Published in Eur J Hum Genet on October 10, 2012
Fibro-osseous lesions of the craniofacial skeleton: an update. Head Neck Pathol (2014) 1.02
Independent activation of distinct pores in dimeric TMEM16A channels. J Gen Physiol (2016) 0.94
Genetic risk factors in two Utah pedigrees at high risk for suicide. Transl Psychiatry (2013) 0.89
Modulating Ca(2+) signals: a common theme for TMEM16, Ist2, and TMC. Pflugers Arch (2015) 0.79
Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy. Skelet Muscle (2015) 0.79
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. Sci Rep (2016) 0.77
A Role of TMEM16E Carrying a Scrambling Domain in Sperm Motility. Mol Cell Biol (2015) 0.77
Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene. Oral Surg Oral Med Oral Pathol Oral Radiol (2016) 0.76
Plasma Membrane Repair in Health and Disease. Curr Top Membr (2015) 0.75
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. Sci Rep (2017) 0.75
TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity. Science (2008) 8.74
TMEM16A confers receptor-activated calcium-dependent chloride conductance. Nature (2008) 8.40
Expression cloning of TMEM16A as a calcium-activated chloride channel subunit. Cell (2008) 7.79
Calcium-dependent phospholipid scrambling by TMEM16F. Nature (2010) 3.63
ANO2 is the cilial calcium-activated chloride channel that may mediate olfactory amplification. Proc Natl Acad Sci U S A (2009) 2.61
TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals. J Neurosci (2009) 2.19
Regulation of TMEM16A chloride channel properties by alternative splicing. J Biol Chem (2009) 2.16
Expression and function of epithelial anoctamins. J Biol Chem (2010) 1.95
The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet (2004) 1.86
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet (2010) 1.81
Characterization of the oligomeric structure of the Ca(2+)-activated Cl- channel Ano1/TMEM16A. J Biol Chem (2010) 1.58
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain (2011) 1.51
Anoctamin 6 is an essential component of the outwardly rectifying chloride channel. Proc Natl Acad Sci U S A (2011) 1.46
ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins. Am J Physiol Cell Physiol (2011) 1.43
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet (2010) 1.40
Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. Biochem Biophys Res Commun (2007) 1.25
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. Blood (2011) 1.24
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. Traffic (2006) 1.17
Evolution and functional divergence of the anoctamin family of membrane proteins. BMC Evol Biol (2010) 1.12
Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. J Bone Miner Res (2001) 1.06
A new distal myopathy with mutation in anoctamin 5. Neuromuscul Disord (2010) 1.03
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology (2012) 1.03
Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1. Biochem Biophys Res Commun (2005) 1.00
[Familial cases of a new systemic bone disease, hereditary gnatho-diaphyseal sclerosis]. Nihon Seikeigeka Gakkai Zasshi (1969) 0.97
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]. Nervenarzt (2011) 0.94
Gnathodiaphyseal dysplasia. Clin Imaging (2006) 0.90
Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul Disord (2011) 0.88
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. Muscle Nerve (2012) 0.88
GDD1 is identical to TMEM16E, a member of the TMEM16 family. Am J Hum Genet (2004) 0.81
TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity. Science (2008) 8.74
Thiazolidinone CFTR inhibitor identified by high-throughput screening blocks cholera toxin-induced intestinal fluid secretion. J Clin Invest (2002) 4.97
BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. J Clin Endocrinol Metab (2005) 4.39
Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening. J Clin Invest (2005) 4.19
Chloride channels as drug targets. Nat Rev Drug Discov (2008) 3.22
Discovery of glycine hydrazide pore-occluding CFTR inhibitors: mechanism, structure-activity analysis, and in vivo efficacy. J Gen Physiol (2004) 3.10
Comparison of procalcitonin and C-reactive protein as markers of sepsis. Crit Care Med (2003) 2.34
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood (2011) 2.29
Nanomolar affinity small molecule correctors of defective Delta F508-CFTR chloride channel gating. J Biol Chem (2003) 2.25
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica (2007) 2.23
Regulation of TMEM16A chloride channel properties by alternative splicing. J Biol Chem (2009) 2.16
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) (2003) 2.05
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. Genome Biol (2013) 1.90
High-affinity activators of cystic fibrosis transmembrane conductance regulator (CFTR) chloride conductance identified by high-throughput screening. J Biol Chem (2002) 1.89
Contribution of CFTR to apical-basolateral fluid transport in cultured human alveolar epithelial type II cells. Am J Physiol Lung Cell Mol Physiol (2005) 1.87
Genetic variants regulating immune cell levels in health and disease. Cell (2013) 1.86
Phenylglycine and sulfonamide correctors of defective delta F508 and G551D cystic fibrosis transmembrane conductance regulator chloride-channel gating. Mol Pharmacol (2005) 1.80
Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome. Prenat Diagn (2012) 1.78
Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny. Science (2013) 1.70
Banking together. A unified model of informed consent for biobanking. EMBO Rep (2008) 1.67
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med (2011) 1.62
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet (2008) 1.59
Association of aberrant methylation of tumor suppressor genes with tumor aggressiveness and BRAF mutation in papillary thyroid cancer. Int J Cancer (2006) 1.56
Structure and function of TMEM16 proteins (anoctamins). Physiol Rev (2014) 1.56
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica (2002) 1.46
TMEM16A protein: a new identity for Ca(2+)-dependent Cl⁻ channels. Physiology (Bethesda) (2010) 1.45
