En
  • دکتری (1388)

    ژنتیک انسانی

    برلین، آلمان

  • کارشناسی‌ارشد (1382)

    ژنتیک انسانی

    دانشگاه علوم بهزیستی و توانبخشی تهران / رشته های پزشکی /، ایران

  • کارشناسی (1380)

    زیست شناسی - علوم جانوری

    دانشگاه فردوسی مشهد،

    داده ای یافت نشد

    داده ای یافت نشد

    Complex III Mitochondrial Leukoencephalopathy Masquerading Acute Demyelinating Syndrome Due to a Novel Variant in CYC1

    Erfan Heidari, Maryam Rasoulinezhad, Neda Pak, Mahmoud Reza Ashrafi, Morteza Heidari, Brenda Banwell, Masoud Garshasbi, Ali Reza Tavasoli
    Journal Papers , 2021 February 23, {Pages }

    Abstract

    BackgroundComplex III (CIII) is the third out of ve mitochondrial respiratory chain complexes residing at the mitochondrial inner membrane. The assembly of 10 subunits encoded by nuclear DNA and one by mitochondrial DNA result in the functional CIII which transfers electrons from ubiquinol to cytochrome c. De ciencies of CIII are among the least investigated mitochondrial disorders and thus clinical spectrum of patients with mutations in CIII is not well de ned.

    Kabuki Syndrome: Identification of Two Novel Variants in KMT2Dand KDM6A

    Mehrnoosh Khodaeian, Ehsan Jafarinia, Fatemeh Bitarafan, Shohreh Shafeii, Navid Almadani, Mohammad Ali Daneshmand, Masoud Garshasbi
    Journal PapersMolecular Syndromology , 2021 February 17, {Pages 09-Jan }

    Abstract

    Kabuki syndrome (KS) is a rare genetic disorder characterized by the following 5 crucial symptoms: dysmorphic facial features, growth retardation, skeletal abnormalities, intellectual disability, and dermatoglyphic malformations. Studies show that most of the KS cases are caused by mutations or large deletions in the KMT2D gene, while the other cases show mutations in KDM6A. We studied 2 patients with suspected KS in 2 unrelated families by whole-exome sequencing to identify the possible genetic cause(s) and by Sanger sequencing to validate the identified variants and check the segregation in other members of the families. Finally, the potential effects of the variants on the structure and function of respective proteins were tested using i

    The oncogenic and tumor suppressive roles of RNA‐binding proteins in human cancers

    Amirreza Bitaraf, Ehsan Razmara, Babak Bakhshinejad, Hassan Yousefi, Mousa Vatanmakanian, Masoud Garshasbi, William C Cho, Sadegh Babashah
    Journal Papers , 2021 February 8, {Pages }

    Abstract

    Posttranscriptional regulation is a mechanism for the cells to control gene regulation at the RNA level. In this process, RNA‐binding proteins (RBPs) play central roles and orchestrate the function of RNA molecules in multiple steps. Accumulating evidence has shown that the aberrant regulation of RBPs makes ?contributions?to the initiation and progression of tumorigenesis via numerous mechanisms such as genetic changes, epigenetic alterations, and noncoding RNA‐mediated regulations. In this article, we review the effects caused by RBPs and their functional diversity in the malignant transformation of cancer cells that occurs through the involvement of these proteins in various stages of RNA regulation including alternative splicing, st

    Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum

    Erfan Heidari, Alexander N Harrison, Ehsan Jafarinia, Ali Reza Tavasoli, Navid Almadani, Robert S Molday, Masoud Garshasbi
    Journal PapersHuman Mutation , 2021 February 10, {Pages }

    Abstract

    ATP8A2 is a P4‐ATPase that flips phosphatidylserine across membranes to generate and maintain transmembrane phospholipid asymmetry. Loss‐of‐function variants cause severe neurodegenerative and developmental disorders. We have identified three ATP8A2 variants in unrelated Iranian families that cause intellectual disability, dystonia, below‐average head circumference, mild optic atrophy, and developmental delay. Additionally, all the affected individuals displayed tooth abnormalities associated with defects in teeth development. Two variants (p.Asp825His and p.Met438Val) reside in critical functional domains of ATP8A2. These variants express at very low levels and lack ATPase activity. Inhibitor studies indicate that these variants a

