دکترمحمود شکاری خانیانی متخصص ژنتیک انسانی فارغ التحصیل از دانشگاه ملبورن کشور استرالیا می باشد.
ایشان دوره پزشکی عمومی را در دانشگاه علوم پزشکی عمومی را در دانشگاه علوم پزشکی تبریز تحصیل نموده و الان عضو هیئت علمی گروه ژنتیک پزشکی تبریز با درجه دانشیاری می باشد. ایشان دروس مرتبط با ژنتیک انسانی را در دوره های مختلف اعم از دوره پزشک عمومی – دندانپزشکی- دوره های تخصصی پزشکی و دندانپزشکی – فوق لیسانس و phd را تدریس می کند و تاکنون راهنمائی بیش از۲۰پایان نامه دانشجویی فوق لیسانس ودکتری را به عهده داشته است وبیش از ۳۰ مقاله انگلیسی در مجلات داخلی وخارجی چاپ نموده است.
Dr Mahmoud Shekari Khaniani, M.D, Ph.D in Human Genetics
Personal details:
Address of correspondence:
• Department of Medical Genetic
faculty of Medicine
Tabriz university of Medical Sciences
Golgasht Ave, Tabriz, I,R,Iran• Tel of organization : +98 413 3371587 —- +98 413 3375540
• Facsimaile Number: +98 413 3371587 —- +98 413 3375540
E-Mail : mahmoud.khaniani@gmail.com
۲۰۰۴ – ۲۰۰۷: Human Genetics, Doctorate (PhD)
Paediatric Department, Faculty of Medicine, Dentistry and Health Sciences, Cyto-Molecular Research Group, Murdoch Children research Institute, Royal children’s Hospital, University of Melbourne, Australia
Thesis Title: Molecular characterization and assessment of clinical significance of small Fragile X alleles
Supervisor: Professor Andy Choo and A/Pro Howard Slater1987-1994: Medical Doctor (M.D)
Faculty of Medicine, Tabriz University of Medical science, Tabriz, Iran
Clinical and work Experience:
• Associate Professor in Human Genetics at the Department of Medical Genetic, Tabriz university of Medical Science (2008 so far )
• Director of Ebna cina Medical Genetic Diagnostic Centre, Specialized and Sub specialized Outpatient Clinic of Tabriz University of Medical Sciences, No 507, Sheikh Alraeis , Azadi Ave, Tabriz, Tran
• Clinical Genetic Consoler in Specialized and Sub specialized Outpatient Clinic of Tabriz University of Medical Sciences ( 2008 so far )
• Working in hospitals as a General Practitioner
• working in health centres as a Family Physician
Research Experience:
• Association study of SLC6A4 gene and Autism patients in north west of Iran (2016- in progress)
• Association study of mutated FMR1 alleles and Autism patients in north west of Iran.(2010-2013)
• Detaection of Haemaophillia A carriers in Azarei Turkish Population of Iran. (2010-2013)
• Expression of cDNA human F8 gene from Recombinant DNA clone in hamster ovary cells (2010 – in progress )
• Production of Human Epidermal Growth Factor (EGF) from Recombinat DNA clone in Escherichia coli and Yeast (2010 – in progress )
• Production of Vascular Epidermal Growth Factor (VEGF) from Recombinat DNA clone in Escherichia coli and Yeast (2012 – in progress )
• Production of Human Stem Cell Factor (SCF) from Recombinat DNA clone in Escherichia coli and Yeast (2010- in progress )
• Extraction of Human CD34 + cells from Bone Marrow (2011- in progress )
• Molecular characterization and assessment of clinical significance of small Fragile X alleles (2004-2006)
• Investigation of tuberculosis of urinary duct system
Experimental Techniques:
Molecular and cell biology
• Routine bacterial cell culture technique (bacterial cultivation, preparation and transformation of competent cells)
• Routine DNA manipulation techniques (cloning, plasmid and bacterial artificial chromosome construction, transfection).
