Literature DB >> 12964431

Vitamin D biosynthesis and vitamin D 1 alpha-hydroxylase deficiency.

Walter L Miller1, Anthony A Portale.   

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Year:  2003        PMID： 12964431     DOI： 10.1159/000072775

Source DB:  PubMed          Journal:  Endocr Dev        ISSN： 1421-7082


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  8 in total

1.  Single A326G mutation converts human CYP24A1 from 25-OH-D3-24-hydroxylase into -23-hydroxylase, generating 1alpha,25-(OH)2D3-26,23-lactone.

Authors:  David E Prosser; Martin Kaufmann; Brendan O'Leary; Valarie Byford; Glenville Jones
Journal:  Proc Natl Acad Sci U S A       Date:  2007-07-23       Impact factor: 11.205

2.  Reduced hepatic synthesis of calcidiol in uremia.

Authors:  Josée Michaud; Judith Naud; Denis Ouimet; Christian Demers; Jean-Luc Petit; Francois A Leblond; Alain Bonnardeaux; Marielle Gascon-Barré; Vincent Pichette
Journal:  J Am Soc Nephrol       Date:  2010-07-01       Impact factor: 10.121

3.  Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.

Authors:  Minjing Zou; Essa Y Baitei; Ali S Alzahrani; Ranjit S Parhar; Futwan A Al-Mohanna; Brian F Meyer; Yufei Shi
Journal:  Endocrine       Date:  2011-05-21       Impact factor: 3.633

4.  Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.

Authors:  Doua Khalid Al Homyani; Shahad Khalid Alhemaiani
Journal:  Front Endocrinol (Lausanne)       Date:  2022-05-18       Impact factor: 6.055

5.  Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.

Authors:  Korcan Demir; Walaa E Kattan; Minjing Zou; Erdem Durmaz; Huda BinEssa; Özlem Nalbantoğlu; Roua A Al-Rijjal; Brian Meyer; Behzat Özkan; Yufei Shi
Journal:  PLoS One       Date:  2015-07-01       Impact factor: 3.240

6.  Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.

Authors:  Minjing Zou; Ayla Guven; Huda A BinEssa; Roua A Al-Rijjal; Brian F Meyer; Ali S Alzahrani; Yufei Shi
Journal:  Front Genet       Date:  2020-11-27       Impact factor: 4.599

7.  Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation.

Authors:  Laila Füchtbauer; Klaus Brusgaard; Pål Ledaal; Morten Frost; Anja L Frederiksen
Journal:  Clin Case Rep       Date:  2015-11-05

8.  Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up.

Authors:  Yunfei Li; Xin Yuan; Ruimin Chen; Xiangquan Lin; Huakun Shangguan; Xiaohong Yang; Ying Zhang
Journal:  Orphanet J Rare Dis       Date:  2020-10-01       Impact factor: 4.123
  8 in total

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