Related references
Note: Only part of the references are listed.21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations
Ruifang Wang et al.
STEROIDS (2016)
Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase STRUCTURE OF THE ENZYME.PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE
Pradeep S. Pallan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
An integrated map of structural variation in 2,504 human genomes
Peter H. Sudmant et al.
NATURE (2015)
Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations
I. Milacic et al.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2015)
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia
Michela Barbaro et al.
CLINICAL ENDOCRINOLOGY (2015)
The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients
Deniz Kirac et al.
ANNALS OF HUMAN GENETICS (2014)
Functional and Structural Analysis of Four Novel Mutations of CYP21A2 Gene in Italian Patients with 21-Hydroxylase Deficiency
A. Massimi et al.
HORMONE AND METABOLIC RESEARCH (2014)
Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene
Melisa Taboas et al.
PLOS ONE (2014)
Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia
Ingeborg Bronstad et al.
ENDOCRINE CONNECTIONS (2014)
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia
Shozeb Haider et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
Maria I. New et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Three-dimensional Structure of Steroid 21-Hydroxylase (Cytochrome P450 21A2) with Two Substrates Reveals Locations of Disease-associated Variants
Bin Zhao et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Toward the estimation of the absolute quality of individual protein structure models
Pascal Benkert et al.
BIOINFORMATICS (2011)
SDM-a server for predicting effects of mutations on protein stability and malfunction
Catherine L. Worth et al.
NUCLEIC ACIDS RESEARCH (2011)
Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients
Carolina Minutolo et al.
PLOS ONE (2011)
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations
Paola Concolino et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2010)
Phenotype-Genotype Correlations of 13 Rare CYP21A2 Mutations Detected in 46 Patients Affected with 21-Hydroxylase Deficiency and in One Carrier
V. Tardy et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
Phyllis W. Speiser et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Using protein design algorithms to understand the molecular basis of disease caused by protein-DNA interactions: the Pax6 example
Andreu Alibes et al.
NUCLEIC ACIDS RESEARCH (2010)
Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9
M. Wasniewska et al.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2009)
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency
R. Menassa et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients
F. C. Soardi et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases
Angel L. Pey et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran
Alireza Baradaran-Heravi et al.
CLINICAL ENDOCRINOLOGY (2007)
MEGA4: Molecular evolutionary genetics analysis (MEGA) software version 4.0
Koichiro Tamura et al.
MOLECULAR BIOLOGY AND EVOLUTION (2007)
Statistical potential for assessment and prediction of protein structures
Min-Yi Shen et al.
PROTEIN SCIENCE (2006)
Molecular model of human CYP21 based on mammalian CYP2C5: Structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia
Tiina Robins et al.
MOLECULAR ENDOCRINOLOGY (2006)
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency
J Bojunga et al.
HUMAN GENETICS (2005)
The FoldX web server: an online force field
J Schymkowitz et al.
NUCLEIC ACIDS RESEARCH (2005)
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
V Dolzan et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2005)
Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants
DR Nelson et al.
PHARMACOGENETICS (2004)
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands: Six novel mutations and a specific cluster of four mutations
NMML Stikkelbroeck et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in Caucasians:: The load of RCCX genetic diversity on major histocompatibility complex-associated disease
CA Blanchong et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2000)
Share Paper
