Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness - Wikidata - awgldk - TriplyDB

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

http://www.wikidata.org/entity/Q35442102

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Autosomal recessive nonsyndromic deafness genes: a review First molecular screening of deafness in the Altai Republic population.Genetic factors that might lead to different responses in individuals exposed to perchlorate.SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct Controversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cells The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.Genetic characteristics of the couple with non-syndromic sensorineural hearing loss and fertility guidance.A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?Integration of human and mouse genetics reveals pendrin function in hearing and deafness Transcriptional regulation of the pendrin gene.Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct Albumin-like protein is the major protein constituent of luminal fluid in the human endolymphatic sac.Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression.Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin.Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations.An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure.A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.Influence of dietary iodine deficiency on the thyroid gland in Slc26a4-null mutant mice.Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

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A Pandya

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E R Wilcox

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P2860

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex

A mutation in PDS causes non-syndromic recessive deafness

Two frequent missense mutations in Pendred syndrome

Molecular analysis of the PDS gene in Pendred syndrome

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