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

Further delineation of putative ACTB loss-of-function variants: A 4-patient series.

Human mutation - 1 Apr 2020

Baumann Matthias, Beaver Erin M, Palomares-Bralo María, Santos-Simarro Fernando, Holzer Peter, Povysil Gundula, Müller Thomas, Valovka Taras, Janecke Andreas R

Abstract excerpt

ACTB encodes β-cytoplasmic actin, an essential component of the cytoskeleton. Based on chromosome 7p22.1 deletions that include the ACTB locus and on rare truncating ACTB variants, a phenotype resulting from ACTB haploinsufficiency was recently proposed. We report putative ACTB loss-of-function variants in four patients. To the best of our knowledge, we report the first 7p22.1 microdeletion confined to ACTB and...

Read the complete abstract on PubMed

Topics

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

Share to Actins
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Loci

Share to Loss of Function Mutation

Share to Magnetic Resonance Imaging

Share to Models, Molecular

Share to Protein Conformation

Share to Structure-Activity Relationship

Source

Open in PubMed Open full text

Identifiers

PMID: 31898838
DOI: 10.1002/humu.23970
PMCID: PMC7155001

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

Further delineation of putative ACTB loss-of-function variants: A 4-patient series.PMID 31898838Read ↗

Genomic and biological panoramas of non-muscle actinopathiesSemantic proximity Read ↗

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with <i>ACTB</i> mutationsSemantic proximity Read ↗

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopeniaSemantic proximity Read ↗

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.Semantic proximity Read ↗

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.Semantic proximity Read ↗

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.Semantic proximity Read ↗

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.Semantic proximity Read ↗

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.Semantic proximity Read ↗

Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial Syndrome with a variant in <i>ACTB</i>Semantic proximity Read ↗

[Overview of cytoskeletal actin mutations associated with rare diseases].Semantic proximity Read ↗

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.Semantic proximity Read ↗

Functional Analysis of a De NovoACTBMutation in a Patient with Atypical Baraitser-Winter SyndromeSemantic proximity Read ↗

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