Výsledky vyhledávání - "Samane Nasrniya"

Akademický článek

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

Autor: Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi, Mohammad Amin Tabatabaiefar

Publikováno v: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)

Abstract Background Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) constitutes a major share

Externí odkaz: https://doaj.org/article/ce1312576bd5452a99c0ba2fb0d30240

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Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees

Autor: Mohammad Hussein Nilforoush, Mahsa Sepehrnejad, Sina Narrei, Hamidreza Abtahi, Mohammad Amin Tabatabaiefar, Paniz Miar, Samane Nasrniya

Publikováno v: Laboratory medicine. 53(2)

Background Hearing loss (HL) is the most prevalent and genetically heterogeneous sensory disabilities in humans throughout the world. Methods In this study, we used whole-exome sequencing (WES) to determine the variant causing autosomal recessive non

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19c8786917b79880bd525921ae79b9c2
https://pubmed.ncbi.nlm.nih.gov/34388253

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Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss

Autor: Hamidreza Abtahi, Akram Sarmadi, Sina Narrei, Zahra Nouri, Mohammad Amin Tabatabaiefar, Samane Nasrniya

Publikováno v: Molecular biology reports. 47(7)

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease, for which more than 70 genes have been identified. MYO15A mutations have been reported to cause congenital severe-to-profound HL. In this study, we applied the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db82a7951f562deb5098b6cb5f0ea42
https://pubmed.ncbi.nlm.nih.gov/32623615

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Normobaric hyperoxia (HO) preconditioning induces durable and effective neuroprotection against cerebral ischemia and mGluRII expression

Autor: Samane Nasrniya, Mohammad Reza Bigdeli

Publikováno v: Biomedicine & Aging Pathology. 3:137-144

Preconditioning/ischemic tolerance of brain refers to a natural adaptive response induced by sublethal insults to increase brain resistance after stroke. Molecular studies can contribute to clarify precise mechanism(s) of this neuroprotective phenome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a0705107cd3afdda80c67d5fbc207bed
https://doi.org/10.1016/j.biomag.2013.05.002

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Ischemic tolerance induced by normobaric hyperoxia and evaluation of group I and II metabotropic glutamate receptors

Autor: Mohammad Reza Bigdeli, Samane Nasrniya

Publikováno v: Current neurovascular research. 10(1)

Preconditioning-induced ischemic tolerance is one of the most important mechanisms, responsible for the increased brain resistance after stroke. Recent studies over the past years have provided interesting insights into the molecular mechanisms of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd2b2a12fca67148fd5ff3e0ca4fe0f0
https://pubmed.ncbi.nlm.nih.gov/23151072

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