Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Apr 2023

Sun Bang, Lu Lin, Xie Shaowei, Zhang Wei, Zhang Xiaoxia, Tong Anli, Chen Shi, Wu Xueyan, Mao Jiangfeng, Wang Xi, Qiu Ling, Nie Min

Abstract excerpt

Steroid 11β-hydroxylase deficiency (11β-OHD) is a rare autosomal recessive disorder caused by pathogenic variants of CYP11B1 gene. This study aimed to perform molecular analysis of a Chinese 11β-OHD series and in vitro functional study of twenty CYP11B1 missense variants. Twelve Chinese patients with clinical diagnosis of 11β-OHD were included in the study to analyze their molecular etiology. Genomic DNA of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hyperplasia, Congenital
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to East Asian People

Share to Mutation

Share to Mutation, Missense

Share to Steroid 11-beta-Hydroxylase

Source

Identifiers

PMID: 36929050
DOI: 10.1096/fj.202201398RR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.PMID 36929050Read ↗

Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.Semantic proximity Read ↗

A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency.Semantic proximity Read ↗

Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.Semantic proximity Read ↗

Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.Semantic proximity Read ↗

Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by CYP11B gene mutation.Semantic proximity Read ↗

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.Semantic proximity Read ↗

A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.Semantic proximity Read ↗

Novel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency.Semantic proximity Read ↗

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.Semantic proximity Read ↗

Analyzing the Functional and Structural Consequences of Two Point Mutations (P94L and A368D) in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia Resulting from 11-Hydroxylase DeficiencySemantic proximity Read ↗

Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.Semantic proximity Read ↗

Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in theCYP11B1GeneSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.