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

Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population

10 Jul 2024

Abstract excerpt

Introduction: Primary ciliary dyskinesia (PCD) is caused by the dysfunction of motile cilia resulting in insufficient mucociliary clearance of the lungs. This study aimed to map novel PCD variants and determine their pathogenicity in PCD patients in Kuwait. Methods: Herein, we present five PCD individuals belonging to a cohort of 105 PCD individuals recruited from different hospitals in Kuwait. Genomic DNAs from...

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis Research Advances
Share to Neonatal Respiratory Health Research
Share to Tracheal and airway disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39045318
DOI: 10.3389/fgene.2024.1396797

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

Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab populationPMID 39045318Read ↗

Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study.Semantic proximity Read ↗

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variantsSemantic proximity Read ↗

Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian PeninsulaSemantic proximity Read ↗

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar.Semantic proximity Read ↗

A Study on the Genetics of Primary Ciliary DyskinesiaSemantic proximity Read ↗

Variation in DNAH1 may contribute to primary ciliary dyskinesia.Semantic proximity Read ↗

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.Semantic proximity Read ↗

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.Semantic proximity Read ↗

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.Semantic proximity Read ↗

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.Semantic proximity Read ↗

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel mutation of DNAAF2Semantic proximity Read ↗

Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report.Semantic proximity Read ↗

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