Published in Hum Mutat on May 01, 2001
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet (2003) 2.52
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat (2009) 2.25
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J Transl Med (2009) 1.62
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet (2007) 1.59
Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3. J Biol Chem (2008) 1.43
Diverse transport modes by the solute carrier 26 family of anion transporters. J Physiol (2008) 1.35
Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility. EMBO J (2006) 1.32
Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet (2007) 1.24
Myosin II regulates extension, growth and patterning in the mammalian cochlear duct. Development (2009) 1.19
Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. PLoS One (2010) 1.17
At the speed of sound: gene discovery in the auditory system. Am J Hum Genet (2001) 1.15
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. Proc Natl Acad Sci U S A (2008) 1.15
Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr (2011) 1.14
Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models. Hear Res (2011) 1.11
The genetic bases for non-syndromic hearing loss among Chinese. J Hum Genet (2009) 1.11
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. J Clin Invest (2011) 1.07
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. J Transl Med (2011) 1.03
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. J Transl Med (2008) 1.02
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. PLoS One (2012) 1.01
Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center. PLoS One (2011) 0.96
Cortical distal nephron Cl(-) transport in volume homeostasis and blood pressure regulation. Am J Physiol Renal Physiol (2013) 0.92
Genetics of hearing and deafness. Anat Rec (Hoboken) (2012) 0.91
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. J Med Genet (2009) 0.87
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem (2011) 0.87
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. BMC Med Genet (2013) 0.85
Genetics of hearing loss: where are we standing now? Eur Arch Otorhinolaryngol (2012) 0.85
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. Otolaryngol Head Neck Surg (2009) 0.84
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. Genet Test Mol Biomarkers (2009) 0.84
In silico analysis of 2085 clones from a normalized rat vestibular periphery 3' cDNA library. Audiol Neurootol (2005) 0.84
Anion translocation through an Slc26 transporter mediates lumen expansion during tubulogenesis. Proc Natl Acad Sci U S A (2013) 0.83
Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss. PeerJ (2014) 0.83
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. PLoS One (2015) 0.82
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. Eur J Pediatr (2003) 0.82
Progressive irreversible hearing loss is caused by stria vascularis degeneration in an Slc26a4-insufficient mouse model of large vestibular aqueduct syndrome. Neuroscience (2015) 0.82
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. Biomed Res Int (2016) 0.82
SLC26A4 mutations in patients with moderate to severe hearing loss. Biochem Genet (2013) 0.81
Genetic factors that might lead to different responses in individuals exposed to perchlorate. Environ Health Perspect (2005) 0.81
Etiology and audiological outcomes at 3 years for 364 children in Australia. PLoS One (2013) 0.79
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. Eur J Pediatr (2008) 0.79
The pendrin anion exchanger gene is transcriptionally regulated by uroguanylin: a novel enterorenal link. Am J Physiol Renal Physiol (2011) 0.78
Transcriptional regulation of the pendrin gene. Cell Physiol Biochem (2011) 0.78
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. Clin Exp Otorhinolaryngol (2013) 0.78
SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct. World J Otorhinolaryngol (2013) 0.77
Integration of human and mouse genetics reveals pendrin function in hearing and deafness. Cell Physiol Biochem (2011) 0.77
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. BMC Med Genet (2013) 0.76
Defects of Thyroid Hormone Synthesis and Action. Endocrinol Metab Clin North Am (2017) 0.75
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. Eur Arch Otorhinolaryngol (2014) 0.75
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis. Medicine (Baltimore) (2015) 0.75
SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct. J Transl Med (2012) 0.75
A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome. Clin Exp Otorhinolaryngol (2009) 0.75
Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet (1998) 19.35
Identification of a gene that causes primary open angle glaucoma. Science (1997) 8.14
Perspectives on the basic reproductive ratio. J R Soc Interface (2005) 5.34
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet (2000) 4.81
Value-based pathology: a cost-benefit analysis of the examination of routine and nonroutine tonsil and adenoid specimens. Am J Clin Pathol (1997) 4.51
A small element from the Mason-Pfizer monkey virus genome makes human immunodeficiency virus type 1 expression and replication Rev-independent. Proc Natl Acad Sci U S A (1994) 4.43
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet (1997) 4.43
A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science (1994) 4.02
Selective inhibition of receptor-coupled phospholipase C-dependent processes in human platelets and polymorphonuclear neutrophils. J Pharmacol Exp Ther (1990) 3.55
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet (2000) 3.48
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet (1999) 3.32
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet (1998) 3.24
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet (1999) 3.24
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N Engl J Med (1998) 3.18
Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet (2001) 3.06
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet (1995) 3.02
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci U S A (2001) 2.97
Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet (1997) 2.82
Integrin-mediated localization of Bordetella pertussis within macrophages: role in pulmonary colonization. J Exp Med (1991) 2.79
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet (2001) 2.77
The gut: a central organ after surgical stress. Surgery (1988) 2.76
