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

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

Orphanet journal of rare diseases - 23 Aug 2024

Zlotina Anna, Barashkova Svetlana, Zhuk Sergey, Skitchenko Rostislav, Usoltsev Dmitrii, Sokolnikova Polina, Artomov Mykyta, Alekseenko Svetlana, Simanova Tatiana, Goloborodko Maria, Berleva Olga, Kostareva Anna

Abstract excerpt

BACKGROUND: Primary ciliary dyskinesia (PCD) is a group of rare genetically heterogeneous disorders caused by defective cilia and flagella motility. The clinical phenotype of PCD patients commonly includes chronic oto-sino-pulmonary disease, infertility, and, in about half of cases, laterality defects due to randomization of left-right body asymmetry. To date, pathogenic variants in more than 50 genes responsible...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Axonemal Dyneins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Ciliary Motility Disorders

Share to Kartagener Syndrome

Share to Russia

Source

Open in PubMed Open full text

Identifiers

PMID: 39180133
DOI: 10.1186/s13023-024-03318-3
PMCID: PMC11344339

Genes

DNAH5
HYDIN
ZMYND10
CFAP300
DNAH11
DNAL1
ODAD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.PMID 39180133Read ↗

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 ↗

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

Considerable variability in the clinical and ciliary features of primary ciliary dyskinesia in patients with DNAH5 mutationsSemantic proximity Read ↗

Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey.Semantic proximity Read ↗

Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.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 ↗

Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan.Semantic proximity Read ↗

Recent advances in primary ciliary dyskinesia geneticsSemantic proximity Read ↗

Novel Gene Variants Associated with Primary Ciliary Dyskinesia.Semantic proximity Read ↗

Next-Generation Sequencing-Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed Novel DNAH5 Copy Number VariationsSemantic proximity Read ↗

Ciliary defects and genetics of primary ciliary dyskinesia.Semantic proximity Read ↗

Characterization of a DRC1 null variant associated to primary ciliary dyskinesia and female infertilitySemantic proximity Read ↗

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