Published in Hum Mutat on July 01, 2002
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models. Brain Res (2009) 1.20
Molecular biology of hearing. GMS Curr Top Otorhinolaryngol Head Neck Surg (2012) 0.80
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). PLoS One (2016) 0.78
Connexinopathies: a structural and functional glimpse. BMC Cell Biol (2016) 0.75
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. Eur Arch Otorhinolaryngol (2014) 0.75
Genetic analysis for early diagnosis of otorhinolaryngeal diseases. GMS Curr Top Otorhinolaryngol Head Neck Surg (2010) 0.75
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. BMC Genet (2016) 0.75
New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing. Nat Commun (2012) 3.18
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
HP1 binds specifically to Lys26-methylated histone H1.4, whereas simultaneous Ser27 phosphorylation blocks HP1 binding. J Biol Chem (2005) 2.05
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
Deletion of the Ca2+-activated potassium (BK) alpha-subunit but not the BKbeta1-subunit leads to progressive hearing loss. Proc Natl Acad Sci U S A (2004) 1.67
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet (2004) 1.67
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. Hum Mol Genet (2007) 1.52
GRM7 variants confer susceptibility to age-related hearing impairment. Hum Mol Genet (2008) 1.49
Deficient forward transduction and enhanced reverse transduction in the alpha tectorin C1509G human hearing loss mutation. Dis Model Mech (2010) 1.40
Thyroid hormone deficiency affects postnatal spiking activity and expression of Ca2+ and K+ channels in rodent inner hair cells. J Neurosci (2007) 1.39
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem (2004) 1.32
Feasibility of simultaneous PET/MR imaging in the head and upper neck area. Eur Radiol (2011) 1.28
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet (2002) 1.23
Thyroid hormone is a critical determinant for the regulation of the cochlear motor protein prestin. Proc Natl Acad Sci U S A (2002) 1.22
Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat. Eur J Neurosci (2006) 1.21
Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell. Hum Mol Genet (2009) 1.21
Tracheal stenosis and obliteration above the tracheostoma after percutaneous dilational tracheostomy. Crit Care Med (2003) 1.19
Phosphorylation regulates transcriptional activity of PAX3/FKHR and reveals novel therapeutic possibilities. Cancer Res (2008) 1.17
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol (2003) 1.17
A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. Mol Med (2002) 1.14
Outcomes research analysis of continuous intratympanic glucocorticoid delivery in patients with acute severe to profound hearing loss: basis for planning randomized controlled trials. Acta Otolaryngol (2005) 1.09
H3K64 trimethylation marks heterochromatin and is dynamically remodeled during developmental reprogramming. Nat Struct Mol Biol (2009) 1.08
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait. Am J Hum Genet (2008) 1.07
Genetic heterogeneity of deafness phenotypes linked to DFNA4. Am J Med Genet A (2005) 1.05
Loss of heterozygosity and promoter methylation, but not mutation, may underlie loss of TFF1 in gastric carcinoma. Lab Invest (2002) 1.05
IL-4 and IL-13 up-regulate intestinal trefoil factor expression: requirement for STAT6 and de novo protein synthesis. J Immunol (2004) 1.04
Phylogenetic analysis of human parvovirus B19, indicating two subgroups of genotype 1 in Vietnamese patients. J Gen Virol (2006) 1.04
Aquaporin-mediated fluid regulation in the inner ear. Cell Mol Neurobiol (2003) 1.04
Histone H1 variant-specific lysine methylation by G9a/KMT1C and Glp1/KMT1D. Epigenetics Chromatin (2010) 1.03
Intestinal expression of TFF and related genes during postnatal development in a piglet probiotic trial. Cell Physiol Biochem (2009) 1.03
Aberrant epigenetic patterns in the etiology of gastrointestinal cancers. J Appl Genet (2008) 1.01
Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells. Neurobiol Dis (2005) 1.01
Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients. Hum Mutat (2002) 1.01
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. Hum Mutat (2005) 0.99
Yersinial F1 antigen and the cause of Black Death. Lancet Infect Dis (2004) 0.99
Down-regulation of TFF expression in gastrointestinal cell lines by cytokines and nuclear factors. Cell Physiol Biochem (2002) 0.98
Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping. Int J Mol Med (2008) 0.98
