Cargando…

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2

Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W)...

Descripción completa

Detalles Bibliográficos
Autores principales:	Deng, Hao, He, Dan, Rong, Pengfei, Xu, Hongbo, Yuan, Lamei, Li, Liu, Lu, Qian, Guo, Yi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955969/ https://www.ncbi.nlm.nih.gov/pubmed/27325559 http://dx.doi.org/10.1177/1744806916652628

Ejemplares similares

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
por: Piret, Sian E., et al.
Publicado: (2016)

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
por: Kang, Sol, et al.
Publicado: (2019)

Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
por: Kim, Seon Young, et al.
Publicado: (2018)

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
por: Okamoto, Nana, et al.
Publicado: (2017)

A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series
por: Rashid, Ban Mousa, et al.
Publicado: (2013)

Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2
por: Capulli, Mattia, et al.
Publicado: (2015)

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
por: Wang, Xia, et al.
Publicado: (2023)

Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7
por: Chen, Xiang, et al.
Publicado: (2016)

Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report
por: Song, Xiu-Li, et al.
Publicado: (2022)

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
por: Chorin, Odelia, et al.
Publicado: (2020)

Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications
por: Maurizi, Antonio, et al.
Publicado: (2019)

A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene
por: Hofstaetter, Jochen G., et al.
Publicado: (2022)

Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis
por: Bug, Dmitrii S., et al.
Publicado: (2020)

Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report
por: Gong, Hong-Ping, et al.
Publicado: (2023)

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I
por: Wang, Mingyuan, et al.
Publicado: (2019)

Autosomal Dominant Type I Osteopetrosis Is Related with Iatrogenic Fractures in Arthroplasty
por: van Hove, Ruud P., et al.
Publicado: (2014)

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing
por: Deng, Sheng, et al.
Publicado: (2016)

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease
por: Yu, Chaowen, et al.
Publicado: (2011)

Periodontal profile and radiographic characterization of the jaws in a patient with autosomal dominant osteopetrosis
por: da Silva Barbirato, Davi, et al.
Publicado: (2017)

Identifying a BRCA2 c.5722_5723del mutation in a Han-Chinese family with breast cancer
por: Guo, Yi, et al.
Publicado: (2019)

Autosomal recessive osteopetrosis: mechanisms and treatments
por: Penna, Sara, et al.
Publicado: (2021)

Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report
por: Kant, Priyanka, et al.
Publicado: (2013)

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis
por: Liang, Huanhuan, et al.
Publicado: (2021)

Complex Segregation Analysis Provides Evidence for Autosomal Dominant Transmission in the Chinese Han Families with Ankylosing Spondylitis
por: Jiang, Yutong, et al.
Publicado: (2017)

Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study
por: Wang, Ziyuan, et al.
Publicado: (2022)

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
por: Miryounesi, Mohammad, et al.
Publicado: (2016)

Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I
por: Pangrazio, Alessandra, et al.
Publicado: (2011)

Intramedullary nailing for subtrochanteric fracture in autosomal dominant Type II osteopetrosis: Case report of 2 patients
por: Kim, Junyoung, et al.
Publicado: (2020)

Multiomics landscape of the autosomal dominant osteopetrosis type II disease-specific induced pluripotent stem cells
por: Li, Chunhong, et al.
Publicado: (2021)

Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy
por: Wu, Yuan, et al.
Publicado: (2018)

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family
por: Huang, Yanxia, et al.
Publicado: (2021)

Intermediate Autosomal Recessive Osteopetrosis With an Unusual Absence of Fractures
por: Ishaque, Ali, et al.
Publicado: (2022)

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

SUN-532 Interferon Gamma-1b Does Not Increase Markers of Bone Resorption in Autosomal Dominant Osteopetrosis
por: Imel, Erik, et al.
Publicado: (2019)

Total hip arthroplasty for the treatment of a hip disorder complicated by autosomal dominant osteopetrosis: a case report
por: Wei, Congcong, et al.
Publicado: (2023)

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing
por: Li, Shan, et al.
Publicado: (2019)

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1
por: Hu, Pengzhi, et al.
Publicado: (2017)

A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient
por: Miao, Jing, et al.
Publicado: (2018)

Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease
por: Xiang, Qin, et al.
Publicado: (2019)

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report
por: Mistri, Mehul, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_9anrp9v41ips0c6fu86kees74q