(Q33802852)

29 July 2017

title

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

1 reference

29 July 2017

Alejandro D Nadra

2

0 references

author name string

Carolina Minutolo

1

1 reference

29 July 2017

Cecilia Fernández

3

1 reference

29 July 2017

Melisa Taboas

4

1 reference

29 July 2017

Noemí Buzzalino

5

1 reference

29 July 2017

Bárbara Casali

6

1 reference

29 July 2017

Susana Belli

7

1 reference

29 July 2017

Eduardo H Charreau

8

1 reference

29 July 2017

Liliana Alba

9

1 reference

29 July 2017

Liliana Dain

10

1 reference

29 July 2017

language of work or name

English

0 references

publication date

11 January 2011

1 reference

29 July 2017

1 reference

29 July 2017

volume

6

1 reference

29 July 2017

issue

1

1 reference

29 July 2017

page(s)

e15899

1 reference

Creative Commons Attribution 4.0 International

29 July 2017

copyright license

start time

11 January 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Biskit--a software platform for structural bioinformatics

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

The FoldX web server: an online force field

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Functional interaction of cytochrome P450 with its redox partners: a critical assessment and update of the topology of predicted contact regions

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Newborn screening for congenital adrenal hyperplasia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

High frequency of nonclassical steroid 21-hydroxylase deficiency

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Current status of neonatal screening for congenital adrenal hyperplasia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

A novel cAMP-dependent regulatory region including a sequence like the cAMP-responsive element, far upstream of the human CYP21A2 gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Structure of human steroid 21-hydroxylase genes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Congenital adrenal hyperplasia

4 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015899

Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015899

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015899

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015899

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015899

p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015899

Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015899

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/10.1371%2FJOURNAL.PONE.0015899

Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019215

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

30 October 2018

1 reference

12 December 2020

Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein

1 reference

12 December 2020

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype

1 reference

12 December 2020

Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population

1 reference

12 December 2020

Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women

1 reference

12 December 2020

Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations

1 reference

12 December 2020

Neonatal screening for congenital adrenal hyperplasia

1 reference

12 December 2020

High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

1 reference

12 December 2020

Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0015899

Identifiers

DOI

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference