Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. Neuron (2010) 3.31

International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family. Pharmacol Rev (2010) 2.66

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology (2012) 2.56

Transient receptor potential channels as therapeutic targets. Nat Rev Drug Discov (2011) 2.25

The transient receptor potential family of ion channels. Genome Biol (2011) 2.08

TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis. Cell (2012) 2.03

Inhibition of the cation channel TRPV4 improves bladder function in mice and rats with cyclophosphamide-induced cystitis. Proc Natl Acad Sci U S A (2010) 1.96

100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future. Nat Rev Neurosci (2010) 1.76

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TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. Neurology (2011) 1.56

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain (2010) 1.51

TRP channels in lower urinary tract dysfunction. Br J Pharmacol (2014) 1.48

Transient receptor potential channelopathies. Pflugers Arch (2010) 1.40

Pain as a channelopathy. J Clin Invest (2010) 1.33

The puzzle of TRPV4 channelopathies. EMBO Rep (2013) 1.33

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology (2010) 1.26

Transient receptor potential (TRP) channels: a clinical perspective. Br J Pharmacol (2014) 1.25

Neuronal store-operated calcium entry pathway as a novel therapeutic target for Huntington's disease treatment. Chem Biol (2011) 1.25

Transient receptor potential (TRP) channels as drug targets for diseases of the digestive system. Pharmacol Ther (2011) 1.24

TRPV channels and vascular function. Acta Physiol (Oxf) (2010) 1.16

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. PLoS Genet (2010) 1.15

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology (2012) 1.14

Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations. PLoS One (2011) 1.13

Pain channelopathies. J Physiol (2010) 1.09

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain (2014) 1.09

Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet (2011) 1.07

Channelopathies converge on TRPV4. Nat Genet (2010) 1.06

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. PLoS One (2011) 1.05

Inherited neuropathies: clinical overview and update. Muscle Nerve (2013) 1.05

Inherited peripheral neuropathies. Neurol Clin (2013) 1.04

Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. Biochemistry (2012) 0.97

Molecular genetics of charcot-marie-tooth disease: from genes to genomes. Mol Syndromol (2012) 0.97

The history of TRP channels, a commentary and reflection. Pflugers Arch (2011) 0.96

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. J Neurol (2011) 0.93

Genetic testing in renal disease. Pediatr Nephrol (2011) 0.93

Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies. J Biol Chem (2011) 0.92

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation. Exp Mol Med (2012) 0.89

Inherited neuropathies. Semin Neurol (2012) 0.89

Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. Exp Neurol (2014) 0.89

Identification of drug modulators targeting gene-dosage disease CMT1A. ACS Chem Biol (2012) 0.87

Structural biology of TRP channels. Handb Exp Pharmacol (2014) 0.87

Structural biology of TRP channels. Adv Exp Med Biol (2011) 0.87

Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth. J Biol Chem (2011) 0.87

Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cells. PLoS One (2010) 0.86

Characterization of functional TRPV1 channels in the sarcoplasmic reticulum of mouse skeletal muscle. PLoS One (2013) 0.86

Genetic neurological channelopathies: molecular genetics and clinical phenotypes. J Neurol Neurosurg Psychiatry (2015) 0.85

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis (2011) 0.85

4α-phorbol 12,13-didecanoate activates cultured mouse dorsal root ganglia neurons independently of TRPV4. Br J Pharmacol (2013) 0.84

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain (2014) 0.83

Phenotypic variability of TRPV4 related neuropathies. Neuromuscul Disord (2015) 0.82

Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. J Bone Miner Res (2014) 0.82

Functional and structural studies of TRP channels heterologously expressed in budding yeast. Adv Exp Med Biol (2011) 0.81

TRPV4 mutations in children with congenital distal spinal muscular atrophy. Neurogenetics (2012) 0.81

Charcot-Marie-Tooth disease and intracellular traffic. Prog Neurobiol (2012) 0.81

Transient receptor potential channel C5 in cancer chemoresistance. Acta Pharmacol Sin (2015) 0.80

Physiological and pathological functions of mechanosensitive ion channels. Mol Neurobiol (2014) 0.80

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. Neurol Genet (2015) 0.80

TRP Channels in Skin Biology and Pathophysiology. Pharmaceuticals (Basel) (2016) 0.79

A combined coarse-grained and all-atom simulation of TRPV1 channel gating and heat activation. J Gen Physiol (2015) 0.79

Crystal structure of the N-terminal ankyrin repeat domain of TRPV3 reveals unique conformation of finger 3 loop critical for channel function. Protein Cell (2013) 0.79

