Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.Q88fs
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CCNO

NM_021147.5:p.Q88fs

Associated Papers

Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation.

Khoury Damaa M et al.

Cell Reports, 2025

Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.

Rizk H et al.

Frontiers in Molecular Biosciences, 2025

41078601 (PubMed )
Supplement: DataSheet1.pdf

Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients.

Kamenarova K et al.

Scientific Reports, 2024

Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene.

Xu Y et al.

Cureus, 2024

[Primary ciliary dyskinesia caused by mutation of CCNO29 gene in a family report].

Sun XP et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024

The First Case of a Homozygous CCNO NM 021147.4 Mutation Associated With Primary Ciliary Dyskinesia in Two Indian Siblings.

Alhalabi O et al.

Cureus, 2024

Case Report: Primary ciliary dyskinesia due to CCNO mutations: a Chinese pediatric case series and literature review.

Tong L et al.

Frontiers in Pediatrics, 2024

Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia.

Petrarca L et al.

Pediatric Pulmonology, 2023

Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.

Raidt J et al.

Annals of the American Thoracic Society, 2022

35202559 (PubMed )
Supplement: raidt_data_supplement.pdf

Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China.

Li Y et al.

Bmc Pediatrics, 2022

Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.

Ma C et al.

Clinical Genetics, 2021

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

Shoemark A et al.

The European Respiratory Journal, 2021

[Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing].

Shen N et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.

Guo T et al.

Scientific Reports, 2017

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.

Shoemark A et al.

American Journal of Respiratory and Critical Care Medicine, 2017

Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.

Amirav I et al.

Human Mutation, 2016

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

Casey JP et al.

European Journal of Human Genetics : Ejhg, 2015

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.

Wallmeier J et al.

Nature Genetics, 2014

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