Cargando…

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been...

Descripción completa

Detalles Bibliográficos
Autores principales:	Deng, Sheng, Wu, Shan, Xia, Hong, Xiong, Wei, Deng, Xiong, Liao, Junxi, Deng, Hao, Yuan, Lamei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2020
Materias:	Mutation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298131/ https://www.ncbi.nlm.nih.gov/pubmed/32490514 http://dx.doi.org/10.1042/BSR20192510

Ejemplares similares

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
por: Yuan, Zhuang-Zhuang, et al.
Publicado: (2020)

Reply to comments on: “Obesity associated with a novel mitochondrial tRNA(Cys) 5802A>G mutation in a Chinese family”
por: Wang, Jinling, et al.
Publicado: (2020)

Mitochondrial tRNA mutations in Chinese children with tic disorders
por: Jiang, Peifang, et al.
Publicado: (2020)

Congenital Insensitivity to Pain: Novel SCN9A Missense and In-Frame Deletion Mutations
por: Cox, James J, et al.
Publicado: (2010)

The association between Interleukin-6 rs1800795/rs1800797 polymorphisms and risk of rotator cuff tear in a Chinese population
por: Li, Jin, et al.
Publicado: (2020)

Identification of compound heterozygous DNAH11 variants in a Han‐Chinese family with primary ciliary dyskinesia
por: Xiong, Ying, et al.
Publicado: (2021)

A Novel CRYGD Mutation (p.Trp43Arg) Causing Autosomal Dominant Congenital Cataract in a Chinese Family
por: Wang, Binbin, et al.
Publicado: (2011)

Role of matrix metalloproteases 1/3 gene polymorphisms in patients with rotator cuff tear
por: Miao, Kaisong, et al.
Publicado: (2019)

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes
por: Button, Emily L., et al.
Publicado: (2022)

Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome
por: Kapuganti, Ramani Shyam, et al.
Publicado: (2023)

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females
por: Depienne, Christel, et al.
Publicado: (2011)

A Japanese case of familial hypercholesterolemia with a novel mutation in the LDLR gene
por: Nagahara, Keiko, et al.
Publicado: (2019)

A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3
por: Nagahara, Keiko, et al.
Publicado: (2016)

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome
por: Huang, Xiangjun, et al.
Publicado: (2019)

A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone
por: Ito, Jumpei, et al.
Publicado: (2016)

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2
por: Fukuma, Mami, et al.
Publicado: (2018)

A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1
por: Higuchi, Shinji, et al.
Publicado: (2016)

A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1
por: Nishizaki, Yoshimi, et al.
Publicado: (2016)

Legius Syndrome in Fourteen Families
por: Denayer, Ellen, et al.
Publicado: (2011)

The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family
por: Hilhorst-Hofstee, Yvonne, et al.
Publicado: (2010)

Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene
por: Hasegawa, Kosei, et al.
Publicado: (2015)

A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
por: Itoh, Masatsune, et al.
Publicado: (2016)

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

Identification of DNAH17 Variants in Han-Chinese Patients With Left–Right Asymmetry Disorders
por: Yu, Xuehui, et al.
Publicado: (2022)

Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson’s disease
por: Yuan, Lamei, et al.
Publicado: (2016)

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

Lack of association between methylenetetrahydrofolate reductase gene variants & essential tremor in Han Chinese
por: He, Dan, et al.
Publicado: (2019)

Mutation update for the ACTN2 gene
por: Ranta‐aho, Johanna, et al.
Publicado: (2022)

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
por: Gilbert, Melissa A., et al.
Publicado: (2019)

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
por: Bannwarth, Sylvie, et al.
Publicado: (2013)

A mutation update for the FLNC gene in myopathies and cardiomyopathies
por: Verdonschot, Job A. J., et al.
Publicado: (2020)

Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update
por: Nuytemans, Karen, et al.
Publicado: (2010)

Transcriptional and Translational Effects of Intronic CAPN3 Gene Mutations
por: Nascimbeni, Anna Chiara, et al.
Publicado: (2010)

GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders
por: Lemos, Manuel C, et al.
Publicado: (2015)

Evaluation of Germline BMP4 Mutation as a Cause of Colorectal Cancer
por: Lubbe, Steven J, et al.
Publicado: (2011)

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
por: Barragán, Isabel, et al.
Publicado: (2010)

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update
por: Dhekne, Herschel S., et al.
Publicado: (2018)

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease
por: Tappino, Barbara, et al.
Publicado: (2010)

A Novel Mutation of Androgen Receptor Gene in Complete Androgen Insensitivity Syndrome
por: Narumi, Satoshi, et al.
Publicado: (2007)

KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation
por: Yamamoto, Kaoru, et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_bt25hdob20k94qb8vfgp3r66pd