Zobrazeno 1 - 10
of 178
pro vyhledávání: '"Mohammad Amin, Tabatabaiefar"'
Autor:
Aliasgar Mohammadi, Marziyeh Hoseinzadeh, Sina Narrei, Mohammad Reza Pourreza, Yousof Mohammadi, Mahnaz Norouzi, Ladan Sadeghian, Mohammad Amin Tabatabaiefar
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-8 (2024)
Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system. SNHL can occur as a symptom in more than 400 syndromes, and mutations in more than 150 genes can lead to SN
Externí odkaz:
https://doaj.org/article/b98c4e75825f442c92fc2d8bd2454865
Autor:
Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Background Autosomal recessive non-syndromic hearing loss (NSHL) and cone dystrophies (CODs) are highly genetically and phenotypically heterogeneous disorders. In this study, we applied the whole exome sequencing (WES) to find the cause of H
Externí odkaz:
https://doaj.org/article/0953796e171344b2b31b2ac8dbdb4ba3
Autor:
Emran Esmaeilzadeh, Sajjad Biglari, Meysam Mosallaei, Hamid Reza Khorram Khorshid, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Objective Mammalian Diaphanous‐Related Formin (mDia1), which is encoded by the DIAPH1 gene, serves as essential for the regulation of cell morphology and cytoskeletal organization. The role of DIAPH1 in brain development has been extensive
Externí odkaz:
https://doaj.org/article/66c7a0802f3d4e8a93f536720d4954cb
Autor:
Sajjad Biglari, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar, Hamid Reza Khorram Khorshid, Emran Esmaeilzadeh
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Hypomyelinating leukodystrophy‐9 (HLD‐9) is caused by biallelic pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for arginine (ArgRS). This study aims to evaluate the clinical, neuroradiological, a
Externí odkaz:
https://doaj.org/article/3db4072ee00842fd85063a977604b46b
Autor:
Atefeh Mir, Yongjun Song, Hane Lee, Hossein Khanahmad, Erfan Khorram, Jafar Nasiri, Mohammad Amin Tabatabaiefar
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-20 (2023)
Abstract Aim and Objective Intellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode of inheritance of ID (X-linked intellectual disability; XLID) has a prevalence of 1 out of
Externí odkaz:
https://doaj.org/article/f0e24bdf599b49d89ab47fdc8095f7fc
Publikováno v:
Middle East Journal of Cancer, Vol 14, Iss 2, Pp 300-308 (2023)
Lynch syndrome (LS) predisposes individuals to early-onset colorectal and other Lynch-associated cancer. This disorder is an autosomal dominant genetic disturbance caused by germline mutations in one of the mismatch repair genes. Different clinical a
Externí odkaz:
https://doaj.org/article/61c4ec0402ba4e588bbc747f4ffab19b
Autor:
Atefeh Mir, Yongjun Song, Hane Lee, Mostafa Montazer‐Zohouri, Marziyeh Reisi, Mohammad Amin Tabatabaiefar
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background ZNF142 gene is a protein‐coding gene encoding Zinc Finger Protein 142. ZNF proteins are a vast group of cellular effectors with a wide range of functions such as signal transduction, transcriptional regulation, meiotic recombina
Externí odkaz:
https://doaj.org/article/58dfad2934894f18afc257c0d3bf2df2
Using classification and K-means methods to predict breast cancer recurrence in gene expression data
Publikováno v:
Journal of Medical Signals and Sensors, Vol 12, Iss 2, Pp 122-126 (2022)
Background: Breast cancer is a type of cancer that starts in the breast tissue and affects about 10% of women at different stages of their lives. In this study, we applied a new method to predict recurrence in biological networks made from gene expre
Externí odkaz:
https://doaj.org/article/10397d39d3374c3698b07d30d9ee2ee2
Autor:
Zahra Ataei, Zahra Nouri, Farial Tavakoli, Mohammad Reza Pourreza, Sina Narrei, Mohammad Amin Tabatabaiefar
Publikováno v:
PLoS ONE, Vol 18, Iss 2, p e0282304 (2023)
Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disease caused by a deficiency in the arylsulfatase A (ARSA). ARSA deficiency leads to sulfatide accumulation, which involves progressive demyelination. The profound impact o
Externí odkaz:
https://doaj.org/article/57f0200876094071a9f6057d8a9ded74
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Among an assortment of genetic variations, Missense are major ones which a small subset of them may led to the upset of the protein function and ultimately end in human diseases. Various machine learning methods were declared to differentiat
Externí odkaz:
https://doaj.org/article/0268acfec0984285bcbbf48746c6d86e