Human parvovirus B19 NS1 protein modulates inflammatory signaling by activation of STAT3/PIAS3 in human endothelial cells. J Virol (2008) 0.96
Comparison of automated procedures for ARMA model identification. Behav Res Methods (2008) 0.96
Quantitative proteomics reveals direct and indirect alterations in the histone code following methyltransferase knockdown. Mol Biosyst (2010) 0.94
Cochlear pharmacokinetics with local inner ear drug delivery using a three-dimensional finite-element computer model. Audiol Neurootol (2006) 0.94
The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss. Otol Neurotol (2007) 0.94
A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. Am J Ophthalmol (2003) 0.93
Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation. Eur J Hum Genet (2002) 0.92
Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome. Neurobiol Dis (2006) 0.92
The CpG island methylator phenotype correlates with long-range epigenetic silencing in colorectal cancer. Mol Cancer Res (2008) 0.92
Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. Cancer Genet Cytogenet (2004) 0.92
Coincidence of mutations in different connexin genes in Hungarian patients. Int J Mol Med (2007) 0.92
Phospholipase A2 activity-dependent stimulation of Ca2+ entry by human parvovirus B19 capsid protein VP1. J Virol (2006) 0.91
Cytokine regulation of the trefoil factor family binding protein GKN2 (GDDR/TFIZ1/blottin) in human gastrointestinal epithelial cells. Cell Physiol Biochem (2007) 0.91
Inhibition of Na+/H+ exchanger activity by parvovirus B19 protein NS1. Cell Physiol Biochem (2009) 0.91
Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form. Hum Mol Genet (2008) 0.90
Anatomy involved in the jugular foramen approach for jugulotympanic paraganglioma resection. Neurosurg Focus (2004) 0.90
Tinnitus sensitization: Sensory and psychophysiological aspects of a new pathway of acquired centralization of chronic tinnitus. Otol Neurotol (2006) 0.90
Otoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cells. J Neurosci (2013) 0.89
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22). Eur J Hum Genet (2005) 0.89
Speech-in-noise intelligibility does not correlate with efferent olivocochlear reflex in humans with normal hearing. Acta Otolaryngol (2008) 0.88
Deafness in TRbeta mutants is caused by malformation of the tectorial membrane. J Neurosci (2009) 0.88
Identification of blottin: a novel gastric trefoil factor family-2 binding protein. Proteomics (2006) 0.87
The incidence of acoustic trauma due to New Year's firecrackers. Eur Arch Otorhinolaryngol (2002) 0.87
Technical note on microcatheter implantation for local inner ear drug delivery: surgical technique and safety aspects. Otol Neurotol (2006) 0.86
Trefoil factor 2 (TFF2) deficiency in murine digestive tract influences the immune system. Cell Physiol Biochem (2005) 0.86
Dynamic contrast-enhanced ultrasound for assessment of skeletal muscle microcirculation in peripheral arterial disease. Invest Radiol (2011) 0.86
Accuracy of velocity distortion product otoacoustic emissions for estimating mechanically based hearing loss. Hear Res (2009) 0.86
Epigenetic alterations by methylation of RASSF1A and DAPK1 promoter sequences in mammary carcinoma detected in extracellular tumor DNA. Cancer Genet Cytogenet (2010) 0.85
Intermediate- and low-methylation epigenotypes do not correspond to CpG island methylator phenotype (low and -zero) in colorectal cancer. Cancer Epidemiol Biomarkers Prev (2012) 0.85
Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations. Environ Mol Mutagen (2007) 0.85
Conditions for highly efficient and reproducible round-window stimulation in humans. Audiol Neurootol (2011) 0.84
Inactivation of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene in squamous cell carcinoma of the larynx. Mol Carcinog (2004) 0.84
Epigenetic control of the E-cadherin gene (CDH1) by CpG methylation in colectomy samples of patients with ulcerative colitis. Genes Chromosomes Cancer (2002) 0.84
Surgical-handling properties of the titanium prosthesis in ossiculoplasty. Ear Nose Throat J (2005) 0.84
Assessment of skeletal muscle microcirculation in type 2 diabetes mellitus using dynamic contrast-enhanced ultrasound: a pilot study. Diab Vasc Dis Res (2013) 0.84
Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas. Anticancer Res (2005) 0.83
Three distinct regions of deletion on 13q in squamous cell carcinoma of the larynx. Oncol Rep (2006) 0.83
Autonomous functions of murine thyroid hormone receptor TRα and TRβ in cochlear hair cells. Mol Cell Endocrinol (2013) 0.82
A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome. Int J Mol Med (2007) 0.82