Gelsolin secretion in interleukin-4-treated bronchial epithelia and in asthmatic airways. Am J Respir Crit Care Med (2005) 1.45
Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis. Biochem J (2008) 1.44
Lectin conjugates as potent, nonabsorbable CFTR inhibitors for reducing intestinal fluid secretion in cholera. Gastroenterology (2007) 1.42
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. Eur J Pediatr (2009) 1.38
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet (2011) 1.37
Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis (2003) 1.36
Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels. J Immunol (2007) 1.35
Altered channel gating mechanism for CFTR inhibition by a high-affinity thiazolidinone blocker. FEBS Lett (2004) 1.35
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int (2004) 1.35
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat (2008) 1.34
ANKRD26-related thrombocytopenia and myeloid malignancies. Blood (2013) 1.32
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32
CFTR chloride channel drug discovery--inhibitors as antidiarrheals and activators for therapy of cystic fibrosis. Curr Pharm Des (2006) 1.30
De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn (2009) 1.29
Influence of cell background on pharmacological rescue of mutant CFTR. Am J Physiol Cell Physiol (2010) 1.28
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. Eur J Hum Genet (2013) 1.27
Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease. Int J Mol Med (2006) 1.26
Read count approach for DNA copy number variants detection. Bioinformatics (2011) 1.23
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis (2009) 1.20
Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Hum Hered (2007) 1.19
Altered expression of Ano1 variants in human diabetic gastroparesis. J Biol Chem (2011) 1.19
IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitro. J Immunol (2002) 1.18
Evidence against the rescue of defective DeltaF508-CFTR cellular processing by curcumin in cell culture and mouse models. J Biol Chem (2004) 1.16
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat (2013) 1.15
Cytokines induce tight junction disassembly in airway cells via an EGFR-dependent MAPK/ERK1/2-pathway. Lab Invest (2012) 1.15
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet (2001) 1.15
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum (2008) 1.13
Genetic relationship between multiple squamous cell carcinomas arising in the oral cavity. Head Neck (2013) 1.12
The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. Exp Physiol (2011) 1.11
Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations. Schizophr Bull (2014) 1.10
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain (2005) 1.09
Nanomolar CFTR inhibition by pore-occluding divalent polyethylene glycol-malonic acid hydrazides. Chem Biol (2008) 1.09
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia. J Physiol (2012) 1.09
A minimal isoform of the TMEM16A protein associated with chloride channel activity. Biochim Biophys Acta (2011) 1.08
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Am J Med Genet A (2012) 1.08
Proinflammatory cytokine secretion is suppressed by TMEM16A or CFTR channel activity in human cystic fibrosis bronchial epithelia. Mol Biol Cell (2012) 1.07
FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet (2013) 1.06
EX-HOM (EXome HOMozygosity): a proof of principle. Hum Hered (2011) 1.06
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene. Hum Mutat (2005) 1.06
Correction of G551D-CFTR transport defect in epithelial monolayers by genistein but not by CPX or MPB-07. Br J Pharmacol (2002) 1.05
Evaluation of survival and success rates of dental implants placed at the time of or after alveolar ridge augmentation with an autogenous mandibular bone graft and titanium mesh: a 3- to 8-year retrospective study. Int J Oral Maxillofac Implants (2010) 1.04
Radiographic assessment of the mandibular retromolar canal using cone-beam computed tomography. Acta Odontol Scand (2012) 1.03
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. Am J Med Genet A (2007) 1.03
CFTR activation in human bronchial epithelial cells by novel benzoflavone and benzimidazolone compounds. Am J Physiol Lung Cell Mol Physiol (2003) 1.03
Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI). Ann Hum Genet (2011) 1.01
Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases. Clin Chem (2010) 1.00
Proteomic analysis of the airway surface liquid: modulation by proinflammatory cytokines. Am J Physiol Lung Cell Mol Physiol (2007) 1.00
Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene (2002) 1.00
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost (2010) 0.98
Rescue of the mutant CFTR chloride channel by pharmacological correctors and low temperature analyzed by gene expression profiling. Am J Physiol Cell Physiol (2011) 0.98
Alveolar ridge augmentation with titanium mesh and a combination of autogenous bone and anorganic bovine bone: a 2-year prospective study. J Periodontol (2008) 0.98
Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Commun (2008) 0.97
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. Am J Med Genet A (2003) 0.97
Dual activity of aminoarylthiazoles on the trafficking and gating defects of the cystic fibrosis transmembrane conductance regulator chloride channel caused by cystic fibrosis mutations. J Biol Chem (2011) 0.97
TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels. Biochem J (2013) 0.97
Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome. Clin Gastroenterol Hepatol (2006) 0.96
Antihypertensive 1,4-dihydropyridines as correctors of the cystic fibrosis transmembrane conductance regulator channel gating defect caused by cystic fibrosis mutations. Mol Pharmacol (2005) 0.95
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome. Genet Med (2010) 0.95
The combined therapeutic effects of bortezomib and fenretinide on neuroblastoma cells involve endoplasmic reticulum stress response. Clin Cancer Res (2009) 0.95