Condition: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
rs121912637 in
TRPV4 gene and
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
PMID 21573172 2011 Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations.
PMID 20577006 2010 Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
PMID 19232556 2009 Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
PMID 26249260 2015 A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
PMID 26170305 2015 A channelopathy mechanism revealed by direct calmodulin activation of TrpV4.
PMID 21658220 2011 TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
PMID 20503319 2010 Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
PMID 20425821 2010 Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
PMID 27066566 2015 Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.
PMID 21454511 2011 Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.
PMID 21115951 2010 CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.
PMID 20460441 2010 Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
PMID 20037586 2010 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
PMID 21288981 2011 TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
PMID 20037587 2010 Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
PMID 22702953 2012 Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
PMID 20037588 2010 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
PMID 15668982 2005 Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24.
PMID 22065612 2011 Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.
PMID 25256292 2014 TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂.
PMID 25900305 2015 Phenotypic variability of TRPV4 related neuropathies.
PMID 24575025 2014 Essential Tremor in a Charcot-Marie-Tooth Type 2C Kindred Does Not Segregate with the TRPV4 R269H Mutation.
PMID 21336783 2011 Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
PMID 24789864 2014 Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
PMID 24319099 2014 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
PMID 26110311 2015 Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.
PMID 26948711 2017 TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.
PMID 24963089 2014 Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.
PMID 27751652 2016 A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.
PMID 22419508 2012 TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.
PMID 26048687 2015 Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.
PMID 22526352 2012 TRPV4 mutations in children with congenital distal spinal muscular atrophy.
PMID 21288981 2011 The R316H is a novel de novo mutation found in a patient with CMT2C phenotype.
PMID 22675077 2012 Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
PMID 27549087 2016 Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.