Role of local vitamin D signaling and cellular calcium transport system in bone homeostasis. J Bone Miner Metab (2013) 0.79

Nerve Growth Factor Regulates Transient Receptor Potential Vanilloid 2 via Extracellular Signal-Regulated Kinase Signaling To Enhance Neurite Outgrowth in Developing Neurons. Mol Cell Biol (2015) 0.78

Sensitisation of TRPV4 by PAR2 is independent of intracellular calcium signalling and can be mediated by the biased agonist neutrophil elastase. Pflugers Arch (2014) 0.78

Evolutionary dynamics of metazoan TRP channels. Pflugers Arch (2015) 0.78

TRPing on the pore phenomenon: what do we know about transient receptor potential ion channel-related pore dilation up to now? J Bioenerg Biomembr (2016) 0.77

TRPV4 activation at the physiological temperature is a critical determinant of neuronal excitability and behavior. Pflugers Arch (2015) 0.77

Activation of Transient Receptor Potential Vanilloid 4 Promotes the Proliferation of Stem Cells in the Adult Hippocampal Dentate Gyrus. Mol Neurobiol (2016) 0.76

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. Am J Med Genet A (2016) 0.75

Don't change that (calcium) channel: mutations in the same calcium channel gene can cause multiple distinct phenotypes. Clin Genet (2010) 0.75

Toward elucidating the heat activation mechanism of the TRPV1 channel gating by molecular dynamics simulation. Proteins (2016) 0.75

Why individual thermo sensation and pain perception varies? Clue of disruptive mutations in TRPVs from 2504 human genome data. Channels (Austin) (2016) 0.75

Genes, molecules and patients--emerging topics to guide clinical pain research. Eur J Pharmacol (2013) 0.75

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. J Neurol (2015) 0.75

Constitutive calcium entry and cancer: updated views and insights. Eur Biophys J (2017) 0.75

Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet (1996) 39.80

Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet (1974) 5.80

Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor. Cell (2000) 5.73

Heat-evoked activation of the ion channel, TRPV4. J Neurosci (2002) 4.69

Anandamide and arachidonic acid use epoxyeicosatrienoic acids to activate TRPV4 channels. Nature (2003) 4.45

Impaired pressure sensation in mice lacking TRPV4. J Biol Chem (2003) 3.59

The ankyrin repeats of TRPV1 bind multiple ligands and modulate channel sensitivity. Neuron (2007) 3.48

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees. Hum Hered (2001) 3.32

Activation of TRPV4 channels (hVRL-2/mTRP12) by phorbol derivatives. J Biol Chem (2002) 3.14

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest (2007) 3.11

Cell swelling, heat, and chemical agonists use distinct pathways for the activation of the cation channel TRPV4. Proc Natl Acad Sci U S A (2003) 2.95

Calcium and neurodegeneration. Aging Cell (2007) 2.90

Hypotonicity induces TRPV4-mediated nociception in rat. Neuron (2003) 2.43

Molecular determinants of permeation through the cation channel TRPV4. J Biol Chem (2002) 2.24

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet (2008) 2.24

Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding. J Clin Invest (2007) 2.19

The vanilloid transient receptor potential channel TRPV4: from structure to disease. Prog Biophys Mol Biol (2009) 2.13

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet (2009) 2.02

PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4. J Biol Chem (2006) 1.71

Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. Cell (2008) 1.69

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proc Natl Acad Sci U S A (2009) 1.66

Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking. J Biol Chem (2005) 1.61

Structure of the N-terminal ankyrin repeat domain of the TRPV2 ion channel. J Biol Chem (2006) 1.57

Structural analyses of the ankyrin repeat domain of TRPV6 and related TRPV ion channels. Biochemistry (2008) 1.54

Differential regulation of TRPV1, TRPV3, and TRPV4 sensitivity through a conserved binding site on the ankyrin repeat domain. J Biol Chem (2009) 1.54

Differential expression of the capsaicin receptor TRPV1 and related novel receptors TRPV3, TRPV4 and TRPM8 in normal human tissues and changes in traumatic and diabetic neuropathy. BMC Neurol (2007) 1.51

Molecular mechanisms of TRPV4-mediated neural signaling. Ann N Y Acad Sci (2008) 1.38

Identification and characterization of novel TRPV4 modulators. Biochem Biophys Res Commun (2009) 1.36

Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol (1994) 1.26

The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology (2003) 1.22

Hearing impairment in TRPV4 knockout mice. Neurosci Lett (2005) 1.17

Immortalization and characterization of a nociceptive dorsal root ganglion sensory neuronal line. J Peripher Nerv Syst (2007) 1.16

Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. Ann Neurol (2005) 1.14

Interplay between TRP channels and the cytoskeleton in health and disease. Eur J Cell Biol (2008) 1.04

Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. Neuromuscul Disord (2002) 0.88

Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27

Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34

NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71

Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med (2011) 6.34

Molecular structure and physiological function of chloride channels. Physiol Rev (2002) 6.09

Toxic proteins in neurodegenerative disease. Science (2002) 5.82

Mutant dynactin in motor neuron disease. Nat Genet (2003) 5.28

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain (2009) 4.01

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet (2004) 3.72

Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol (2009) 3.62

Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Nature (2005) 3.60

SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol (2009) 3.55

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet (2003) 3.55

Mechanisms of sensory transduction in the skin. Nature (2007) 3.53

The ankyrin repeats of TRPV1 bind multiple ligands and modulate channel sensitivity. Neuron (2007) 3.48

Transient receptor potential family members PKD1L3 and PKD2L1 form a candidate sour taste receptor. Proc Natl Acad Sci U S A (2006) 3.24

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus. Nat Commun (2011) 3.23

Large-scale proteomics and phosphoproteomics of urinary exosomes. J Am Soc Nephrol (2008) 3.22

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest (2007) 3.11

TRPV1 shows dynamic ionic selectivity during agonist stimulation. Nat Neurosci (2008) 3.08

Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05

A common polymorphism in the brain-derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMS. J Physiol (2008) 3.00

A unified nomenclature for the superfamily of TRP cation channels. Mol Cell (2002) 2.99

Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein. Hum Mol Genet (2003) 2.89

Structure of the ubiquitin hydrolase UCH-L3 complexed with a suicide substrate. J Biol Chem (2004) 2.75

Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci (2009) 2.71

Thermosensation and pain. J Neurobiol (2004) 2.56

MicroRNA pathways modulate polyglutamine-induced neurodegeneration. Mol Cell (2006) 2.55

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord (2010) 2.47

Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol (2005) 2.34

TRP channel regulates EGFR signaling in hair morphogenesis and skin barrier formation. Cell (2010) 2.32

Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol (2003) 2.28

2-aminoethoxydiphenyl borate activates and sensitizes the heat-gated ion channel TRPV3. J Neurosci (2004) 2.27

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. Lancet Neurol (2011) 2.27

Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. Neuron (2009) 2.26

Nociceptors lacking TRPV1 and TRPV2 have normal heat responses. J Neurosci (2004) 2.24

Altered thermal selection behavior in mice lacking transient receptor potential vanilloid 4. J Neurosci (2005) 2.21

Antiphospholipase A2 receptor antibody titer and subclass in idiopathic membranous nephropathy. J Am Soc Nephrol (2012) 2.21

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry (2012) 2.20

Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy. Neuron (2011) 2.19

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep (2011) 2.17

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet (2013) 2.09

A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. J Cell Biol (2006) 2.08

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet (2010) 2.08

Regulation of SMN protein stability. Mol Cell Biol (2008) 2.02

Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Mov Disord (2012) 2.02

Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. Ann Neurol (2008) 2.01

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00

Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models. Annu Rev Physiol (2005) 1.98

Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy. J Am Soc Nephrol (2013) 1.94

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem (2010) 1.93

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol (2013) 1.90

TRPV3 and TRPV4 mediate warmth-evoked currents in primary mouse keratinocytes. J Biol Chem (2004) 1.88

Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol (2013) 1.88

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci (2006) 1.87

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet (2008) 1.84

Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med (2007) 1.81

C. elegans phototransduction requires a G protein-dependent cGMP pathway and a taste receptor homolog. Nat Neurosci (2010) 1.76

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathol (2013) 1.75

Towards a complete resolution of the genetic architecture of disease. Trends Genet (2010) 1.75

Structure of a herpesvirus-encoded cysteine protease reveals a unique class of deubiquitinating enzymes. Mol Cell (2007) 1.75

Clinical features of spinal and bulbar muscular atrophy. Brain (2009) 1.75

A novel α-synuclein missense mutation in Parkinson disease. Neurology (2013) 1.74

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest (2013) 1.74

Biphasic currents evoked by chemical or thermal activation of the heat-gated ion channel, TRPV3. J Biol Chem (2005) 1.67

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet (2011) 1.66

Negative regulation and gain control of sensory neurons by the C. elegans calcineurin TAX-6. Neuron (2002) 1.65