Literature DB >> 21869486

Novel vitamin D 1α-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient.

Lihua Cao1, Fang Liu, Yu Wang, Jian Ma, Shusen Wang, Libo Wang, Yang Zhang, Chen Chen, Yang Luo, Hongwei Ma.   

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Year:  2011        PMID： 21869486     DOI： 10.1007/s12041-011-0070-1

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  14 in total

Review 1.  Vitamin D 1 alpha-hydroxylase.

Authors:  W L Miller; A A Portale
Journal:  Trends Endocrinol Metab       Date:  2000-10       Impact factor: 12.015

2.  Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

Authors:  S Kitanaka; K Takeyama; A Murayama; T Sato; K Okumura; M Nogami; Y Hasegawa; H Niimi; J Yanagisawa; T Tanaka; S Kato
Journal:  N Engl J Med       Date:  1998-03-05       Impact factor: 91.245

3.  No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.

Authors:  S Kitanaka; A Murayama; T Sakaki; K Inouye; Y Seino; S Fukumoto; M Shima; S Yukizane; M Takayanagi; H Niimi; K Takeyama; S Kato
Journal:  J Clin Endocrinol Metab       Date:  1999-11       Impact factor: 5.958

4.  Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

Authors:  S J Smith; A K Rucka; J L Berry; M Davies; S Mylchreest; C R Paterson; D A Heath; M Tassabehji; A P Read; A P Mee; E B Mawer
Journal:  J Bone Miner Res       Date:  1999-05       Impact factor: 6.741

5.  Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.

Authors:  S Clausmeyer; V Hesse; P C Clemens; M Engelbach; M Kreuzer; P Becker-Rose; H Spital; E Schulze; F Raue
Journal:  Calcif Tissue Int       Date:  2009-06-10       Impact factor: 4.333

6.  Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I1.

Authors:  T Yoshida; T Monkawa; H S Tenenhouse; P Goodyer; T Shinki; T Suda; S Wakino; M Hayashi; T Saruta
Journal:  Kidney Int       Date:  1998-11       Impact factor: 10.612

7.  Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.

Authors:  Chan Jong Kim; Larry E Kaplan; Farzana Perwad; Ningwu Huang; Amita Sharma; Yong Choi; Walter L Miller; Anthony A Portale
Journal:  J Clin Endocrinol Metab       Date:  2007-05-08       Impact factor: 5.958

8.  Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.

Authors:  J T Wang; C J Lin; S M Burridge; G K Fu; M Labuda; A A Portale; W L Miller
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

9.  Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.

Authors:  Xuemei Wang; Martin Y H Zhang; Walter L Miller; Anthony A Portale
Journal:  J Clin Endocrinol Metab       Date:  2002-06       Impact factor: 5.958

10.  Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor.

Authors:  Peter J Malloy; Jining Wang; Tarak Srivastava; David Feldman
Journal:  Mol Genet Metab       Date:  2010-01       Impact factor: 4.797
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  2 in total

1.  A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.

Authors:  Bahar Özcabı; Feride Tahmiscioğlu Bucak; Sevinç Jaferova; Çiğdem Oruç; Amra Adrovic; Serdar Ceylaner; Oya Ercan; Olcay Evliyaoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2016-06-29

2.  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
  2 in total

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