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 loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.

Clinical genetics - 1 Apr 2022

Turgut Gozde Tutku, Altunoglu Umut, Sivrikoz Tugba Sarac, Toksoy Guven, Kalaycı Tuğba, Avcı Şahin, Karaman Birsen, Gulec Cagri, Başaran Seher, Sayın Gözde Yeşil, Kayserili Hulya, Uyguner Zehra Oya

Abstract excerpt

Multiple congenital contractures (MCC) comprise a number of rare, non-progressive conditions displaying marked phenotypic and etiologic heterogeneity. A genetic cause can be established in approximately half of the affected individuals, attributed to genetic defects in the formation and functioning of the central and peripheral nervous system, neuromuscular junctions, skeletal muscles, and connective tissue....

Read the complete abstract on PubMed

Topics

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

Share to Arthrogryposis
Share to Contracture

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Ubiquitin

Share to Ubiquitin-Specific Proteases

Share to Ubiquitin Thiolesterase

Source

Identifiers

PMID: 35066879
DOI: 10.1111/cge.14117

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

Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.PMID 35066879Read ↗

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.Semantic proximity Read ↗

Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.Semantic proximity Read ↗

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.Semantic proximity Read ↗

Role of USP13 in physiology and diseasesSemantic proximity Read ↗

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenitaSemantic proximity Read ↗

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.Semantic proximity Read ↗

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.Semantic proximity Read ↗

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.Semantic proximity Read ↗

A revised and extended classification of the distal arthrogryposesSemantic proximity Read ↗

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.Semantic proximity Read ↗

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.Semantic proximity Read ↗

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.Semantic proximity Read ↗

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