Insulin receptor phosphorylation, insulin receptor substrate-1 phosphorylation, and phosphatidylinositol 3-kinase activity are decreased in intact skeletal muscle strips from obese subjects. J Clin Invest (1995) 2.66
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet (2001) 2.56
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA (1999) 2.56
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet (1998) 2.53
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet (1998) 2.52
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet (1995) 2.50
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet (2001) 2.48
Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet (2000) 2.45
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet (1999) 2.42
Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol (2001) 2.38
Congenital cytomegalovirus infection. N Engl J Med (1977) 2.35
The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet (1999) 2.32
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet (1993) 2.24
Biochemical and structural changes in mitochondria and other cellular components of pea cotyledons during germination. Can J Biochem (1972) 2.19
Broadband observations of the naked-eye gamma-ray burst GRB 080319B. Nature (2008) 2.16
Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange. Am J Physiol Cell Physiol (2000) 2.13
Pitfalls in homozygosity mapping. Am J Hum Genet (2000) 2.12
A re-examination of risk estimates from the NIOSH Occupational Noise and Hearing Survey (ONHS) J Acoust Soc Am (1997) 2.09
Congenital cytomegalovirus infection: diagnostic and prognostic significance of the detection of specific immunoglobulin M antibodies in cord serum. Pediatrics (1982) 2.07
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol (1993) 2.05
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet (1993) 2.05
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol (1994) 2.05
Improved set of short-tandem-repeat polymorphisms for screening the human genome. Am J Hum Genet (1997) 2.03
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet (1995) 1.99
Oral challenge tests for urticaria--an ethical dilemma. Br J Dermatol (1994) 1.98
Pattern formation in the blue-green alga, Anabaena. I. Basic mechanisms. J Cell Sci (1973) 1.92
Metabolic imaging of malignant pleural mesothelioma with fluorodeoxyglucose positron emission tomography. Chest (1998) 1.91
An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2001) 1.90
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol (2000) 1.89
Camptodactyly and simialr atraumatic flexion deformities of the proximal interphalangeal joints of the fingers. A study of thirty-one cases. J Bone Joint Surg Am (1968) 1.89
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci (2000) 1.84
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet (1999) 1.82
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet (1998) 1.80
Examination of AVPR1a as an autism susceptibility gene. Mol Psychiatry (2004) 1.80
Eye signs in craniopharyngioma. Br J Ophthalmol (1975) 1.80
Sustained endotoxemia leads to marked down-regulation of early steps in the insulin-signaling cascade. Crit Care Med (2001) 1.78
The effect of viral regulatory protein expression on gene delivery by human immunodeficiency virus type 1 vectors produced in stable packaging cell lines. J Virol (1997) 1.78
Pattern formation in the blue-green alga Anabaena. II. Controlled proheterocyst regression. J Cell Sci (1973) 1.78
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet (1992) 1.77
Recurrent meningitis and Mondini dysplasia. Arch Otolaryngol Head Neck Surg (1990) 1.77
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet (2000) 1.76
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet (1994) 1.72
Glutamine metabolism by the intestinal tract. JPEN J Parenter Enteral Nutr (1985) 1.71
Teratogenicity of 2-ethoxyethanol by dermal application. Drug Chem Toxicol (1982) 1.70
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet (1996) 1.69
Biochemical changes in the collagen of the palmar fascia in patients with Dupuytren's disease. J Bone Joint Surg Am (1981) 1.69
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol (2001) 1.68
Clinical and metabolic efficacy of glutamine-supplemented parenteral nutrition after bone marrow transplantation. A randomized, double-blind, controlled study. Ann Intern Med (1992) 1.68
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet (2001) 1.68
Challenge test battery in chronic urticaria. Br J Dermatol (1976) 1.67
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet (2001) 1.67
Localization of Usher syndrome type II to chromosome 1q. Genomics (1990) 1.67
Prognostic value of FDG PET imaging in malignant pleural mesothelioma. J Nucl Med (1999) 1.67
A single dose of endotoxin increases intestinal permeability in healthy humans. Arch Surg (1988) 1.66
Bioregulation of lysosomal enzyme secretion from human neutrophils: roles of guanosine 3':5'-monophosphate and calcium in stimulus-secretion coupling. Proc Natl Acad Sci U S A (1975) 1.65
Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet (1998) 1.63
Why retrobulbar anaesthesia? Br J Ophthalmol (1988) 1.63
Endocapsular iris reconstruction implants for acquired iris defects: a clinical study. Eye (Lond) (2006) 1.62
Mutants of Anabaena cylindrica altered in heterocyst spacing. Arch Microbiol (1975) 1.62
National survey of local anaesthesia for ocular surgery: early report. Eye (Lond) (1998) 1.61
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet (2001) 1.61
Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: working memory, frontal lobe MRI morphology and frontal cerebral blood flow. Mol Psychiatry (2005) 1.61
Related cell-surface antigens expressed with positional specificity in Drosophila imaginal discs. Proc Natl Acad Sci U S A (1984) 1.60
Search for supersymmetry using final states with one lepton, jets, and missing transverse momentum with the ATLAS detector in √s=7 TeV pp collisions. Phys Rev Lett (2011) 1.60
Ten per cent polarized optical emission from GRB 090102. Nature (2009) 1.58
Highly polarized light from stable ordered magnetic fields in GRB 120308A. Nature (2013) 1.57
Performance of a whole-body PET scanner using curve-plate NaI(Tl) detectors. J Nucl Med (2001) 1.56
A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet (2004) 1.56
Giant-cell tumors of the bones of the hand. J Hand Surg Am (1980) 1.55
Molecular genetics of age-related macular degeneration. Hum Mol Genet (2001) 1.55
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet (1996) 1.54