Search Results - "Bitarafan, Fatemeh"

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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Prevalence and Genotype Distribution of Human Papillomavirus Infection among 12 076 Iranian Women by Bitarafan, Fatemeh, Hekmat, Mohammad Reza, Khodaeian, Mehrnoosh, Razmara, Ehsan, Ashrafganjoei, Tahereh, Modares Gilani, Mitra, Mohit, Mitra, Aminimoghaddam, Soheila, Cheraghi, Fatemeh, Khalesi, Raziyeh, Rajabzadeh, Parnian, Sarmadi, Soheila, Garshasbi, Masoud

“…•Human papillomavirus (HPV) is a major concern for women in developing countries•In this study, HPV prevalence was calculated at 38.68% in Iranian women•The…”
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Homozygous TREM2 c.549del; p.(Leu184Serfs5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature by Gilani, Naser, Bitarafan, Fatemeh, Ozaslan, Mehmet, Åsheim, Sarah, Heidari, Morteza, Garshasbi, Masoud

“…Background The Triggering Receptor Expressed on Myeloid Cells 2 protein (TREM2) plays a crucial role in various biological processes, including osteoclast…”
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Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report by Bitarafan, Fatemeh, Khodaeian, Mehrnoosh, Garrousi, Fatemeh, Khalesi, Raziyeh, Ghazi Nader, Donya, Karimi, Behnam, Alibakhshi, Reza, Garshasbi, Masoud

“…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…”
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Isolated Congenital Anosmia and CNGA2 Mutation by Sailani, M. Reza, Jingga, Inlora, MirMazlomi, Seyed Hashem, Bitarafan, Fatemeh, Bernstein, Jonathan A., Snyder, Michael P., Garshasbi, Masoud

“…Isolated congenital anosmia (ICA) is a rare condition that is associated with life-long inability to smell. Here we report a genetic characterization of a…”
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Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family by Bitarafan, Fatemeh, Khodaeian, Mehrnoosh, Amjadi Sardehaei, Elham, Darvishi, Fatemeh Zahra, Almadani, Navid, Nilipour, Yalda, Garshasbi, Masoud

“…Background Ca 2+ as a universal second messenger regulates basic biological functions including cell cycle, cell proliferation, cell differentiation, and cell…”
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Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome by Bitarafan, Fatemeh, Razmara, Ehsan, Khodaeian, Mehrnoosh, Keramatipour, Mohammad, Kalhor, Alireza, Jafarinia, Ehsan, Garshasbi, Masoud

“…Background Marfan syndrome (MFS) is a multi‐systemic autosomal dominant disease of the connective tissue characterized by the early development of thoracic…”
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The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families by Razmara, Ehsan, Bitarafan, Fatemeh, Esmaeilzadeh-Gharehdaghi, Elika, Almadani, Navid, Garshasbi, Masoud

“…Targeted next-generation sequencing (NGS) provides a consequential opportunity to elucidate genetic factors in known diseases, particularly in profoundly…”
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A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family by Sepahvand, Afrooz, Razmara, Ehsan, Bitarafan, Fatemeh, Galehdari, Mohammad, Tavasoli, Ali Reza, Almadani, Navid, Garshasbi, Masoud

“…Background Homozygous loss‐of‐function mutations in TSEN54 (tRNA splicing endonuclease subunit 54; OMIM: 608755) cause different types of pontocerebellar…”
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Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss by Zardadi, Safoura, Razmara, Ehsan, Asgaritarghi, Golareh, Jafarinia, Ehsan, Bitarafan, Fatemeh, Rayat, Sima, Almadani, Navid, Morovvati, Saeid, Garshasbi, Masoud

“…Background Hereditary hearing loss (HL) is a heterogeneous and most common sensory neural disorder. At least, 76 genes have been reported in association with…”
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Polymorphisms of Antioxidant Genes as a Target for Diabetes Management by Tabatabaei-Malazy, Ozra, Khodaeian, Mehrnoosh, Bitarafan, Fatemeh, Larijani, Bagher, M Amoli, Mahsa

“…Diabetes mellitus (DM) is one of the most important health problems with increasing prevalence worldwide. Oxidative stress, a result of imbalance between…”
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SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria by Hasani-Ranjbar, Shirin, Ejtahed, Hanieh-Sadat, Amoli, Mahsa M., Bitarafan, Fatemeh, Qorbani, Mostafa, Soltani, Akbar, Yarjoo, Bahareh

“…To describe clinical findings, biochemical profile and genetic analysis in an Iranian kindred with hereditary hypophosphatemic rickets with hypercalciuria…”
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A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report by Bitarafan, Fatemeh, Razmara, Ehsan, Jafarinia, Ehsan, Almadani, Navid, Garshasbi, Masoud

“…Background DNA‐directed RNA polymerase II subunit 3 (RPB3) is the third largest subunit of RNA polymerase II and is encoded by the POLR2C (OMIM:180663). A…”
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Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease by Bitarafan, Fatemeh, Garshasbi, Masoud

“…Introduction. A wide variety of mutations are spread throughout the PKHD1 gene, which encodes a 4074-bp amino acid protein, namely fibrocystin/polyductin, and…”
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Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia by Jamali, Ebrahim, Khalesi, Raziyeh, Bitarafan, Fatemeh, Almadani, Navid, Garshasbi, Masoud

“…Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of Cleidocranial dysplasia (CCD),…”
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Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next‐generation sequencing by Bitarafan, Fatemeh, Seyedena, Seyed Yousef, Mahmoudi, Mahdi, Garshasbi, Masoud

“…Background The extremely high genetic heterogeneity of hearing loss due to diverse group of genes encoding proteins required for development, function, and…”
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Biallelic INDUFA4/I Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome by Misceo, Doriana, Strømme, Petter, Bitarafan, Fatemeh, Chawla, Maninder Singh, Sheng, Ying, Bach de Courtade, Sandra Monica, Eide, Lars, Frengen, Eirik

“…Oxidative phosphorylation involves a complex multi-enzymatic mitochondrial machinery critical for proper functioning of the cell, and defects herein cause a…”
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Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage by Khodaeian, Mehrnoosh, Bitarafan, Fatemeh, Garrousi, Fatemeh, Sardehie, Elham Amjadi, Pak, Neda, Hosseinpour, Sareh, Shakiba, Marjan, Falah, Masoumeh, Garshasbi, Masoud, Tavasoli, Ali Reza

“…Background NARS2 encodes mitochondrial Asparaginyl‐tRNA Synthetase 2, which catalyzes the aminoacylation of tRNA‐Asn in the mitochondria. To date, 24 variants…”
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Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay by Bitarafan, Fatemeh, Khodaeian, Mehrnoosh, Almadani, Navid, Kalhor, Alireza, Sardehaei, Elham Amjadi, Garshasbi, Masoud

“…Pathogenic variants within polynucleotide kinase 3′phosphatase (PNKP) gene cause microcephaly, seizures, and developmental delay (MCSZ) and ataxia-oculomotor…”
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Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A by Khodaeian, Mehrnoosh, Jafarinia, Ehsan, Bitarafan, Fatemeh, Shafeii, Shohreh, Almadani, Navid, Daneshmand, Mohammad Ali, Garshasbi, Masoud

“…Kabuki syndrome (KS) is a rare genetic disorder characterized by the following 5 crucial symptoms: dysmorphic facial features, growth retardation, skeletal…”
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