Investigation the role of SIRT3, SIRT7, NFATC1, and PDL-1 genes in androgenetic alopecia

Authors: Hadis Abbasian, Mehrdad Noruzinia, Masoud Garshasbi

Source: BMC Research Notes, Vol 17, Iss 1, Pp 1-12 (2024)

Subject Terms: Androgenetic alopecia, SIRT7, SIRT3, NFATC1, PDL1, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390

File Description: electronic resource

Relation: https://doaj.org/toc/1756-0500

Access URL: https://doaj.org/article/70834bdfefb24449a1ce1c639afc681f

A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9)

Authors: Seyyed Mohammad Kahani, Ali Rabbizadeh Saray, Mir Salar Kahaei, Ali Dehghani, Pouria Mohammadi, Masoud Garshasbi

Source: BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)

Subject Terms: Albinism, Hermansky-pudlock syndrome type 9, Whole exome sequencing, Primer-walking, GAP-PCR, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/41e03dc6fff14af98a32c56322293656

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population

Authors: 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

Source: Human Genomics, Vol 18, Iss 1, Pp 1-18 (2024)

Subject Terms: Autosomal recessive cerebellar ataxia, Ataxia, Hereditary cerebellar ataxia, Spinocerebellar ataxia, Iranian population, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/73901f9896264335a878fdd5b263980b

Hsa-miR-194-5p and hsa-miR-195-5p are down-regulated expressed in high dysplasia HPV-positive Pap smear samples compared to normal cytology HPV-positive Pap smear samples

Authors: Ali Dehghani, Fardin Khajepour, Mohammad Dehghani, Ehsan Razmara, Mohammadreza Zangouey, Maryam Fekri Soofi Abadi, Reza Bahram Abadi Nezhad, Shahriar Dabiri, Masoud Garshasbi

Source: BMC Infectious Diseases, Vol 24, Iss 1, Pp 1-13 (2024)

Subject Terms: Cervical cancer, Cervical dysplasia, Human papillomavirus, Hsa-miR-194-5p, Hsa-miR-195-5p, Infectious and parasitic diseases, RC109-216

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2334

Access URL: https://doaj.org/article/a9d5f9d5efbc41ef9d4694b45a3f2ede

123VCF: an intuitive and efficient tool for filtering VCF files

Authors: Milad Eidi, Samaneh Abdolalizadeh, Soheila Moeini, Masoud Garshasbi, Javad Zahiri

Source: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-7 (2024)

Subject Terms: Next generation sequencing, VCF, VCF filtering, Variant analysis, Variant filtering, Exome sequencing, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2105

Access URL: https://doaj.org/article/22741d86c40842f781412b7a987cd661

Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12

Authors: Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah

Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-22 (2023)

Subject Terms: Hearing loss, Polyneuropathy, Retinitis pigmentosa, Ataxia, Cataract, PHARC, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/3d3039bb6e094fa08737ec43ea18b442

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature

Authors: Naser Gilani, Fatemeh Bitarafan, Mehmet Ozaslan, Sarah Åsheim, Morteza Heidari, Masoud Garshasbi

Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)

Subject Terms: disease‐associated microglia (DAM), genetic variations, Nasu‐Hakola disease (NHD), neurodegenerative disorders, TREM2, whole‐exome sequencing (WES), Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/f40c1a895e6f4af7b8244fd2bf0d8d5f

Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

Authors: Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari, Masoud Garshasbi

Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)

Subject Terms: Cayman cerebellar ataxia, ATCAY, c.883_884del, p.(Lys295AspfsTer52), Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/d38a11c9fb3e40caa506dce85717a141

Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report

Authors: Fatemeh Bitarafan, Mehrnoosh Khodaeian, Fatemeh Garrousi, Raziyeh Khalesi, Donya Ghazi Nader, Behnam Karimi, Reza Alibakhshi, Masoud Garshasbi

Source: BMC Endocrine Disorders, Vol 23, Iss 1, Pp 1-10 (2023)

Subject Terms: Laron Syndrome (LS), GHR, Whole Exome Sequencing (WES), Iranian population, Case report, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1472-6823

Access URL: https://doaj.org/article/db3b690ee9a24323b8855126b00ef7cb

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

Authors: 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

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-18 (2023)

Subject Terms: Neuroaxonal dystrophy, Mutation, PLA2G6, PLAN, INAD, PLA2G6-associated dystonia–parkinsonism, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/33b08d5b1a9846ac9b6a4cfa26acdbbd

The genetic landscape and possible therapeutics of neurofibromatosis type 2

Authors: Mohammad Amin Ghalavand, Alimohamad Asghari, Mohammad Farhadi, Farzad Taghizadeh-Hesary, Masoud Garshasbi, Masoumeh Falah

Source: Cancer Cell International, Vol 23, Iss 1, Pp 1-27 (2023)

Subject Terms: Neurofibromatosis type 2, NF2, Merlin, Meningiomas, Vestibular schwannoma, Acoustic neuroma, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/1475-2867

