Published in Nat Genet on December 27, 2009
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
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain (2011) 2.15
The transient receptor potential family of ion channels. Genome Biol (2011) 2.08
ATP7A-related copper transport diseases-emerging concepts and future trends. Nat Rev Neurol (2011) 2.01
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
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
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
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet (2013) 1.32
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
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
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Neurology (2015) 1.11
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
Inherited neuropathies: clinical overview and update. Muscle Nerve (2013) 1.05
Forward genetic analysis reveals multiple gating mechanisms of TRPV4. J Biol Chem (2010) 1.04
Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology (2010) 1.02
TRPV4 and the regulation of vascular tone. J Cardiovasc Pharmacol (2013) 0.99
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med (2015) 0.99
TRPV4 mediates myofibroblast differentiation and pulmonary fibrosis in mice. J Clin Invest (2014) 0.98
The history of TRP channels, a commentary and reflection. Pflugers Arch (2011) 0.96
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol (2011) 0.95
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. J Neurol (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
Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth. J Biol Chem (2011) 0.87
Structural biology of TRP channels. Adv Exp Med Biol (2011) 0.87
Structural biology of TRP channels. Handb Exp Pharmacol (2014) 0.87
The Genetics of Spinal Muscular Atrophy: Progress and Challenges. Neurotherapeutics (2015) 0.86
Angiostatic factors in the pulmonary endarterectomy material from chronic thromboembolic pulmonary hypertension patients cause endothelial dysfunction. PLoS One (2012) 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
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
Facilitation of TRPV4 by TRPV1 is required for itch transmission in some sensory neuron populations. Sci Signal (2016) 0.81
Double-stranded RNA attenuates the barrier function of human pulmonary artery endothelial cells. PLoS One (2013) 0.81
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
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. Neurol Genet (2015) 0.80
Physiological and pathological functions of mechanosensitive ion channels. Mol Neurobiol (2014) 0.80
TRP Channels in Skin Biology and Pathophysiology. Pharmaceuticals (Basel) (2016) 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
Evolutionary dynamics of metazoan TRP channels. Pflugers Arch (2015) 0.78
TRPV4 activation at the physiological temperature is a critical determinant of neuronal excitability and behavior. Pflugers Arch (2015) 0.77
Peripheral neuropathies in rheumatic disease--a guide to diagnosis. Nat Rev Rheumatol (2012) 0.75
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy. Neural Plast (2017) 0.75
Clinical diversity caused by novel IGHMBP2 variants. J Hum Genet (2017) 0.75
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
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
TRP channels as cellular sensors. Nature (2003) 12.03
Transient receptor potential cation channels in disease. Physiol Rev (2007) 6.91
A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels. Neuron (1999) 6.13
OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity. Nat Cell Biol (2000) 3.88
Abnormal osmotic regulation in trpv4-/- mice. Proc Natl Acad Sci U S A (2003) 3.87
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
TRP channels: an overview. Cell Calcium (2005) 2.98
Mammalian TRPV4 (VR-OAC) directs behavioral responses to osmotic and mechanical stimuli in Caenorhabditis elegans. Proc Natl Acad Sci U S A (2003) 2.50
TRPV4 calcium entry channel: a paradigm for gating diversity. Am J Physiol Cell Physiol (2004) 2.35
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet (2008) 2.24
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
Phospholipase Cgamma1 controls surface expression of TRPC3 through an intermolecular PH domain. Nature (2005) 1.94
Homo- and heteromeric assembly of TRPV channel subunits. J Cell Sci (2005) 1.93
Transient receptor potential channels meet phosphoinositides. EMBO J (2008) 1.89
Classical transient receptor potential channel 6 (TRPC6) is essential for hypoxic pulmonary vasoconstriction and alveolar gas exchange. Proc Natl Acad Sci U S A (2006) 1.89
TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts. Cell Metab (2008) 1.79
PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4. J Biol Chem (2006) 1.71
The TRPV4 channel: structure-function relationship and promiscuous gating behaviour. Pflugers Arch (2003) 1.64
Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking. J Biol Chem (2005) 1.61
Structural analyses of the ankyrin repeat domain of TRPV6 and related TRPV ion channels. Biochemistry (2008) 1.54
TRP channel and cardiovascular disease. Pharmacol Ther (2008) 1.42
Molecular mechanisms of TRPV4-mediated neural signaling. Ann N Y Acad Sci (2008) 1.38
Crystal structure of the human TRPV2 channel ankyrin repeat domain. Protein Sci (2006) 1.32
Trafficking and assembly of the cold-sensitive TRPM8 channel. J Biol Chem (2006) 1.26
Ca2+-selective transient receptor potential V channel architecture and function require a specific ankyrin repeat. J Biol Chem (2004) 1.17
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. Ann Neurol (2005) 1.14
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. Hum Mol Genet (1996) 1.04
A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. J Neurol Neurosurg Psychiatry (1985) 1.02
Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. Eur J Hum Genet (1998) 0.99
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45
Nonlinear model predictive control of glucose concentration in subjects with type 1 diabetes. Physiol Meas (2004) 5.65
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
A unifying genetic model for facioscapulohumeral muscular dystrophy. Science (2010) 4.87
