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

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

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

http://www.wikidata.org/entity/Q28185082

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Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)Genetic factors that might lead to different responses in individuals exposed to perchlorate.Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis Genetics of hearing and deafness SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct Genetic causes of congenital hypothyroidism due to dyshormonogenesis Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China Progressive irreversible hearing loss is caused by stria vascularis degeneration in an Slc26a4-insufficient mouse model of large vestibular aqueduct syndrome Integration of human and mouse genetics reveals pendrin function in hearing and deafness Transcriptional regulation of the pendrin gene.Etiology and audiological outcomes at 3 years for 364 children in Australia.Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.In silico analysis of 2085 clones from a normalized rat vestibular periphery 3' cDNA library At the speed of sound: gene discovery in the auditory system The solute carrier 26 family of proteins in epithelial ion transport.Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility Genetic screening for hearing loss.Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China The genetic bases for non-syndromic hearing loss among Chinese The pendrin anion exchanger gene is transcriptionally regulated by uroguanylin: a novel enterorenal link SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct.Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA SLC26A4 mutations in patients with moderate to severe hearing loss Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Anion translocation through an Slc26 transporter mediates lumen expansion during tubulogenesis.Myosin II regulates extension, growth and patterning in the mammalian cochlear duct.

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

http://www.wikidata.org/entity/Q28185082

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2001 nî lūn-bûn

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2001 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2001年の論文

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2001年論文

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2001年論文

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Pendred syndrome, DFNB4, and P ...... enotype-phenotype correlations

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Pendred syndrome, DFNB4, and P ...... enotype-phenotype correlations

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Pendred syndrome, DFNB4, and P ...... enotype-phenotype correlations

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Pendred syndrome, DFNB4, and P ...... enotype-phenotype correlations

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Pendred syndrome, DFNB4, and P ...... enotype-phenotype correlations

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Pendred syndrome, DFNB4, and P ...... enotype-phenotype correlations

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P2860

The Pendred syndrome gene encodes a chloride-iodide transport protein

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

A novel mutation in the pendrin gene associated with Pendred's syndrome

Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

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

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

A mutation in PDS causes non-syndromic recessive deafness

Two frequent missense mutations in Pendred syndrome

Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

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10.1002/HUMU.1116

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