Access URL: https://doaj.org/article/4f8195ce18a6490e80e5475a4770417e

Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers

Authors: Mohammad Farid Mohammadi, Sahand Tehrani Fateh, Hadi Aghajani, Afshin Bahramy, Seyed Mohammad Salar Zaheryani, Javad Behroozi, Seyyed Mohammad Kahani, Pouria Mohammadi, Masoud Garshasbi

Source: Clinical Case Reports, Vol 11, Iss 10, Pp n/a-n/a (2023)

Subject Terms: COLQ, congenital myasthenic syndrome, qRT‐PCR, symptomatic carriers, whole‐exome sequencing, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2050-0904

Access URL: https://doaj.org/article/df4b91691d194b778f63d76417dd44d8

Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report

Authors: Safoura Zardadi, Ehsan Razmara, Maryam Rasoulinezhad, Meisam Babaei, Mohammad Reza Ashrafi, Neda Pak, Masoud Garshasbi, Ali Reza Tavasoli

Source: BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)

Subject Terms: Alexander disease, AxD type II, GFAP, Vomiting, Steroid, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/cc91b266d8c64d17bc74cb7d61b839e0

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

Authors: Mehdi Agha Gholizadeh, Mina Mohammadi-Sarband, Fatemeh Fardanesh, Masoud Garshasbi

Source: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)

Subject Terms: PRUNE1, Neurodevelopmental disorder, NMIHBA, Whole-exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/4aca95e8743e41c7b96526d7f9213199

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report

Authors: Fatemeh Rajabi, Ali Hosseini Bereshneh, Mahboubeh Ramezanzadeh, Masoud Garshasbi

Source: BMC Pediatrics, Vol 22, Iss 1, Pp 1-6 (2022)

Subject Terms: Desbuquois dysplasia 2, XYLT1 mutations, Skeletal dysplasia, Compound heterozygous, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/d185d86edf434be993a75ee556d08db3

Prevalence and Genotype Distribution of Human Papillomavirus Infection among 12 076 Iranian Women

Authors: Fatemeh Bitarafan, Mohammad Reza Hekmat, Mehrnoosh Khodaeian, Ehsan Razmara, Tahereh Ashrafganjoei, Mitra Modares Gilani, Mitra Mohit, Soheila Aminimoghaddam, Fatemeh Cheraghi, Raziyeh Khalesi, Parnian Rajabzadeh, Soheila Sarmadi, Masoud Garshasbi

Source: International Journal of Infectious Diseases, Vol 111, Iss , Pp 295-302 (2021)

Subject Terms: Cervical cancer, Human papillomavirus, Iranian population, Genotype distribution, Infectious and parasitic diseases, RC109-216

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1201971221006287; https://doaj.org/toc/1201-9712

Access URL: https://doaj.org/article/6bbfc53bf01742968e650d946c0a14cf

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Authors: Ali Zare Dehnavi, Erfan Heidari, Maryam Rasulinezhad, Morteza Heidari, Mahmoud Reza Ashrafi, Mohammad Mahdi Hosseini, Fatemeh Sadeghzadeh, Mohammad-Sadegh Fallah, Noushin Rostampour, Amir Bahraini, Masoud Garshasbi, Ali Reza Tavasoli

Source: Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)

Subject Terms: Leukodystrophy, Alkaline Ceramidase 3, Whole-exome sequencing, Magnetic resonance imaging, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/11a6570647ec48b3b59482b202f47060

Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

Authors: 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

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/1a7e2a9cd0cb490ba3fb6216410a703b

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

Authors: Raziyeh Khalesi, Ehsan Razmara, Golareh Asgaritarghi, Ali Reza Tavasoli, Yasser Riazalhosseini, Daniel Auld, Masoud Garshasbi

Source: BMC Neurology, Vol 21, Iss 1, Pp 1-13 (2021)

Subject Terms: PCR-RFLP, RAB3GAP1, Tetra-primer ARMS-PCR, WARBM type 1, Whole-exome sequencing, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2377

Access URL: https://doaj.org/article/78677873f1ef47f8ab7c6024b1c27cb5

Biomarker discovery by imperialist competitive algorithm in mass spectrometry data for ovarian cancer prediction

Authors: Shiva Pirhadi, Keivan Maghooli, Niloofar Yousefi Moteghaed, Masoud Garshasbi, Seyed Jalaleddin Mousavirad

Source: Journal of Medical Signals and Sensors, Vol 11, Iss 2, Pp 108-119 (2021)

Subject Terms: biomarker discovery, imperialist competitive algorithm, mass spectrometry high-throughput proteomics data, ovarian cancer, Medical technology, R855-855.5

File Description: electronic resource

Relation: http://www.jmssjournal.net/article.asp?issn=2228-7477;year=2021;volume=11;issue=2;spage=108;epage=119;aulast=Pirhadi; https://doaj.org/toc/2228-7477

Access URL: https://doaj.org/article/397f4bbe559e43628fa267b4e630bf97