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UnknownCMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.
Not available
S-EPMC3014233 | biostudies-literature
TranscriptomicsGene expression profile of TGFβ3 stimulation and TRPV4 activation/inhibition in the TC28a2 human chondrocyte cell line
RNA-seq of TC28a2 cells following TRPV4 activation/inhibition in the presence and absence of prior TGFβ3 stimulation. The experiment was performed to determine the effect of TRPV4 activity on gene expression in the presence and absence of TGFβ stimulation. TGFβ3 was used to stimulate TGFβ signalling...
ORGANISM(S): Homo sapiens 
2022-01-17 | E-MTAB-10279 | biostudies-arrayexpress
UnknownExome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
Not available
S-EPMC3390542 | biostudies-literature
UnknownMutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Not available
S-EPMC2812627 | biostudies-literature
UnknownTRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
Not available
S-EPMC3059145 | biostudies-literature
UnknownA TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.
Not available
S-EPMC10311707 | biostudies-literature
UnknownNovel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.
Not available
S-EPMC4811381 | biostudies-literature
UnknownLysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2.
Not available
S-EPMC6726396 | biostudies-literature
UnknownCharcot-Marie-Tooth disease: New insights from skin biopsy.
Not available
S-EPMC4607598 | biostudies-literature
ProteomicsHuman TRPV4 LC-MS protein interactor screen
TRPV4 is a cell surface-expressed calcium-permeable cation channel that mediates cell-specific effects on cellular morphology and function. Dominant missense mutations of TRPV4 cause various forms of inherited neuropathy, but the pathogenic mechanisms are unknown. Using an unbiased screen, we sought...
ORGANISM(S): Homo sapiens (Human) 
2021-01-29 | PXD023758 | Pride
Cmt2c Trpv4 Hek-293t 
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