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

A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.

Clinical immunology (Orlando, Fla.) - 1 Jan 2017

Ueki Masahiro, Yamada Masafumi, Ito Kenta, Tozawa Yusuke, Morino Saeko, Horikoshi Yuho, Takada Hidetoshi, Abdrabou Shimaa Said Mohamed Ali, Takezaki Shunichiro, Kobayashi Ichiro, Ariga Tadashi

Abstract excerpt

Heterozygous dominant-negative mutations of STAT1 are responsible for autosomal-dominant Mendelian susceptibility to mycobacterial diseases (AD-MSMD). So far, only 7 mutations have been previously described and are localized to 3 domains: the DNA-binding domain, the SH2 domain, and the tail segment. In this study, we demonstrated the first coiled-coil domain (CCD) mutation of c.749G>C, p.G250A (G250A) in STAT1 as...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to STAT1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Mutation

Share to Mycobacterium Infections

Share to Protein Domains

Share to STAT1 Transcription Factor

Source

Identifiers

PMID: 27856304
DOI: 10.1016/j.clim.2016.11.004

Genes

STAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.PMID 27856304Read ↗

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.Semantic proximity Read ↗

A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.Semantic proximity Read ↗

Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.Semantic proximity Read ↗

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.Semantic proximity Read ↗

Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette-Guerin osteomyelitis.Semantic proximity Read ↗

Two novel STAT1 mutations cause Mendelian susceptibility to mycobacterial disease.Semantic proximity Read ↗

Gain-of-function human <i>STAT1</i> mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasisSemantic proximity Read ↗

A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection.Semantic proximity Read ↗

Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.Semantic proximity Read ↗

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.Semantic proximity Read ↗

Genetic and Functional Identifying of Novel Autosomal Dominant STAT1 Loss-of-function Mutations in Patients with Diverse Clinical PhenotypesSemantic proximity Read ↗

Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.Semantic proximity Read ↗

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