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

Biallelic variants in DNAH10 are associated with skeletal developmental abnormalities and ciliary dysfunction.

Journal of medical genetics - 23 Jul 2026

Zheng Rui, Du Xinrong, Yan Jierui, Huang Gelin, Guo Zhuoyao, Li Wei, Que Hanyun, Wen Yuting, Yan Fei, Chen Daijuan, Dai Li, Shi Yu, Chen Weicheng, Xu Wenming

Abstract excerpt

BACKGROUND: Primary cilia are essential for skeletal development by coordinating key signalling pathways in osteoblasts and chondrocytes. While pathogenic variants in approximately 40 genes have been linked to skeletal ciliopathies, additional causative genes remain to be identified. Although DNAH10 is well characterised in motile cilia, its role in primary cilia remains unclear. METHODS: Whole-exome sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Axonemal Dyneins
Share to Chondrocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Mice, Knockout

Share to Mutation, Missense

Share to Osteoblasts

Share to Signal Transduction

Source

Identifiers

PMID: 42086325
DOI: 10.1136/jmg-2025-111109

Genes

DNAH10

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

Biallelic variants in DNAH10 are associated with skeletal developmental abnormalities and ciliary dysfunction.PMID 42086325Read ↗

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signalingSemantic proximity Read ↗

Ciliopathies: Coloring outside of the lines.Semantic proximity Read ↗

Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.Semantic proximity Read ↗

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.Semantic proximity Read ↗

Ciliary disorder of the skeletonSemantic proximity Read ↗

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.Semantic proximity Read ↗

Whole-exome sequencing study of hypospadiasSemantic proximity Read ↗

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.Semantic proximity Read ↗

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Semantic proximity Read ↗

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.Semantic proximity Read ↗

Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.Semantic proximity Read ↗

Distinct effects of hypomorphic IFT and dynein-2 skeletal ciliopathy disease alleles on chondrogenic differentiation, ECM composition and wnt signalling in ATDC5 derived cartilage-like organoidsSemantic proximity Read ↗

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