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

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

7 Jan 2019

Abstract excerpt

The uncharacterized gene KIAA1109 has recently been associated with a congenital neurological malformation disorder that variably presents with arthrogryposis, craniofacial and/or cardiac abnormalities. We have identified two additional patients with compound heterozygous KIAA1109 variants presenting with the same neurological malformations. The mechanism whereby KIAA1109 loss of function causes this spectrum of...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Erythrocyte Function and Pathophysiology
Share to Fetal and Pediatric Neurological Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30906834
DOI: 10.1016/j.gendis.2018.12.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variantsPMID 30906834Read ↗

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.Semantic proximity Read ↗

Cargos and genes: insights into vesicular transport from inherited human disease.Semantic proximity Read ↗

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.Semantic proximity Read ↗

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.Semantic proximity Read ↗

Identification and validation of novel candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulasSemantic proximity Read ↗

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian DisorderSemantic proximity Read ↗

Deficiency in the endocytic adaptor protein PHETA1/2 impairs renal and craniofacial developmentSemantic proximity Read ↗

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.Semantic proximity Read ↗

Regulated extracellular matrix trafficking shapes cell growth during cartilage morphogenesisSemantic proximity Read ↗

A meckelin-filamin A interaction mediates ciliogenesis.Semantic proximity Read ↗

Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic developmentSemantic proximity Read ↗

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.Semantic proximity Read ↗

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