    A novel metabolic disorder in the degradation pathway of endogenous methanol due to a mutation in the gene of alcohol dehydrogenase

    Maryam Razzaghy-Azar, Mitra Nourbakhsh, Mehdi Vafadar, Mona Nourbakhsh, Saeed Talebi, Ali Sharifi-Zarchi, Elham Salehi Siavashani, Masoud Garshasbi
    Journal PapersClinical Biochemistry , 2021 February 2, {Pages }

    Abstract

    BackgroundA small amount of methanol is produced endogenously in the human body but it is efficiently metabolized by alcohol dehydrogenase (ADH) and other enzymes, and the products eliminated without harm. In this study, we present a new entity of inborn error of methanol metabolism due to a mutation in the ADH1C gene coding for the γ subunit that is part of several ADH isoenzymes.ResultsThis disorder was discovered in an 11.58-year-old boy. During one 9-month hospital admission, he had periods of 1–4?days during which he was comatose, and between these periods he was sometimes verbose and euphoric, and had ataxia, dysarthria. Following hemodialysis treatments, he became conscious and appeared healthy. Organ evaluations and his laborator

    A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses

    Naser Gilani, Ehsan Razmara, Mehmet Ozaslan, Ihsan Kareem Abdulzahra, Saeid Arzhang, Ali Reza Tavasoli, Masoud Garshasbi
    Journal PapersActa Neurologica Belgica , 2021 March 30, {Pages 12-Jan }

    Abstract

    Mutations in CLN3 (OMIM: 607042) are associated with juvenile neuronal ceroid lipofuscinoses (JNCL)—a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration. The study aimed to determine the underlying genetic factors justifying the NCL phenotype in a large Iraqi consanguineous family. Four affected individuals with an initial diagnosis of NCL were recruited. By doing neuroimaging and also pertinent clinical examinations, eg fundus examination, due to heterogeneity of neurodevelopmental disorders, the proband was subjected to the paired-end whole-exome sequencing to identify underlying genetic factors. The candidate variant was also confirmed by Sanger sequencing. Various in silico predicti

    A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy

    Fardin Soleimanipour, Ehsan Razmara, Fatemeh Rahbarizadeh, Elnaz Fallahi, Mehrnoosh Khodaeian, Ali Reza Tavasoli, Masoud Garshasbi
    Journal PapersActa Neurologica Belgica , 2021 March 30, {Pages 09-Jan }

    Abstract

    Progressive myoclonus epilepsies (PMEs) are a group of disorders embracing myoclonus, seizures, and neurological dysfunctions. Because of the genetic and clinical heterogeneity, a large proportion of PMEs cases have remained molecularly undiagnosed. The present study aimed to determine the underlying genetic factors that contribute to the PME phenotype in an Iranian female patient. We describe a consanguineous Iranian family with autosomal recessive PME that had remained undiagnosed despite extensive genetic and pathological tests. After performing neuroimaging and clinical examinations, due to heterogeneity of PMEs, the proband was subjected to paired-end whole-exome sequencing and the candidate variant was confirmed by Sanger sequencing.

