Literature DB >> 22047572

CYP24A1 mutations in idiopathic infantile hypercalcemia.

Elizabeth A Streeten, Kiarash Zarbalian, Coleen M Damcott.   

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Year:  2011        PMID： 22047572     DOI： 10.1056/NEJMc1110226

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  18 in total

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

Authors:  William F Simonds
Journal:  J Clin Endocrinol Metab       Date:  2012-02       Impact factor: 5.958

Review 2.  Biology and Mechanisms of Action of the Vitamin D Hormone.

Authors:  J Wesley Pike; Sylvia Christakos
Journal:  Endocrinol Metab Clin North Am       Date:  2017-09-29       Impact factor: 4.741

3.  A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.

Authors:  Pietro Manuel Ferraro; Angelo Minucci; Aniello Primiano; Elisa De Paolis; Jacopo Gervasoni; Silvia Persichilli; Alessandro Naticchia; Ettore Capoluongo; Giovanni Gambaro
Journal:  Urolithiasis       Date:  2016-09-17       Impact factor: 3.436

Review 4.  Cytochrome P450-mediated metabolism of vitamin D.

Authors:  Glenville Jones; David E Prosser; Martin Kaufmann
Journal:  J Lipid Res       Date:  2013-04-06       Impact factor: 5.922

5.  Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect.

Authors:  D T O'Keeffe; P J Tebben; R Kumar; R J Singh; Y Wu; R A Wermers
Journal:  Osteoporos Int       Date:  2016-04-29       Impact factor: 4.507

Review 6.  Functions of vitamin D in bone.

Authors:  D Goltzman
Journal:  Histochem Cell Biol       Date:  2018-02-12       Impact factor: 4.304

7.  1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

Authors:  Galina Nesterova; May Christine Malicdan; Kaori Yasuda; Toshiyuki Sakaki; Thierry Vilboux; Carla Ciccone; Ronald Horst; Yan Huang; Gretchen Golas; Wendy Introne; Marjan Huizing; David Adams; Cornelius F Boerkoel; Michael T Collins; William A Gahl
Journal:  Clin J Am Soc Nephrol       Date:  2013-01-04       Impact factor: 8.237

8.  The cytochrome P450 24A1 interaction with adrenodoxin relies on multiple recognition sites that vary among species.

Authors:  D Fernando Estrada
Journal:  J Biol Chem       Date:  2018-01-25       Impact factor: 5.157

Review 9.  A lifetime of hypercalcemia and hypercalciuria, finally explained.

Authors:  Thomas P Jacobs; Martin Kaufman; Glenville Jones; Rajiv Kumar; Karl-Peter Schlingmann; Sue Shapses; John P Bilezikian
Journal:  J Clin Endocrinol Metab       Date:  2014-01-13       Impact factor: 5.958

10.  Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene.

Authors:  Filip Fencl; Květa Bláhová; Karl Peter Schlingmann; Martin Konrad; Tomáš Seeman
Journal:  Eur J Pediatr       Date:  2012-09-22       Impact factor: 3.183
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