Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia (Q34325047)

1 August 2017

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia (English)

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1 August 2017

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Shozeb Haider

1

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1 August 2017

Barira Islam

2

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1 August 2017

Valentina D'Atri

3

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1 August 2017

Miriam Sgobba

4

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1 August 2017

Chetan Poojari

5

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1 August 2017

Li Sun

6

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1 August 2017

Tony Yuen

7

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1 August 2017

Mone Zaidi

8

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1 August 2017

Maria I New

9

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1 August 2017

language of work or name

English

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publication date

28 January 2013

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Proceedings of the National Academy of Sciences of the United States of America

1 August 2017

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1 August 2017

110

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1 August 2017

2605-2610

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1 August 2017

7

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Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants

1 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Transmembrane helix dynamics of bacterial chemoreceptors supports a piston model of signalling.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Structure and dynamics of the membrane-bound cytochrome P450 2C9

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Multiple copies of cytochrome oxidase 1 in species of the fungal genus Fusarium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Uncovering the role of hydrophobic residues in cytochrome P450-cytochrome P450 reductase interactions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Molecular modeling on inhibitor complexes and active-site dynamics of cytochrome P450 C17, a target for prostate cancer therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Redox-coupled proton pumping in cytochrome c oxidase: further insights from computer simulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Extensive clinical experience: nonclassical 21-hydroxylase deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Structural basis for the role in protein folding of conserved proline-rich regions in cytochromes P450.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Comparative protein structure modeling. Introduction and practical examples with modeller.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

The PSIPRED protein structure prediction server

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Comparative protein modelling by satisfaction of spatial restraints

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Structure of human steroid 21-hydroxylase genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

A cysteine-histidine-aspartate catalytic triad is involved in glutamine amide transfer function in purF-type glutamine amidotransferases.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Stereochemical quality of protein structure coordinates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

6 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221133110

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221133110

Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221133110

Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221133110

Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221133110

Crystallographic study on the dioxygen complex of wild-type and mutant cytochrome P450cam. Implications for the dioxygen activation mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221133110

Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221133110

Novel mutations in CYP21 detected in individuals with hyperandrogenism.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574933

Functional characterization of threeCYP21A2sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system

28 October 2018

1 reference

12 December 2020

From Coarse Grained to Atomistic: A Serial Multiscale Approach to Membrane Protein Simulations

1 reference

12 December 2020

Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency

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12 December 2020

The role of amino-acid residues in the hydrophobic patch surrounding the haem group of cytochrome f in the interaction with plastocyanin

1 reference

12 December 2020

A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1221133110

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1 August 2017

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1 August 2017

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