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

Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects.

Scientific reports - 21 Jan 2020

An Hongjoo, Fan Chuandong, Sharif Mohamed, Kim Dongkyeong, Poitelon Yannick, Park Yungki

Abstract excerpt

Myrf is a membrane-bound transcription factor that plays a key role in various biological processes. The Intramolecular Chaperone Auto-processing (ICA) domain of Myrf forms a homo-trimer, which carries out the auto-cleavage of Myrf. The ICA homo-trimer-mediated auto-cleavage of Myrf is a prerequisite for its transcription factor function in the nucleus. Recent exome sequencing studies have implicated two MYRF ICA...

Read the complete abstract on PubMed

Topics

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

Share to Haploinsufficiency
Share to HEK293 Cells

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

Share to Hernias, Diaphragmatic, Congenital

Share to Membrane Proteins

Share to Models, Molecular

Share to Mutation, Missense

Share to Protein Conformation

Share to Protein Domains

Source

Open in PubMed Open full text

Identifiers

PMID: 31964908
DOI: 10.1038/s41598-020-57593-8
PMCID: PMC6972908

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.

Research trail→

Click a neighbor to travelStep 1 · 9 closest

Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects.PMID 31964908Read ↗

Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.Semantic proximity Read ↗

Genetic analysis of <i>de novo</i> variants reveals sex differences in complex and isolated congenital diaphragmatic hernia and indicates <i>MYRF</i> as a candidate geneSemantic proximity Read ↗

CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease.Semantic proximity Read ↗

A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.Semantic proximity Read ↗

Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variantSemantic proximity Read ↗

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disordersSemantic proximity Read ↗

Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes.Semantic proximity Read ↗

Role of chimeric transcript formation in the pathogenesis of birth defects.Semantic proximity Read ↗

[Analysis of MYRF gene variant in a fetus with Cardiac-urogenital syndrome].Semantic proximity Read ↗

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