Cargando…

Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome

BACKGROUND: Primary ciliary dyskinesia (PCD) is a clinical syndrome characterized by cilia with an abnormal structure or function. Its main clinical manifestations comprise chronic bronchitis, cough, recurrent respiratory infections, situs inversus, and male infertility. Single-gene variants are wid...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shi, Xiao, Geng, Hao, Yu, Hui, Hu, Xiaolong, Wang, Guanxiong, Yang, Jin, Zhao, Hui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251071/ https://www.ncbi.nlm.nih.gov/pubmed/35795318 http://dx.doi.org/10.1155/2022/7130555

Ejemplares similares

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)

Lung Transplantation for Primary Ciliary Dyskinesia and Kartagener Syndrome: A Multicenter Study
por: Marro, Matteo, et al.
Publicado: (2023)

Primary ciliary dyskinesia (Siewert's / Kartagener's Syndrome): Respiratory symptoms and psycho-social impact
por: McManus, I Christopher, et al.
Publicado: (2003)

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)

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

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

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

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)

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia
por: Horani, Amjad, et al.
Publicado: (2013)

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

Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism
por: Sha, Yan-Wei, et al.
Publicado: (2014)

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)

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

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

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

Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome
por: Huang, Chuan, 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)

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)

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

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)

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome
por: Deng, Sheng, et al.
Publicado: (2020)

Case Report: Novel Biallelic Mutations in ARMC4 Cause Primary Ciliary Dyskinesia and Male Infertility in a Chinese Family
por: Gao, Yang, et al.
Publicado: (2021)

Diagnosis and management of primary ciliary dyskinesia
por: Lucas, Jane S, et al.
Publicado: (2014)

Diagnosis and management of primary ciliary dyskinesia
por: Werner, Claudius, et al.
Publicado: (2015)

Primary ciliary dyskinesia: mechanisms and management
por: Damseh, Nadirah, et al.
Publicado: (2017)

Mucus Plugging in Primary Ciliary Dyskinesia
por: Adaikalam, Stephanie, et al.
Publicado: (2023)

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia
por: Anderegg, Linda, et al.
Publicado: (2019)

Towards gene therapy for primary ciliary dyskinesia
por: Munye, M, et al.
Publicado: (2012)

Accuracy of diagnostic testing in primary ciliary dyskinesia
por: Jackson, Claire L., et al.
Publicado: (2016)

Recent advances in primary ciliary dyskinesia genetics
por: Kurkowiak, Małgorzata, et al.
Publicado: (2015)

Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis
por: Suzaki, Isao, et al.
Publicado: (2020)

The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia
por: Shoemark, Amelia, et al.
Publicado: (2020)

Management of a child with primary ciliary dyskinesia
por: Kumar, Aneeta, et al.
Publicado: (2020)

Respiratory Distress in the Newborn with Primary Ciliary Dyskinesia
por: Machogu, Evans, et al.
Publicado: (2021)

Current and Future Treatments in Primary Ciliary Dyskinesia
por: Paff, Tamara, et al.
Publicado: (2021)

A Study on the Genetics of Primary Ciliary Dyskinesia
por: Alsamri, Mohammed T., et al.
Publicado: (2021)

The Genetics of Primary Ciliary Dyskinesia in Puerto Rico
por: De Jesús-Rojas, Wilfredo, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_2d7s2s02id5rq5ftdj4j303t27