(Q43955522)

28 November 2017

title

Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations (English)

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28 November 2017

6

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28 November 2017

Minjing Zou

1

1 reference

28 November 2017

Essa Y Baitei

2

1 reference

28 November 2017

Ali S Alzahrani

3

1 reference

28 November 2017

Ranjit S Parhar

4

1 reference

28 November 2017

Futwan A Al-Mohanna

5

1 reference

28 November 2017

Yufei Shi

7

1 reference

28 November 2017

publication date

21 May 2011

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28 November 2017

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28 November 2017

volume

40

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28 November 2017

issue

1

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28 November 2017

page(s)

14-20

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

28 November 2017

1 reference

Genetics of vitamin D biosynthesis and its disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

CYP3A4 is a vitamin D-24- and 25-hydroxylase: analysis of structure function by site-directed mutagenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Minireview: regulation of steroidogenesis by electron transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Vitamin D biosynthesis and vitamin D 1 alpha-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Ribonucleic acid interference targeting S100A4 (Mts1) suppresses tumor growth and metastasis of anaplastic thyroid carcinoma in a mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Human non-synonymous SNPs: server and survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Protein secondary structure prediction based on position-specific scoring matrices

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Genetic disorders of vitamin D biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Cloning and expression of rat 25-hydroxyvitamin D3-1alpha-hydroxylase cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Structure and function of cytochromes P450: a comparative analysis of three crystal structures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Enzymes involved in the activation and inactivation of vitamin D.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Homology modeling of human 25-hydroxyvitamin D3 1alpha-hydroxylase (CYP27B1) based on the crystal structure of rabbit CYP2C5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-011-9489-7

Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Substrate recognition sites in cytochrome P450 family 2 (CYP2) proteins inferred from comparative analyses of amino acid and coding nucleotide sequences

1 reference

12 December 2020

Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX)

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational analysis of PHEX gene in X-linked hypophosphatemia

1 reference

12 December 2020

Protein structure prediction servers at University College London

1 reference

12 December 2020

Site-directed mutagenesis using overlap extension PCR.

1 reference

12 December 2020

A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1

1 reference

12 December 2020

10.1007/S12020-011-9489-7

Identifiers

DOI

1 reference

Dimensions Publication ID

28 November 2017

1010733827

0 references

1 reference