annalora; David B Goodin; Wen-Xu Hong; Qinghai Zhang; Eric F Johnson; C David Stout
Journal:  J Mol Biol       Date:  2009-12-01       Impact factor: 5.469
  10 in total
  1 in total

1.  Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.

Authors:  Geoffrey N Hendy; David E C Cole
Journal:  J Clin Endocrinol Metab       Date:  2013-12       Impact factor: 5.958
  1 in total

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