Mutations in COMP cause familial carpal tunnel syndrome

scientific article published on 20 July 2020

Mutations in COMP cause familial carpal tunnel syndrome is …
instance of (P31):
scholarly articleQ13442814

External links are
P819ADS bibcode2020NatCo..11.3642L
P356DOI10.1038/S41467-020-17378-Z
P698PubMed publication ID32686688

P50authorBo GaoQ59554675
Yingzi YangQ88258361
Shusen CuiQ92888493
P2093author name stringDanny Chan
Cheng Wang
Jin Wang
Alejandro A Schäffer
Zhuo Zhao
Lisa Garrett
Ni Wang
Yufa Wang
Chunyu Li
Peiqiang Su
Xilin Liu
Gene Elliott
Yueshu Wang
Nga Ting Choi
P2860cites workCarpal Tunnel SyndromeQ21710728
Prevalence and work-relatedness of carpal tunnel syndrome in the working population, United States, 2010 National Health Interview SurveyQ23921089
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneQ24337332
Cartilage oligomeric matrix protein-deficient mice have normal skeletal developmentQ24537474
Cellular and molecular mechanisms of fibrosisQ24648892
The crystal structure of a five-stranded coiled coil in COMP: a prototype ion channel?Q27733709
Strategies for multilocus linkage analysis in humansQ27860521
A somitic compartment of tendon progenitorsQ28198180
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlationsQ28215523
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissuesQ28283475
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) geneQ28293694
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasiaQ28297153
Carpal tunnel syndrome pathophysiology: role of subsynovial connective tissueQ28396501
Tendon-derived stem/progenitor cell aging: defective self-renewal and altered fateQ28582253
Prevalence of carpal tunnel syndrome in a general populationQ29615425
The unfolded protein response: controlling cell fate decisions under ER stress and beyondQ29615499
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathyQ30156928
A system for exact and approximate genetic linkage analysis of SNP data in large pedigreesQ30577869
The genetic contribution to carpal tunnel syndrome in women: a twin studyQ33845778
VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computerQ34115271
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencingQ34153640
Pseudoachondroplasia/COMP - translating from the bench to the bedsideQ34407214
Carpal tunnel syndrome: clinical features, diagnosis, and management.Q34542816
The inflammatory response to cell deathQ34718276
The quality and strength of evidence for etiology: example of carpal tunnel syndromeQ34769516
Linear regression analysis of Hospital Episode Statistics predicts a large increase in demand for elective hand surgery in EnglandQ35044968
Familial bilateral carpal tunnel syndrome: report of two familiesQ35949052
Lessons from studying monogenic disease for common diseaseQ36465168
ER-stress-induced transcriptional regulation increases protein synthesis leading to cell death.Q36954378
Familial bilateral carpal tunnel syndromeQ37009230
Familial carpal tunnel syndrome with onset in childhoodQ37034128
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutationsQ37389055
Role of the extracellular matrix in regulating stem cell fateQ38120486
Tendon and ligament regeneration and repair: clinical relevance and developmental paradigmQ38147042
Cartilage oligomeric matrix protein and its binding partners in the cartilage extracellular matrix: interaction, regulation and role in chondrogenesis.Q38226532
The integrated stress response.Q38954583
Interleukin and growth factor gene variants and risk of carpal tunnel syndromeQ39024689
Primary Familial Bilateral Carpal Tunnel SyndromeQ39209127
Identification of tendon stem/progenitor cells and the role of the extracellular matrix in their niche.Q40175991
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.Q40683341
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutationsQ43074370
N-terminal aliphatic residues dictate the structure, stability, assembly, and small molecule binding of the coiled-coil region of cartilage oligomeric matrix proteinQ43291887
Correlating ultrasound findings of carpal tunnel syndrome with nerve conduction studiesQ43971163
Bilateral carpal tunnel syndrome - A reviewQ47833950
The BGN and ACAN genes and carpal tunnel syndrome.Q48222533
Exact genetic linkage computations for general pedigreesQ48625659
Generation of transgenic tendon reporters, ScxGFP and ScxAP, using regulatory elements of the scleraxis gene.Q50683910
Avoiding recomputation in linkage analysis.Q52374502
Cartilage oligomeric matrix protein: COMPopathies and beyond.Q52659952
The COL5A1 gene is associated with increased risk of carpal tunnel syndrome.Q53838622
The thrombospondin-like chains of cartilage oligomeric matrix protein are assembled by a five-stranded alpha-helical bundle between residues 20 and 83.Q54637781
Familial carpal tunnel syndrome: further evidence for a genetic contributionQ55670645
Ultrasound features of carpal tunnel syndrome: a prospective case-control studyQ56785531
A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndromeQ64068991
The familial occurrence of carpal tunnel syndromeQ72240960
Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variantQ72776685
Assessment of the ratio of carpal contents to carpal tunnel volume in patients with carpal tunnel syndrome: a preliminary reportQ73595003
Is there a familial carpal tunnel syndrome? An evaluation and literature reviewQ77407625
Incidence of bilateral symptoms in carpal tunnel syndromeQ77577700
Autosomal dominant carpal tunnel syndromeQ77609106
Histology of the transverse carpal ligament and flexor tenosynovium in idiopathic carpal tunnel syndromeQ77665142
Carpal tunnel syndromeQ80804835
COMP acts as a catalyst in collagen fibrillogenesisQ80837951
Vascular pathologic changes in the flexor tenosynovium (subsynovial connective tissue) in idiopathic carpal tunnel syndromeQ80843421
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease groupQ81726439
Familial primary carpal tunnel syndrome with possible skipped generationQ84564280
A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred studyQ84747240
Are myofibroblasts activated in idiopathic carpal tunnel syndrome? an immunohistochemical studyQ86031677
Familial occurrence of carpal tunnel syndromeQ90939927
The Influence of Transverse Carpal Ligament Thickness on Treatment Decisions for Idiopathic Mild to Moderate Carpal Tunnel SyndromeQ93215420
P2507corrigendum / erratumAuthor Correction: Mutations in COMP cause familial carpal tunnel syndromeQ98196626
P433issue1
P921main subjectcarpal tunnel syndromeQ332293
P304page(s)3642
P577publication date2020-07-20
P1433published inNature CommunicationsQ573880
P1476titleMutations in COMP cause familial carpal tunnel syndrome
P478volume11

Search more.