Results 121 to 130 of about 8,863 (195)

Investigation of D7S496 marker characteristics in five Iranian ethnic groups for linkage analysis of autosomal recessive non syndromic hearing loss [PDF]

, 2014
Background and aims: The most important currently identifiable genetic cause of autosomal recessive non syndromic hearing loss (ARNSHL) after GJB2 mutations are the SLC26A4 gene mutations. In this investigation, the characteristics and informativeness of
Hashemzadeh-Chaleshtori, Morteza., Mojtabavi Naeini, Marjan., Vallian-Brojeni, Sadegh.   +2 more
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Mutation Identification in Exon 10 of SLC26A4 Gene in Individuals with Hearing Loss in Guilan Province

Bihdād, 2020
Introduction: Mutation in SLC26A4 gene is one of reason of syndromic and non-syndomic hearing loss. Mutation in this gene is reported to be the second most common cause of deafness in the worldwide, after GJB2 gene.
Omid Rezaei, Najmeh Ranji, Zeinab Khazaei Koohpar   +2 more
doaj  

Study of the association of DFNB3 locus with autosomal recessive non-syndromic hearing loss in iranian deaf population using genetic linkage analysis [PDF]

, 2014
Background: Hearing loss is a common sensory disorder that typically illustrates genetic heterogeneity in human populations. The incidence of congenital hearing loss is estimated at 1 in 500 births of which approximately 70 of cases are attributed to ...
Ataiee, Mitra., Hashemzadeh-Chaleshtori, Morteza., kasiri, mahboobeh., Minuchehr, Zarrin., PourJafari, Hamid Reza., Reiisi, Somayeh., Sanati, Mohammad Hossein., Shavarzi, Afsaneh., Tabatabaiefar, Mohammad Amin.   +8 more
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Bir grup Türk hastada SLC26A4 gen analizi

, 2020
SUMMARYSLC26A4 Gene Analysis in a Group of Turkish PatientsCongenital or prelingual onset hearing loss affects 1 in 1000 newborns, half of which isconsidered to be caused by genetic factors. Mutations in a number of genes manifestingthemselves with autosomal recessive inheritance are believed to be responsible inapproximately 80% of genetic cases ...
openaire   +1 more source

Mutation analysis of the SLC26A4 gene in three Chinese families.

Bioscience trends, 2020
In order to investigate the genetic causes of hearing loss in a Chinese proband (in Family A) with enlarged vestibular aqueduct (EVA) and to investigate the genotype of two Chinese probands with SLC26A4 singe-allelic mutation and normal hearing (in Families B and C, respectively), the three probands and their parents were clinically and genetically ...
Cheng, Wen, Shijie, Wang, Xuelei, Zhao, Xianlei, Wang, Xueyao, Wang, Xiaohua, Cheng, Lihui, Huang   +6 more
openaire   +1 more source

Pathway landscape and regulatory networks of epigenetically modified Breast Cancer genes [PDF]

Epigenetic changes are a key regulator of gene expression in different cancer histotypes. After investigating the differentially expressed genes upon treatment with a demethylating agent, e.g.
Capobianco, Enrico, Cinti, Caterina, El Baroudi, Mariama, La Sala, Dario   +3 more
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Mutation analysis of GJB2 and GJB6 genes and the genetic linkage analysis of five common DFNB loci in the Iranian families with autosomal recessive non-syndrom [PDF]

, 2010
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far.
Ashrafi, Koorosh., Farokhi, Effat., Gholami, A., Hashemzadeh-Chaleshtori, Morteza., Montazer Zohouri, Mostafa., Noori-Daloii, Mohammad Reza., Safari Chaleshtori, Javad., Shariati, Laleh., Tabatabaiefar, Mohammad Amin.   +8 more
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Superparamagnetic iron oxide polyacrylic acid coated {\gamma}-Fe2O3 nanoparticles does not affect kidney function but causes acute effect on the cardiovascular function in healthy mice

, 2012
This study describes the distribution of intravenously injected polyacrylic acid (PAA) coated {\gamma}-Fe2O3 NPs (10 mg kg-1) at the organ, cellular and subcellular levels in healthy BALB/cJ mice and in parallel addresses the effects of NP injection on ...
Baatrup, Erik, Berret, Jean-Francois, Bie, Peter, Fresnais, Jérome, Frische, Sebastian, Hansen, Pernille B. L., Iversen, Nina K., Laustsen, Christoffer, Pedersen, Michael, Thomsen, Karen, Wang, Tobias   +10 more
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Enlarged vestibular aqueduct in cochlear implant patients [PDF]

, 2009
Vidgad vestibularakvedukt (EVA) är en inneröremissbildning och en vanlig orsak till ärftlig hörselnedsättning. Hörselnedsättningen är ofta av kombinerad typ och orsaken till den konduktiva komponenten antas ligga i innerörat. EVA diagnostiseras med hjälp
Hatt, Sanne, Öinert, Adam
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Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay

BMC Medical Genomics
Background The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA)
Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zhao   +8 more
doaj   +1 more source