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

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

American journal of human genetics - 13 May 2011

Mazor Masha, Alkrinawi Soliman, Chalifa-Caspi Vered, Manor Esther, Sheffield Val C, Aviram Micha, Parvari Ruti

Abstract excerpt

In primary ciliary dyskinesia (PCD), genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility. The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that are large multiprotein complexes responsible for cilia-beat generation and regulation, respectively. Although it has...

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 Cilia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Flagella

Share to Infertility, Male

Share to Kartagener Syndrome

Share to Point Mutation

Share to Protein Structure, Secondary

Share to Tubulin

Source

Open in PubMed Open full text

Identifiers

PMID: 21496787
DOI: 10.1016/j.ajhg.2011.03.018
PMCID: PMC3146731

Genes

DNAL1

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

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.PMID 21496787Read ↗

Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.Semantic proximity Read ↗

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.Semantic proximity Read ↗

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

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.Semantic proximity Read ↗

Genetic Defects in Ciliary Structure and FunctionSemantic proximity Read ↗

Genetics and biology of primary ciliary dyskinesia.Semantic proximity Read ↗

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.Semantic proximity Read ↗

ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary DyskinesiaSemantic proximity Read ↗

<i>DNAI1</i> Mutations Explain Only 2% of Primary Ciliary DykinesiaSemantic proximity Read ↗

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.Semantic proximity Read ↗

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.Semantic proximity Read ↗

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.Semantic proximity Read ↗

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