Literature DB >> 24875559

CYP24A1 mutation leading to nephrocalcinosis.

Frances E Dowen1, Judith A Sayers2, Ann M Hynes2, John A Sayer3.   

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Year:  2014        PMID： 24875559     DOI： 10.1038/ki.2013.416

Source DB:  PubMed          Journal:  Kidney Int        ISSN： 0085-2538            Impact factor:   10.612


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  5 in total

1.  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

2.  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 3.  Interactions of vitamin D and the proximal tubule.

Authors:  Russell W Chesney
Journal:  Pediatr Nephrol       Date:  2015-01-25       Impact factor: 3.714

4.  Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.

Authors:  Agnieszka Janiec; Paulina Halat-Wolska; Łukasz Obrycki; Elżbieta Ciara; Marek Wójcik; Paweł Płudowski; Aldona Wierzbicka; Ewa Kowalska; Janusz B Książyk; Zbigniew Kułaga; Ewa Pronicka; Mieczysław Litwin
Journal:  Nephrol Dial Transplant       Date:  2021-07-23       Impact factor: 5.992

5.  24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D-mediated Hypercalcemia Disorders.

Authors:  Sarah M Azer; Lisa E Vaughan; Peter J Tebben; David J Sas
Journal:  J Endocr Soc       Date:  2021-07-02
  5 in total

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