Associated Papers
The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.
Lyu B et al.
Cell Calcium, 2026
Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice.
Nevarez L et al.
Jci Insight, 2026
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.
Dong L et al.
Clinical Genetics, 2025
The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.
Robles-Espinoza K et al.
International Journal of Molecular Sciences, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
The impact of TRPV4 pathogenic mutations on barrier integrity.
Sampaio G et al.
Human Molecular Genetics, 2025
Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.
Güneş N et al.
Pediatric Radiology, 2025
Roles for TRPV4 in disease: A discussion of possible mechanisms.
Hernández-Vega AM et al.
Cell Calcium, 2024
Human TRPV4 engineering yields an ultrasound-sensitive actuator for sonogenetics.
Zhao L et al.
Biorxiv : the Preprint Server for Biology, 2024
Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report.
Lugo E et al.
Cureus, 2023
A 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.
Chen H et al.
Bmc Neurology, 2023
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.
Uzman CY et al.
Skeletal Radiology, 2023
Diversity in heritable disorders of connective tissue at a single center.
Hsu RH et al.
Connective Tissue Research, 2021
Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy.
Jack CF et al.
Pediatric Radiology, 2021
Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Nguyen DB et al.
American Journal of Medical Genetics. Part A, 2021
Mild metatropic dysplasia: emphasis on the magnetic resonance imaging of articular cartilage thickening.
Hamabe F et al.
Bjr Case Reports, 2021
TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel.
Toft-Bertelsen TL et al.
Cells, 2021
CRISPR/Cas9 gene editing of a SOX9 reporter human iPSC line to produce two TRPV4 patient heterozygous missense mutant iPSC lines, MCRIi001-A-3 (TRPV4 p.F273L) and MCRIi001-A-4 (TRPV4 p.P799L).
Nur Patria Y et al.
Stem Cell Research, 2020
Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report.
Tchio Tchoumba MA et al.
Orthopaedic Surgery, 2020
Novel gain-of-function mutation of TRPV4 associated with accelerated chondrogenic differentiation of dental pulp stem cells derived from a patient with metatropic dysplasia.
Nonaka K et al.
Biochemistry and Biophysics Reports, 2019
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?
Damseh N et al.
Orphanet Journal of Rare Diseases, 2019
The Crossroad of Ion Channels and Calmodulin in Disease.
Urrutia J et al.
International Journal of Molecular Sciences, 2019
Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones.
Z G et al.
Balkan Journal of Medical Genetics : Bjmg, 2018
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
Hurd L et al.
American Journal of Medical Genetics. Part A, 2015
A channelopathy mechanism revealed by direct calmodulin activation of TrpV4.
Loukin SH et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.
Kang SS et al.
Experimental & Molecular Medicine, 2012
TRPV4-associated skeletal dysplasias.
Nishimura G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Fiorillo C et al.
Neurogenetics, 2012
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Lamandé SR et al.
Nature Genetics, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Andreucci E et al.
Orphanet Journal of Rare Diseases, 2011
Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations.
Loukin S et al.
Plos One, 2011
Transient receptor potential genes and human inherited disease.
Everett KV
Advances in Experimental Medicine and Biology, 2011
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.
Chen DH et al.
Neurology, 2010
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
Dai J et al.
Journal of Medical Genetics, 2010
The vanilloid transient receptor potential channel TRPV4: from structure to disease.
Everaerts W et al.
Progress in Biophysics and Molecular Biology, 2010
TRPV4-pathy, a novel channelopathy affecting diverse systems.
Dai J et al.
Journal of Human Genetics, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Zimoń M et al.
Brain : a Journal of Neurology, 2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G et al.
American Journal of Medical Genetics. Part A, 2010
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
Camacho N et al.
American Journal of Medical Genetics. Part A, 2010
[Case of muscular atrophy in scapuloperoneal syndrome].
Nagatani M et al.
Naika. Internal Medicine, 1967
[CASE OF CHARCOT-MARIE MUSCULAR ATROPHY IN A FAMILY FROM VALAIS].
LORENZ J
Journal De Genetique Humaine, 1964
Scapuloperoneal muscular atrophy: Davidenkow's syndrome. Family report.
Milanov I et al.
Electromyography and Clinical Neurophysiology, 0