Cargando…

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by impaired ciliary function, leading to chronic sinopulmonary disease. The genetic causes of PCD are still evolving, while the diagnosis is often dependent on finding a ciliary ultrastructural abnormality and immotile...

Descripción completa

Detalles Bibliográficos
Autores principales:	Horani, Amjad, Brody, Steven L., Ferkol, Thomas W., Shoseyov, David, Wasserman, Mollie G., Ta-shma, Asaf, Wilson, Kate S., Bayly, Philip V., Amirav, Israel, Cohen-Cymberknoh, Malena, Dutcher, Susan K., Elpeleg, Orly, Kerem, Eitan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3753302/ https://www.ncbi.nlm.nih.gov/pubmed/23991085 http://dx.doi.org/10.1371/journal.pone.0072299

Ejemplares similares

LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects
por: Horani, Amjad, et al.
Publicado: (2013)

Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia
por: Gileles-Hillel, Alex, et al.
Publicado: (2020)

Picking up speed: advances in the genetics of primary ciliary dyskinesia
por: Horani, Amjad, et al.
Publicado: (2013)

HY-DIN’ in the Cilia: Discovery of Central Pair–related Mutations in Primary Ciliary Dyskinesia
por: Dutcher, Susan K., et al.
Publicado: (2020)

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151
por: Onoufriadis, A, et al.
Publicado: (2015)

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
por: Legendre, M, et al.
Publicado: (2012)

Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation
por: Antony, D, et al.
Publicado: (2012)

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
por: Panizzi, Jennifer R., et al.
Publicado: (2012)

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities
por: Amirav, Israel, et al.
Publicado: (2016)

Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia
por: Brennan, Steven K, et al.
Publicado: (2021)

Primary ciliary dyskinesia due to DRC1/CCDC164 gene mutation
por: Benjamin, Antony Terance, et al.
Publicado: (2020)

Zebrafish Motile Cilia as a Model for Primary Ciliary Dyskinesia
por: Pinto, Andreia L., et al.
Publicado: (2021)

Cilia Ultrastructure Associated with Primary Ciliary Dyskinesia in Omani Patients
por: Al Adawi, Kawther, et al.
Publicado: (2023)

Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome
por: Shi, Xiao, et al.
Publicado: (2022)

Ciliary Feature Counter: A program for the Quantitative Assessment of Cilia to Diagnose Primary Ciliary Dyskinesia
por: Pinto, Andreia L., et al.
Publicado: (2020)

Lung function from school age to adulthood in primary ciliary dyskinesia
por: Halbeisen, Florian S., et al.
Publicado: (2022)

Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD)
por: Robson, E, et al.
Publicado: (2015)

Functional loss of Ccdc151 leads to hydrocephalus in a mouse model of primary ciliary dyskinesia
por: Chiani, Francesco, et al.
Publicado: (2019)

CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia
por: Liu, Li, et al.
Publicado: (2021)

Novel compound heterozygous CCDC40 mutations in a familial case of primary ciliary dyskinesia
por: Zhao, Liqing, et al.
Publicado: (2022)

Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation
por: Kos, Renate, et al.
Publicado: (2022)

Limitations of Nasal Nitric Oxide Testing in Primary Ciliary Dyskinesia
por: Shapiro, Adam J., et al.
Publicado: (2020)

Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder
por: Praveen, Kavita, et al.
Publicado: (2015)

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes
por: Horani, Amjad, et al.
Publicado: (2023)

Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective
por: O’Connor, Michael Glenn, et al.
Publicado: (2021)

High-Speed Videomicroscopy Analysis Presents Limitations in Diagnosis of Primary Ciliary Dyskinesia
por: Shapiro, Adam J., et al.
Publicado: (2020)

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
por: Hjeij, Rim, et al.
Publicado: (2014)

Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia
por: Alsaadi, Muslim M, et al.
Publicado: (2014)

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients
por: Morimoto, Kozo, et al.
Publicado: (2019)

Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella
por: Xu, Yingjie, et al.
Publicado: (2022)

Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia
por: Shin, Jun Hee, et al.
Publicado: (2022)

A human laterality disorder associated with a homozygous WDR16 deletion
por: Ta-Shma, Asaf, et al.
Publicado: (2015)

Translation of the quality of life questionnaire for primary ciliary dyskinesia (QOL‐PCD) into Hebrew: The Israeli experience
por: Amirav, Israel, et al.
Publicado: (2022)

Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus
por: Cannarella, Rossella, et al.
Publicado: (2020)

Diagnosis of primary ciliary dyskinesia
por: Olm, Mary Anne Kowal, et al.
Publicado: (2015)

Perspectives for Primary Ciliary Dyskinesia
por: Bukowy-Bieryllo, Zuzanna, et al.
Publicado: (2022)

Frequenting Sequencing: How Genetics Teaches Us Cilia Biology
por: Horani, Amjad, et al.
Publicado: (2019)

CCDC61/VFL3 Is a Paralog of SAS6 and Promotes Ciliary Functions
por: Ochi, Takashi, et al.
Publicado: (2020)

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients
por: Ziętkiewicz, Ewa, et al.
Publicado: (2012)

An international survey on nasal nitric oxide measurement practices for the diagnosis of primary ciliary dyskinesia
por: Beydon, Nicole, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_5mspjes2km48i8ah582nad39q0