Characterization of HULC, a novel gene with striking up-regulation in hepatocellular carcinoma, as noncoding RNA. Gastroenterology (2006) 4.70
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science (2009) 3.72
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet (2003) 3.60
Multicentric, randomized, controlled trial to evaluate blood glucose control by the model predictive control algorithm versus routine glucose management protocols in intensive care unit patients. Diabetes Care (2006) 3.43
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet (2007) 3.26
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet (2002) 3.21
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol (2007) 2.80
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics (2003) 2.69
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet (2007) 2.63
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet (2007) 2.54
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet (2004) 2.50
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet (2007) 2.48
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet (2004) 2.45
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet (2002) 2.42
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
hCDC4 gene mutations in endometrial cancer. Cancer Res (2002) 2.36
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain (2012) 2.33
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet (2002) 2.27
Src tyrosine kinase is crucial for potassium channel function in human pulmonary arteries. Eur Respir J (2012) 2.16
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain (2011) 2.15
Vitamin D status and arterial hypertension: a systematic review. Nat Rev Cardiol (2009) 2.13
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet (2007) 2.11
Closing the loop: the adicol experience. Diabetes Technol Ther (2004) 2.11
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy. Nat Cell Biol (2007) 2.04
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology (2003) 1.97
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet (2005) 1.95
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet (2009) 1.95
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet (2006) 1.94
Thrombin impairs alveolar fluid clearance by promoting endocytosis of Na+,K+-ATPase. Am J Respir Cell Mol Biol (2005) 1.91
Classical transient receptor potential channel 6 (TRPC6) is essential for hypoxic pulmonary vasoconstriction and alveolar gas exchange. Proc Natl Acad Sci U S A (2006) 1.89
Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science (2006) 1.88
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet (2004) 1.88
Insulin kinetics in type-I diabetes: continuous and bolus delivery of rapid acting insulin. IEEE Trans Biomed Eng (2005) 1.86
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Vitamin D supplementation and regulatory T cells in apparently healthy subjects: vitamin D treatment for autoimmune diseases? Isr Med Assoc J (2010) 1.82
A double-blind, randomized, dose-response study investigating the pharmacodynamic and pharmacokinetic properties of the long-acting insulin analog detemir. Diabetes Care (2005) 1.82
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol (2003) 1.81
Blood monocytes mimic endothelial progenitor cells. Stem Cells (2005) 1.79
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
Neurology in sub-Saharan Africa: a challenge for World Federation of Neurology. Neurology (2007) 1.78
5' trans-splicing repair of the PLEC1 gene. J Invest Dermatol (2007) 1.77
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. Eur J Med Genet (2008) 1.77
Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat (2012) 1.74
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain (2007) 1.73
Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study. J Assoc Res Otolaryngol (2008) 1.73
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet (2004) 1.72
Peripheral nerve involvement in spinocerebellar ataxias. Arch Neurol (2004) 1.72
Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors. J Mol Diagn (2009) 1.72
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet (2012) 1.71
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol (2012) 1.70
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol (2003) 1.70
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Pathological consequences of VCP mutations on human striated muscle. Brain (2006) 1.68
Immune cells mimic the morphology of endothelial progenitor colonies in vitro. Stem Cells (2007) 1.66
Oleic acid inhibits alveolar fluid reabsorption: a role in acute respiratory distress syndrome? Am J Respir Crit Care Med (2004) 1.66
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet (2008) 1.65
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry (2013) 1.64
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Vitamin D status and its association with season, hospital and sepsis mortality in critical illness. Crit Care (2014) 1.63
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology (2012) 1.62
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A (2007) 1.62
Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet (2012) 1.62
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet (2005) 1.61
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur J Med Genet (2009) 1.60
Vitamin D and immune function. Nutrients (2013) 1.57
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet (2003) 1.57
Women underrepresented on editorial boards of 60 major medical journals. Gend Med (2011) 1.56
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int (2005) 1.55
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet (2005) 1.54
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat (2009) 1.54
Is the transportation highway the right road for hereditary spastic paraplegia? Am J Hum Genet (2002) 1.53
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. Hum Mol Genet (2007) 1.52
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am J Hum Genet (2010) 1.52
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet (2013) 1.51
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain (2010) 1.51
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet (2009) 1.51
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet (2007) 1.50
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet (2009) 1.50