    Crystallographic Modeling of the PNPT1: c. 1453A> G Variant as a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical?…

    Ali Hosseini Bereshneh, Zahra Rezaei, Ehsan Jafarinia, Fatemeh Rajabi, Mahmoud Reza Ashrafi, Ali Reza Tavasoli, Masoud Garshasbi
    Journal PapersMitochondrion , 2021 April 1, {Pages }

    Abstract

    Deficiency of the proteins involved in oxidative phosphorylation (OXPHOS) can lead to mitochondrial dysfunction. Polyribonucleotide nucleotidyltransferase 1 (PNPT1) is one of the genes involved in the OXPHOS and encodes the mitochondrial polynucleotide phosphorylase (PNPase) which is implicated in RNA-processing exoribonuclease activity. Herein, we report a 34-month-old boy who presented with global developmental delay, muscular hypotonia, hearing impairment, and movement disorders including chorea and dystonia. Mitochondrial genome sequencing and whole-exome sequencing (WES) were performed and a variant in PNPT1:c.1453A>G; p. (Met485Val) was identified. A number of patient’s neurologic problems had been already reported in previous studi

    Novel Imaging and Clinical Manifestations of Ndmsba Disorder Caused by a Homozygous Missense Variant of Plaa

    Ali Dehghani, Ehsan Razmara, Maryam Rasoulinezhad, Fatemeh Bitarafan, Ali Reza Tavasoli, Masoud Garshasbi
    Journal Papers , 2021 April 13, {Pages }

    Abstract

    BackgroundPhospholipase A-2-activating protein (PLAP) has essential roles in biological pathways. Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) is a complex neurodevelopmental disease caused by defects in the PLAA gene (MIM: 603873). Herein, we aimed to detect the potential genetic factors contributing to the NDMSBA phenotype in a 2.5-year-old affected male in an Iranian consanguineous family.

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

    Raziyeh Khalesi, Ehsan Razmara, Golareh Asgaritarghi, Ali Reza Tavasoli, Yasser Riazalhosseini, Daniel Auld, Masoud Garshasbi
    Journal PapersBMC neurology , Volume 21 , Issue 1, 2021 December , {Pages 13-Jan }

    Abstract

    The present study aimed to determine the underlying genetic factors causing the possible Warburg micro syndrome (WARBM) phenotype in two Iranian patients. A 5-year-old female and a 4.5-year-old male were referred due to microcephaly, global developmental delay, and dysmorphic features. After doing neuroimaging and clinical examinations, due to the heterogeneity of neurodevelopmental disorders, we subjected 7 family members to whole-exome sequencing. Three candidate variants were confirmed by Sanger sequencing and allele frequency of each variant was also determined in 300 healthy ethnically matched people using the tetra-primer amplification refractory mutation system-PCR and PCR-restriction fragment length polymorphism. To show the splicin

    Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

    P Mohammadi, E Salehi Siavashani, MF Mohammadi, A Bahramy, ...
    Journal Papers , , {Pages }

    Abstract

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

    F Bitarafan, MR Hekmat, M Khodaeian, E Razmara, T Ashrafganjoei, ...
    Journal Papers , , {Pages }

    Abstract

    Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies In A Consanguineous Iranian Family Is Associated With A Novel Homozygous Start Loss …

    MA Gholizadeh, M Mohammadi-Sarband, F Fardanesh, M Garshasbi
    Journal Papers , , {Pages }

    Abstract

    Non Syndromic-Early Onset Epileptic Encephalopathies: Two novel KCTD7 pathogenic variants and a literature review

    S Binaafar, M Garshasbi, AR Tavasoli, RS Badv, SMM Hosseiny, ...
    Journal Papers , , {Pages }

    Abstract

    Defective complex III mitochondrial respiratory chain due to a novel variant in CYC1 gene masquerades acute demyelinating syndrome or Leber hereditary optic neuropathy

    E Heidari, M Rasoulinezhad, N Pak, MR Ashrafi, M Heidari, B Banwell, ...
    Journal Papers , , {Pages }

    Abstract

    Crystallographic modeling of the PNPT1: c. 1453A> G variant as a cause of mitochondrial dysfunction and autosomal recessive deafness; expanding the neuroimaging and clinical …

    AH Bereshneh, Z Rezaei, E Jafarinia, F Rajabi, MR Ashrafi, AR Tavasoli, ...
    Journal Papers , , {Pages }

    Abstract

    A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy

    P Mohammadi, M Heidari, MR Ashrafi, N Mahdieh, M Garshasbi
    Journal Papers , , {Pages }

