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SLC26A4 gene

The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations

The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations

... In this descriptive laboratory study, informational questionnaires were filled out and clinical evaluations were performed. We included 30 families with at least 2 ARNHL individuals from the western provinces of Iran ...

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Original Article GJB2 and SLC26A4 gene mutations in children with non-syndromic hearing loss in Southern China

Original Article GJB2 and SLC26A4 gene mutations in children with non-syndromic hearing loss in Southern China

... [10] de Moraes VC, dos Santos NZ, Ramos PZ, Svid- nicki MC, Castilho AM, Sartorato EL. Molecular analysis of SLC26A4 gene in patients with non- syndromic hearing loss and EVA: identification of two novel ...

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SLC26A4 gene copy number variations in Chinese patients with non syndromic enlarged vestibular aqueduct

SLC26A4 gene copy number variations in Chinese patients with non syndromic enlarged vestibular aqueduct

... SLC26A4 gene mutations have the characteristic of allelic heterogeneity, ...that SLC26A4 biallelic mutations (homozygote or complex heterozygote) cause NSEVA, while a person with a monoallelic ...

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Original Article Genetic mutations of hotspots in patients with nonsyndromic deafness in Fujian, China

Original Article Genetic mutations of hotspots in patients with nonsyndromic deafness in Fujian, China

... GJB2, SLC26A4 and mtDNA 12S rRNA genes are known to be the most common causes of nonsyndromic deafness in China ...first gene implicated in the causation of heredi- tary hearing ...of SLC26A4 ...

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Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

... The inclusion of the SLC26A4 gene in the molecular screening showed a higher frequency of mutations. Ten non-synonymous mutations were identified in 25 individ- uals (28.4%). Two mutations were located in ...

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Original Article Molecular genetics study of the locus of the midrange sensorineural deafness unique to the non-syndromes of ethnic minorities in Yunnan province

Original Article Molecular genetics study of the locus of the midrange sensorineural deafness unique to the non-syndromes of ethnic minorities in Yunnan province

... ed gene carrying rate and regional variation in patients with moderate to severe sensorineural deafness in ...GJB2 gene mutation is 21%, including 14.5% of SLC26A4 gene mutation and ...

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... members SLC26A4 (encoding for pendrin) and SLC5A5 were significantly downregulated in samples without consideration of FTC type, and in oncocytic FTC, respectively (Table ...that SLC26A4 has a tendency for ...

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Identification of SLC26A4 c 919 2A>G compound heterozygosity in hearing impaired patients to improve genetic counseling

Identification of SLC26A4 c 919 2A>G compound heterozygosity in hearing impaired patients to improve genetic counseling

... monoallelic SLC26A4 gene mutation might harbor a second uniden- tified mutation in the promoter or intronic regions of this ...heterozygous SLC26A4 mutation in com- bination with a heterozygous ...

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Claudin expression during early postnatal development of the murine cochlea

Claudin expression during early postnatal development of the murine cochlea

... of Slc26a4 gene deletion on inner ear devel- opmental expression of ...of Slc26a4 +/− and Slc26a4 −/− and analyzed by two-way ANOVA 1) Cldn- 11 , which is expressed in basal cells of stria ...

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Influence of dietary iodine deficiency on the thyroid gland in Slc26a4-null mutant mice

Influence of dietary iodine deficiency on the thyroid gland in Slc26a4-null mutant mice

... the SLC26A4 (PDS) gene can cause sensori- neural hearing loss with goiter (PDS) or non-syndromic recessive deafness with enlarged vestibular aqueduct ...the SLC26A4 gene have been reported in ...

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Towards the development of a gene mediated transformation system for the potato late blight pathogen Phytophthora infestans

Towards the development of a gene mediated transformation system for the potato late blight pathogen Phytophthora infestans

... phleomycin/bleomycin binding protein {blé) have been expressed in a wide range of phylogenetically distant hosts when driven by appropriate transcriptional control sequences, indicating they are not prone to such ...

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Isolation and Characterization Of Novel Egyptian Regulatory
Gene Tri 10 From Fusarium fujikuroi (MG211161)

Isolation and Characterization Of Novel Egyptian Regulatory Gene Tri 10 From Fusarium fujikuroi (MG211161)

... 10 gene fragment was isolated and characterized from Fusarium ...regulatory gene that control the pathway of cluster genes (Tri 3, Tri 5, Tri 4, Tri 8, Tri 6 and Tri 7) to produce T-2 ...The gene ...

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Efficient CRISPR–Cas9 mediated multiplex genome editing in yeasts

Efficient CRISPR–Cas9 mediated multiplex genome editing in yeasts

... of gene is usually required to gener- ate a detectable phenotype or obtain high productions of target products [43, ...target gene into the genome is an important method for increasing gene ...

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Dynamics and Heterogeneity of Gene Expression and Epigenetic Regulation at the Single-Cell Level

Dynamics and Heterogeneity of Gene Expression and Epigenetic Regulation at the Single-Cell Level

... Reporter cells expressing each of the four CRs were plated around 12 hours before imag- ing, at low density (1,500 cells/cm 2 ), on glass-bottom plates (MatTek) coated with 5g/ml hamster fibronectin (Oxford Biomedical ...

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Human Serum Paraoxonase (PON-1) and hemochromatosis gene (HFE) gene polymorphisms in occupationally exposed lead workers from Saudi Arabia

Human Serum Paraoxonase (PON-1) and hemochromatosis gene (HFE) gene polymorphisms in occupationally exposed lead workers from Saudi Arabia

... Studies on genes that are involved in the metabolic pathway directly or indirectly can help in understanding genetic susceptibility and potentially identify biomarkers of susceptibility. Two such genes of importance are ...

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Gene × gene and gene × environment interactions for complex disorders

Gene × gene and gene × environment interactions for complex disorders

... BioMed CentralBMC Proceedings ss Open AcceProceedings Gene ? gene and gene ? environment interactions for complex disorders Robert Culverhouse*1, Anthony L Hinrichs2, Carol H Jin2,3 and Brian K Suarez[.] ...

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Update on the olfactory receptor (OR) gene superfamily

Update on the olfactory receptor (OR) gene superfamily

... small receptor repertoire of 62 odourant recep- tors. 17 A comparison of 12 Drosophila species, encompassing 60 million years of divergence, shows that the number of functional OR genes has remained fairly stable. 18 ...

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Gene-carried hepatoma targeting complex induced high gene transfection efficiency with low toxicity and significant antitumor activity

Gene-carried hepatoma targeting complex induced high gene transfection efficiency with low toxicity and significant antitumor activity

... To further demonstrate the target properties caused by the peptide, competitive inhibition experiments were carried out. In this experiment, free peptide was primarily incubated with HepG2 cells before CPT/DNA were ...

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Parallel Recruitment of Multiple Genes into C-4 Photosynthesis

Parallel Recruitment of Multiple Genes into C-4 Photosynthesis

... quences from Arabidopsis were retrieved from the GenBank database using gene annotation. Arabidopsis was selected as the starting point of the analyses because it has the genome with the most complete annotation ...

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First detection of Candidatus Rickettsia barbariae in the flea Vermipsylla alakurt from north western China

First detection of Candidatus Rickettsia barbariae in the flea Vermipsylla alakurt from north western China

... Total genomic DNA of 53 fleas was extracted from indi- vidual specimens using the TIANamp Genomic DNA Kit (TIANGEN, Beijing, China). The DNA of six ran- domly selected fleas was employed for multi-locus se- quence ...

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