Search Results - "Garshasbi, Masoud"

Genetic implications in the pathogenesis of rheumatoid arthritis; an updated review by Karami, Jafar, Aslani, Saeed, Jamshidi, Ahmadreza, Garshasbi, Masoud, Mahmoudi, Mahdi

“…Three important factors, including genetics, environment factors and autoimmunity play a role in the pathogenesis of rheumatoid arthritis (RA). The…”
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123VCF: an intuitive and efficient tool for filtering VCF files by Eidi, Milad, Abdolalizadeh, Samaneh, Moeini, Soheila, Garshasbi, Masoud, Zahiri, Javad

“…The advent of Next-Generation Sequencing (NGS) has catalyzed a paradigm shift in medical genetics, enabling the identification of disease-associated variants…”
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Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease by Razmara, Ehsan, Garshasbi, Masoud

“…Myosin VI, encoded by MYH6, is expressed dominantly in human cardiac atria and plays consequential roles in cardiac muscle contraction and comprising the…”
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A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4 by Eidi, Milad, Garshasbi, Masoud

“…Multiple Mitochondrial Dysfunctions Syndrome 4 (MMDS4) is manifested as a result of ISCA2 mutations. ISCA2 is a vital component of 4Fe-4S clusters assembly…”
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Non-Coding RNAs in Cartilage Development: An Updated Review by Razmara, Ehsan, Bitaraf, Amirreza, Yousefi, Hassan, Nguyen, Tina H, Garshasbi, Masoud, Cho, William Chi-Shing, Babashah, Sadegh

“…In the development of the skeleton, the long bones are arising from the process of endochondral ossification (EO) in which cartilage is replaced by bone. This…”
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An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies by Ashrafi, Mahmoud Reza, Amanat, Man, Garshasbi, Masoud, Kameli, Reyhaneh, Nilipour, Yalda, Heidari, Morteza, Rezaei, Zahra, Tavasoli, Ali Reza

“…: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions…”
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A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9) by Kahani, Seyyed Mohammad, Saray, Ali Rabbizadeh, Kahaei, Mir Salar, Dehghani, Ali, Mohammadi, Pouria, Garshasbi, Masoud

“…Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe…”
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Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability by Heidari, Erfan, Caddeo, Andrea, Zarabadi, Kiana, Masoudi, Maryam, Tavasoli, Ali Reza, Romeo, Stefano, Garshasbi, Masoud

“…The membrane bound O-acyltransferase domain-containing 7 (MBOAT7) gene codes for an enzyme involved in regulating arachidonic acid incorporation in…”
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Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report by Rajabi, Fatemeh, Bereshneh, Ali Hosseini, Ramezanzadeh, Mahboubeh, Garshasbi, Masoud

“…Desbuquois dysplasia type 2 (DBQD2) is an infrequent dysplasia with a wide range of symptoms, including facial deformities, growth retardation and short long…”
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The genetic landscape and possible therapeutics of neurofibromatosis type 2 by Ghalavand, Mohammad Amin, Asghari, Alimohamad, Farhadi, Mohammad, Taghizadeh-Hesary, Farzad, Garshasbi, Masoud, Falah, Masoumeh

“…Neurofibromatosis type 2 (NF2) is a genetic condition marked by the development of multiple benign tumors in the nervous system. The most common tumors…”
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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 by Gholizadeh, Mehdi Agha, Mohammadi-Sarband, Mina, Fardanesh, Fatemeh, Garshasbi, Masoud

“…Homozygous or compound heterozygous PRUNE1 mutations cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations…”
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Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum by Heidari, Erfan, Harrison, Alexander N., Jafarinia, Ehsan, Tavasoli, Ali Reza, Almadani, Navid, Molday, Robert S., Garshasbi, Masoud

“…ATP8A2 is a P4‐ATPase that flips phosphatidylserine across membranes to generate and maintain transmembrane phospholipid asymmetry. Loss‐of‐function variants…”
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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 by Siavashani, Elham Salehi, Ashrafi, Mahmoud Reza, Ghabeli, Homa, Heidari, Morteza, Garshasbi, Masoud

“…Abstract Background Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected…”
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Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report by Hosseini Bereshneh, Ali, Garshasbi, Masoud

“…The neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the…”
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Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease by Bitarafan, Fatemeh, Garshasbi, Masoud

“…Background: Dysfunction of polycystin-1 or polycystin-2, the proteins encoded by polycystic kidney disease 1 (PKD1) and PKD2, respectively, are the cause of…”
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The identification of two pathogenic variants in a family with mild and severe forms of developmental delay by Miyake, Noriko, Heydari, Shermineh, Garshasbi, Masoud, Saitoh, Shinji, Nasiri, Jafar, Hamanaka, Kohei, Takata, Atsushi, Matsumoto, Naomichi, Beheshti, Farnaz Hosseini, Chaleshtori, Ahmad Reza Salehi

“…Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The…”
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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 by Dehghani, Ali, Khajepour, Fardin, Dehghani, Mohammad, Razmara, Ehsan, Zangouey, Mohammadreza, Abadi, Maryam Fekri Soofi, Nezhad, Reza Bahram Abadi, Dabiri, Shahriar, Garshasbi, Masoud

“…The human papillomavirus (HPV) infection may affect the miRNA expression pattern during cervical cancer (CC) development. To demonstrate the association…”
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Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report by Daneshjoo, Omid, Garshasbi, Masoud

“…Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other…”
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Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis by Timmermann, Bernd, Kerick, Martin, Roehr, Christina, Fischer, Axel, Isau, Melanie, Boerno, Stefan T, Wunderlich, Andrea, Barmeyer, Christian, Seemann, Petra, Koenig, Jana, Lappe, Michael, Kuss, Andreas W, Garshasbi, Masoud, Bertram, Lars, Trappe, Kathrin, Werber, Martin, Herrmann, Bernhard G, Zatloukal, Kurt, Lehrach, Hans, Schweiger, Michal R

“…Colorectal cancer (CRC) is with approximately 1 million cases the third most common cancer worldwide. Extensive research is ongoing to decipher the underlying…”
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Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS by Garshasbi, Masoud, Mahmoudi, Mahdi, Razmara, Ehsan, Vojdanian, Mahdi, Aslani, Saeed, Farhadi, Elham, Jensen, Lars Riff, Arzaghi, Seyed Masoud, Poursani, Shiva, Bitaraf, Amirreza, Eidi, Milad, Gharehdaghi, Elika Esmaeilzadeh, Kuss, Andreas Walter, Jamshidi, Ahmadreza

“…Ankylosing spondylitis (AS) is a common complex inflammatory disease; however, up to now distinct genes with monogenic pattern have not been reported for this…”
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