    Abstract

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

    S Pirhadi, K Maghooli, NY Moteghaed, M Garshasbi, SJ Mousavirad
    Journal Papers , , {Pages }

    Abstract

    ACER3-Realted Leukoencephalopathy: Expanding The Clinical and Imaging Findings Spectrum Due to Novel Variants

    AZ Dehnavi, E Heidari, M Rasulinezhad, M Heidari, MR Ashrafi, ...
    Journal Papers , , {Pages }

    Abstract

    Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS

    Masoud Garshasbi, Mahdi Mahmoudi, Ehsan Razmara, Mahdi Vojdanian, Saeed Aslani, Elham Farhadi, Lars Riff Jensen, Seyed Masoud Arzaghi, Shiva Poursani, Amirreza Bitaraf, Milad Eidi, Elika Esmaeilzadeh Gharehdaghi, Andreas Walter Kuss, Ahmadreza Jamshidi
    Journal PapersEuropean Journal of Human Genetics , 2020 January 30, {Pages 09-Jan }

    Abstract

    Ankylosing spondylitis (AS) is a common complex inflammatory disease; however, up to now distinct genes with monogenic pattern have not been reported for this disease. In the present study, we report a large Iranian family with several affected members with AS. DNAs of the three affected and two healthy cases were chosen for performing whole-exome sequencing (WES). After several filtering steps, candidate variants in the following genes were detected: RELN, DNMT1, TAF4β, MUC16, DLG2, and FAM208. However, segregation analysis confirmed the association of only one variant, c. 7456A> G; p.(Ser2486Gly) in the RELN gene with AS in this family. In addition, in silico predictions supported the probable pathogenicity of this variant. In this study

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    دروس نیمسال جاری

    • دكتري
      نشانه شناسي بيماري ها ( واحد)
      دانشکده علوم پزشکی، گروه ژنتيك پزشكي
    • دكتري
      ژنتيك مولكولي پيشرفته ( واحد)
    • دكتري
      ژنتيك مولكولي پيشرفته ( واحد)
    • دكتري
      ژنوميكس كاربردي ( واحد)
    • دكتري
      ژنوميكس كاربردي ( واحد)
    • كارشناسي ارشد
      ژنتيك پزشكي ( واحد)
    • كارشناسي ارشد
      ژنتيك بيوشيميايي انسان ( واحد)
    • كارشناسي ارشد
      ژنتيك جمعيت و اپيدميولوژي ( واحد)
    • كارشناسي ارشد
      بيو انفورماتيك ( واحد)

    دروس نیمسال قبل

    • دكتري
      سامانه هاي نوين ( واحد)
      دانشکده علوم پزشکی، گروه علوم تشريح
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      ژنتيك سوماتيكي و سيتوپلاسمي ( واحد)
    • كارشناسي ارشد
      ژنتيك انساني ( واحد)
    • دكتري
      درمان ژنتيكي بيماري ها ( واحد)
    • دكتري
      كارورزي تخصصي بيمارستاني ( واحد)
    • 1399
      قلاوند, محمد امين
      بررسي ژنتيكي خانواده هاي ايراني مبتلا به نوروفيبروماتوز تيپ2 با استفاده از توالي يابي اگزوم
    • 1395
      محمديان احمداباد, سميه
      بررسي ژنتيكي خانواده هاي ايراني مبتلا به ديستروفي ارثي شبكيه با استفاده از توالي يابي اگزوم
    • 1398
      اقاقليزاده گنزق, مهدي
    • 1398
      ميراحمدي, مريم
    • دبیر انجمن ژنتیک
    • عضو هیات مدیره جامعه علمی آزمایشگاهیان ایران
    • عضو هیات تحریریه مجله تشخیص مولکولی
    • عضو هیات مدیره انجمن علمی ژنتیک پزشکی ایران
    • سردبیر فصلنامه Molecular and Biochemical Diagnosis
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