Published in BMC Med Genet on September 24, 2004
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Hum Genet (2005) 1.04
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol (2011) 0.96
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. Eur J Hum Genet (2008) 0.95
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. J Biol Chem (2011) 0.94
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. Eur Arch Otorhinolaryngol (2015) 0.88
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. Am J Med Genet A (2005) 0.86
Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. PLoS One (2014) 0.84
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet (2011) 0.82
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL. Eur J Hum Genet (2013) 0.79
Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss. PLoS One (2014) 0.78
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations. Genet Test Mol Biomarkers (2015) 0.78
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. Hum Genet (2016) 0.75
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment. Biomed Res Int (2017) 0.75
Performance and prognostic utility of the 92-gene assay in the molecular subclassification of ampullary adenocarcinoma. BMC Cancer (2016) 0.75
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet (1996) 3.58
Human nonsyndromic sensorineural deafness. Annu Rev Genomics Hum Genet (2003) 2.31
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet (2001) 2.06
The Newfoundland population: a unique resource for genetic investigation of complex diseases. Hum Mol Genet (2003) 1.62
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet (2002) 1.58
A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet (2004) 1.56
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet (1996) 1.25
Type II transmembrane serine proteases. Thromb Haemost (2003) 1.25
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med (Berl) (2001) 1.19
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet (2001) 1.17
Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. J Med Genet (2003) 1.05
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. Hum Mutat (2001) 1.04
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet (1996) 1.04
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol (2005) 3.15
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet (2002) 3.10
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med (2010) 3.09
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet (2010) 2.95
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet (2008) 2.84
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci (2006) 2.41
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet (2003) 2.36
Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N Engl J Med (2005) 2.36
Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet (2009) 2.35
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet (2002) 2.31
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet (2009) 2.27
Frequency distribution of hepatitis C virus genotypes in different geographical regions of Pakistan and their possible routes of transmission. BMC Infect Dis (2008) 2.19
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet (2003) 2.14
Genetic insights into the morphogenesis of inner ear hair cells. Nat Rev Genet (2004) 2.11
Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet (2006) 2.05
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Natl Acad Sci U S A (2003) 2.04
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med (2003) 2.00
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell (2010) 1.94
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci (2005) 1.94
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol (2005) 1.82
Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease. Genet Med (2009) 1.82
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells. PLoS Biol (2013) 1.77
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis (2010) 1.75
Gamma-actin is required for cytoskeletal maintenance but not development. Proc Natl Acad Sci U S A (2009) 1.74
Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Hum Mol Genet (2004) 1.73
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat (2003) 1.67
Deafness and stria vascularis defects in S1P2 receptor-null mice. J Biol Chem (2007) 1.66
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet (2002) 1.62
Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet (2003) 1.51
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet (2010) 1.46
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat (2007) 1.44
Genomewide significant linkage to stuttering on chromosome 12. Am J Hum Genet (2005) 1.42
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med (2003) 1.38
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet (2002) 1.37
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat (2007) 1.37
An overview of HCV molecular biology, replication and immune responses. Virol J (2011) 1.37
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet (2011) 1.37
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet (2007) 1.36
A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci (2005) 1.34
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
Hepatitis C virus genotype 3a infection and hepatocellular carcinoma: Pakistan experience. World J Gastroenterol (2009) 1.31
A new locus for autosomal recessive congenital cataract identified in a Pakistani family. Mol Vis (2010) 1.30
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat (2008) 1.27
Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res (2013) 1.27
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis (2007) 1.27
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet (2011) 1.26
Twinfilin 2 regulates actin filament lengths in cochlear stereocilia. J Neurosci (2009) 1.26
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet (2008) 1.24