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

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Human molecular genetics - 1 Jun 2017

Kim Sharon, Twigg Stephen R F, Scanlon Victoria A, Chandra Aditi, Hansen Tyler J, Alsubait Arwa, Fenwick Aimee L, McGowan Simon J, Lord Helen, Lester Tracy, Sweeney Elizabeth, Weber Astrid, Cox Helen, Wilkie Andrew O M, Golden Andy, Corsi Ann K

Abstract excerpt

Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific craniofacial disorders. Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Acrocephalosyndactylia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Caenorhabditis elegans

Share to Eye Abnormalities

Share to Haploinsufficiency

Share to Helix-Loop-Helix Motifs

Share to Protein Domains

Share to Twist-Related Protein 1

Source

Open in PubMed Open full text

Identifiers

PMID: 28369379
DOI: 10.1093/hmg/ddx107
PMCID: PMC5438873

Genes

TWIST1
TWIST2

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

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.PMID 28369379Read ↗

A Twist-Box domain of the C. elegans Twist homolog, HLH-8, plays a complex role in transcriptional regulation.Semantic proximity Read ↗

Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome.Semantic proximity Read ↗

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Semantic proximity Read ↗

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.Semantic proximity Read ↗

Functional analysis of natural mutations in two TWIST protein motifs.Semantic proximity Read ↗

Mutations in the human TWIST gene.Semantic proximity Read ↗

Saethre-Chotzen syndrome: a case report.Semantic proximity Read ↗

Using Caenorhabditis elegans as a Model for Mechanistic Insights of Craniofacial Development.Semantic proximity Read ↗

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.Semantic proximity Read ↗

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.Semantic proximity Read ↗

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.Semantic proximity Read ↗

An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.Semantic proximity Read ↗

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