Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia. - Wikidata - wikimedia - TriplyDB

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.

http://www.wikidata.org/entity/Q34325047

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Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.Treatment and health outcomes in adults with congenital adrenal hyperplasia.Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.Recent Structural Insights into Cytochrome P450 Function.Dynamics of CYP51: implications for function and inhibitor design.A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche.Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems.Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia.17-Hydroxyprogesterone in children, adolescents and adults.Should children with isolated premature adrenarche be routinely evaluated for non-classical congenital adrenal hyperplasia?Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.High frequency of splice site mutation in 21-hydroxylase deficiency children.Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia.Ultralow-dose Dexamethasone to Preserve Endogenous Cortisol Stress Response in Nonclassical Congenital Adrenal Hyperplasia: A New Promising Treatment.Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.Cell biology: tumour stem cells in bone.CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.High carrier frequency of 21-hydroxylase deficiency in Cyprus.A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred.Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.

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P2860

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.

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Structure-phenotype correlatio ...... ongenital adrenal hyperplasia.

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Structure-phenotype correlatio ...... ongenital adrenal hyperplasia.

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The PSIPRED protein structure prediction server

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

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