Cargando…

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early-onset osteoarthritis. COMP encodes the cartilage oligomeric matrix protein, which is expres...

Descripción completa

Detalles Bibliográficos
Autores principales:	Guo, Bing-Bing, Jin, Jie-Yuan, Yuan, Zhuang-Zhuang, Zeng, Lei, Xiang, Rong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960025/ https://www.ncbi.nlm.nih.gov/pubmed/33748277 http://dx.doi.org/10.1155/2021/6678531

Ejemplares similares

A novel COMP mutation in a pseudoachondroplasia family of Chinese origin
por: Dai, Li, et al.
Publicado: (2011)

A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia
por: Chen, Jun, et al.
Publicado: (2018)

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
por: Ichihashi, Yosuke, et al.
Publicado: (2018)

Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation
por: Gu, Chongjuan, et al.
Publicado: (2017)

A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia
por: Luo, Huaichao, et al.
Publicado: (2016)

Pseudoachondroplasia/COMP — translating from the bench to the bedside
por: Posey, Karen LaShea, et al.
Publicado: (2014)

Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation
por: Ideta, Hirokazu, et al.
Publicado: (2017)

A Novel Form of Chondrocyte Stress is Triggered by a COMP Mutation Causing Pseudoachondroplasia
por: Suleman, Farhana, et al.
Publicado: (2012)

Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods
por: Hasegawa, Kosei, et al.
Publicado: (2023)

Orthopaedic manifestations of pseudoachondroplasia
por: Weiner, D. S., et al.
Publicado: (2019)

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
por: Jin, Jie-Yuan, et al.
Publicado: (2021)

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia
por: Shao, Jiashen, et al.
Publicado: (2020)

Pseudoachondroplasia: A rare cause of rhizomelic dwarfism
por: Tandon, Anupama, et al.
Publicado: (2008)

Novel CHM mutations identified in Chinese families with Choroideremia
por: Cai, Xue-Bi, et al.
Publicado: (2016)

Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family
por: Jin, Jie-Yuan, et al.
Publicado: (2021)

Mutations in COMP cause familial carpal tunnel syndrome
por: Li, Chunyu, et al.
Publicado: (2020)

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution
por: Jackson, Gail C, et al.
Publicado: (2012)

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

Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block
por: Dong, Yi, et al.
Publicado: (2021)

Novel mutations in HSF4 cause congenital cataracts in Chinese families
por: Cao, Zongfu, et al.
Publicado: (2018)

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report
por: Pálla, Sára, et al.
Publicado: (2023)

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
por: Deng, Hao, et al.
Publicado: (2016)

Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion–deletion mutation
por: Zhu, Lude, et al.
Publicado: (2016)

Author Correction: Mutations in COMP cause familial carpal tunnel syndrome
por: Li, Chunyu, et al.
Publicado: (2020)

A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia
por: Piróg, Katarzyna A., et al.
Publicado: (2010)

Joint Degeneration in a Mouse Model of Pseudoachondroplasia: ER Stress, Inflammation, and Block of Autophagy
por: Hecht, Jacqueline T., et al.
Publicado: (2021)

Shoulder arthroplasty in dwarfism: A case report of pseudoachondroplasia with 17-year follow-up
por: Gasbarro, Gregory, et al.
Publicado: (2021)

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene
por: Hou, Xiaocan, et al.
Publicado: (2018)

AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis
por: Li, Wei, et al.
Publicado: (2016)

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D
por: Jin, Jie-Yuan, et al.
Publicado: (2020)

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy
por: Huang, Xiao-Yan, et al.
Publicado: (2017)

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified
por: Xiao, Zhongyan, et al.
Publicado: (2021)

Early Resveratrol Treatment Mitigates Joint Degeneration and Dampens Pain in a Mouse Model of Pseudoachondroplasia (PSACH)
por: Hecht, Jacqueline T., et al.
Publicado: (2023)

Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing
por: Zhang, Jie, et al.
Publicado: (2021)

GeneComps and ChemComps: a new CTD metric to identify genes and chemicals with shared toxicogenomic profiles
por: Davis, Allan Peter, et al.
Publicado: (2009)

RNAMotifComp: a comprehensive method to analyze and identify structurally similar RNA motif families
por: Rahaman, Md Mahfuzur, et al.
Publicado: (2023)

A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing
por: Xiu, Xiaofei, et al.
Publicado: (2014)

A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel’s deformity
por: Guo, Shuai, et al.
Publicado: (2018)

A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels
por: Wang, Chen-Yu, et al.
Publicado: (2020)

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family
por: Jin, Jie-Yuan, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_5h41gmg34kh5v5tp9ggld2ne0u