Zobrazeno 1 - 10
of 172
pro vyhledávání: '"Masoud, Garshasbi"'
Autor:
Seyyed Mohammad Kahani, Ali Rabbizadeh Saray, Mir Salar Kahaei, Ali Dehghani, Pouria Mohammadi, Masoud Garshasbi
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Background Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease. Symptoms include skin and ha
Externí odkaz:
https://doaj.org/article/41e03dc6fff14af98a32c56322293656
Autor:
Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran, Mohammad Rohani, Narges Khanbanha, Sedigheh Nikbakht, Mojtaba Movahedinia, Parviz Karimi, Homa Ghabeli, Seyed Ahmad Hosseini, Fatemeh Sadat Rashidi, Masoud Garshasbi, Morteza Rezvani Kashani, Noor M. Ghiasvand, Stephan Zuchner, Matthis Synofzik, Mahmoud Reza Ashrafi
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-18 (2024)
Abstract Background To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children’s Medical Center (CMC), the primary referral center for pediatric disorders in the country, over a three-year
Externí odkaz:
https://doaj.org/article/73901f9896264335a878fdd5b263980b
Autor:
Ali Dehghani, Fardin Khajepour, Mohammad Dehghani, Ehsan Razmara, Mohammadreza Zangouey, Maryam Fekri Soofi Abadi, Reza Bahram Abadi Nezhad, Shahriar Dabiri, Masoud Garshasbi
Publikováno v:
BMC Infectious Diseases, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background The human papillomavirus (HPV) infection may affect the miRNA expression pattern during cervical cancer (CC) development. To demonstrate the association between high-risk HPVs and the development of cervix dysplasia, we examined t
Externí odkaz:
https://doaj.org/article/a9d5f9d5efbc41ef9d4694b45a3f2ede
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-7 (2024)
Abstract Background The advent of Next-Generation Sequencing (NGS) has catalyzed a paradigm shift in medical genetics, enabling the identification of disease-associated variants. However, the vast quantum of data produced by NGS necessitates a robust
Externí odkaz:
https://doaj.org/article/22741d86c40842f781412b7a987cd661
Autor:
Naser Gilani, Fatemeh Bitarafan, Mehmet Ozaslan, Sarah Åsheim, Morteza Heidari, Masoud Garshasbi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background The Triggering Receptor Expressed on Myeloid Cells 2 protein (TREM2) plays a crucial role in various biological processes, including osteoclast differentiation, and disease‐associated microglia (DAM) activation to regulate neuro
Externí odkaz:
https://doaj.org/article/f40c1a895e6f4af7b8244fd2bf0d8d5f
Autor:
Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-22 (2023)
Abstract Background Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerative disease. PHARC
Externí odkaz:
https://doaj.org/article/3d3039bb6e094fa08737ec43ea18b442
Autor:
Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari, Masoud Garshasbi
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)
Abstract Background Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagmus, intention trem
Externí odkaz:
https://doaj.org/article/d38a11c9fb3e40caa506dce85717a141
Autor:
Fatemeh Bitarafan, Mehrnoosh Khodaeian, Fatemeh Garrousi, Raziyeh Khalesi, Donya Ghazi Nader, Behnam Karimi, Reza Alibakhshi, Masoud Garshasbi
Publikováno v:
BMC Endocrine Disorders, Vol 23, Iss 1, Pp 1-10 (2023)
Abstract Background Human growth hormone (hGH) plays a crucial role in growth by binding to growth hormone receptor (GHR) in target cells. Binding of GH molecules to their cognate receptors triggers downstream signaling pathways leading to the transc
Externí odkaz:
https://doaj.org/article/db3b690ee9a24323b8855126b00ef7cb
Autor:
Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-18 (2023)
Abstract Background Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-p
Externí odkaz:
https://doaj.org/article/33b08d5b1a9846ac9b6a4cfa26acdbbd
Autor:
Mohammad Amin Ghalavand, Alimohamad Asghari, Mohammad Farhadi, Farzad Taghizadeh-Hesary, Masoud Garshasbi, Masoumeh Falah
Publikováno v:
Cancer Cell International, Vol 23, Iss 1, Pp 1-27 (2023)
Abstract Neurofibromatosis type 2 (NF2) is a genetic condition marked by the development of multiple benign tumors in the nervous system. The most common tumors associated with NF2 are bilateral vestibular schwannoma, meningioma, and ependymoma. The
Externí odkaz:
https://doaj.org/article/4f8195ce18a6490e80e5475a4770417e