Literature DB >> 22047571

CYP24A1 mutations in idiopathic infantile hypercalcemia.

Hong-Fang Ji, Liang Shen.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 22047571     DOI： 10.1056/NEJMc1110226

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


× No keyword cloud information.
  7 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

2.  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

3.  Genetic polymorphisms in vitamin D pathway influence 25(OH)D levels and are associated with atopy and asthma.

Authors:  Alana Alcântara Galvão; Flávia de Araújo Sena; Emília Maria Medeiros de Andrade Belitardo; Maria Borges Rabelo de Santana; Gustavo Nunes de Oliveira Costa; Álvaro Augusto Cruz; Maurício Lima Barreto; Ryan Dos Santos Costa; Neuza Maria Alcantara-Neves; Camila Alexandrina Figueiredo
Journal:  Allergy Asthma Clin Immunol       Date:  2020-07-09       Impact factor: 3.406

4.  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

5.  Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature.

Authors:  Daniele Cappellani; Alessandro Brancatella; Martin Kaufmann; Angelo Minucci; Edda Vignali; Domenico Canale; Elisa De Paolis; Ettore Capoluongo; Filomena Cetani; Glenville Jones; Claudio Marcocci
Journal:  Case Rep Endocrinol       Date:  2019-04-08

6.  Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1.

Authors:  René St-Arnaud; Alice Arabian; Dila Kavame; Martin Kaufmann; Glenville Jones
Journal:  Nutrients       Date:  2022-08-06       Impact factor: 6.706

7.  Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes.

Authors:  Selvaraman Nagamani; Kh Dhanachandra Singh; Karthikeyan Muthusamy
Journal:  Meta Gene       Date:  2016-03-31
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.