• DNA, RNA extraction from bacterial and mammalian cells and tissues
• Polymerase chain reaction, PCR, (amplification including long range and screening), sequencing, revers transcription and real-time PCR
• Manipulation of large BACs by purification, digestion and transfection)
• PFGE and agars gel electrophoresis (DNA)
Tissue Culture
• Culture of lymphocytes
• Culture of Amniotic fluid
• Routine cell culture and passage
• Freezing stocks of mammalian cells
• Thawing of frozen mammalian cells
• Primary culturing mammalian cells (fibroblast, kidney, brain, liver…)
• Maintenances of cell line cultures
• Counting cells and calculation of cell size using hemocytometer
• DNA transfection into human cells and produce stable cell line
• Microscopy (phase contrast, fluorescent and confocal)
• Media preparation
• Experience with tissue collection and biopsies (human and mouse)
• Flow cytometry
• Isolation of liver stem cells from mouse embryo
• Isolation of heamopotic stem cells from adult mouse
Communication
۱٫ Knowledge of English language, Reading, Writing, speaking and listening
۲٫ Preparation of scientific poster presentation and paper
۳٫ Presentations at laboratory meetings and journal clubs
۴٫ Familiarity with computer programs such as word, PowerPoint, Excel, experienced in database searches
Teaching experiences
• Medical Genetics for medical students
• Human Cryogenetics for Msc student
• Medical Genetics for Msc and Ph.D student
• Molecular Genetics for Msc and Ph.D student
• Genetic engineering for Msc and Ph.D student
• Advanced Molecular Genetics for Msc and Ph.D student
Presentation:
۵٫ Poster presentation in 4th Australasian Gene therapy Society Meeting, Melbourne, Australia (April, 2005
۶٫ Poster presentation in The 11th International Congress of Human Genetics, Brisbane, Australia (6th -10th August, 2006)
۷٫ Poster and oral presentation in 13th Australian Society of Cytogeneticists (ASoC) and 1th Molecular Genetics Society of Australasia (MGSA)Interim Scientific Meeting, (16th -18th March 2007, Sydney )
۸٫ Poster presentation in 11th International Conference in Human genetics,( 16th -19th June, Nice, France)
۹٫ Poster presentation in 13th International Workshop on Fragile X and X-linked Mental Retardation (3th -6th October 2007, Venezia Lido, Italy) : Pathology of the intermediate size (grey zone) FMR1 gene’s alleles-facts or fiction? Danuta Z Loesch, Mahmoud S khaniani, Trent Burgess, Richard Huggins, Howard R Slator
۱۰٫ Oral presentation in” infertility and laparoscopy congress” Tabriz university of medical science, September 2008
۱۱٫ Poster presentation in “ ۱۱th Iranian medical Genetics Congress “ May 2010 Tehran –Iran (An Improved diagnostic PCR assay for detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions )“
۱۲٫ Poster presentation in “ ۱۱th Iranian medical Genetics Congress “ May 2010- Tehran –Iran (Molecular Analysis of MEFV Gene in Iranian Patients with Familial Mediterranean Fever)
۱۳٫ Poster presentation for the 3rd International and 18th National Congress of Iranian Society for Reproductive Medicine Tabriz, Iran 18-20 April 2012 “An infertile man with a 45X karyotype (case report)”
۱۴٫ Poster presentation in European Human Genetics Conference Nürnberg, Germany June 23-26, 2012 “Controversy in the mode of inheritance in Familial Mediterranean fever diseases; Molecular Analysis of MEFV Gene in Patients”
۱۵٫ Poster presentation in European Human Genetics Conference Nürnberg, Germany June 23-26, 2012 “Sodium butyrate and Valproic acid as a splicing restoring agents in erythroid cells of β-thalassaemic patients”
Publication:
۱٫ Mahmoud, S Khaniani , Paul Kalitsis, Trent Burgess, Howard R Slater An Improved Diagnostic PCR Assay for Identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1). Journal of Molecular Cytogenetics 2008; 1:5 Page 1-6
۲٫ Ruimei Hu, Nicole E. Buck, Mahmoud S. Khaniani, Leonie Wood, Hady Wardan, Jean-Francois Benoist, Lingli Li, Jim Vadolas, Joseph P. Sarsero, Panos A. Ioannou, Heidi L. Peters (Three first investigators contributed equally and should be considered as first authors); “Gene induction for the treatment of Methylmalonic acidouria “ The journal of gene Medicine , 2009, Volume 11, Issue 4, Page 361-369
۳٫ Mahmoud, S Khaniani , P. Kalitsis, D.Z. Loesch, R J. Michell, A. Choo, H. R Slater Determination of Heterozygosity at the FMR1 gene by An Enhanced Polymerase Reaction Assay; European Journal of Human Genetics, 2007, Volume 15 supplement 1 ,June page109
۴٫ DZ Loescha, MS Khaniani , HR Slaterd,e, JP Rubiof, QM Buig, K Kotscheth and at all Small CGG repeat expansion alleles of FMR1 gene are associated with Parkinsonism Clinical Genetics 2009: 76: 471–۴۷۶
۵٫ Danuta Z. Loesch, David E. Godler, Mahmoud Khaniani, Emma Gould and at all “Linking the FMR1 Alleles With Small CGG Expansions With Neurodevelopmental Disorders: Preliminary Data Suggest an Involvement of Epigenetic Mechanisms” American Journal of Medical Genetics ( Part A), 2009;10:2306-2310
۶٫ A.G. Behbahan, B. Poorshiri, F. Mortazavi, M.S. Khaniani and S.M. Derakhshan
“NPHS1 Gene Mutations in Children with Nephrotic Syndrome in Northwest Iran” Pakistan Journal of Biological Sciences 16 (17): 882-886, 2013
۷٫ Ebrahimi Ammar, khaniani S Mahmoud, Mansoori Sima ”Stable expression of modified Gene encoding functional Human coagulation Factor VIII”
Journal for Drugs and medicines, 2011,Vol 3 (2), pp. 19-25
۸٫ Negar Saliani, Masoud Darabi, Bahman Yousefi, Behzad Baradaran, Mahmoud Shekari Khaniani, Maryam Darabi, Maghsod Shaaker, Amir Mehdizadeh, Tahereh Naji and Mehrdad Hashemi. “PPARγ agonist-induced alterations in Δ۶-desaturase and stearoyl-CoA desaturase 1: Role of MEK/ERK1/2 pathway”
World Journal of Hepatology, 2013, 5(4): 220-225.
۹٫ Bahman Yousefi, Masoud Darabi, Behzad Baradaran, Mahmoud Shekari Khaniani, Mohammad Rahbani, Maryam Darabi, Shabnam Fayezi, Amir Mehdizadeh, Negar Saliani, Maghsod Shaaker “Inhibition of MEK/ERK1/2 Signaling Affects the Fatty Acid Composition of HepG2 Human Hepatic Cell Line” Bioimpacts, 2012, 2(3), 145-150
۱۰٫ ـJamal Mohmmadian. Sima Mansoori Derakhshan , Masood Mohmmadian, Mahmoud Shekari Khaniani* “Construction of Yeast Recombinant Expression Vector Containing Human Epidermal Growth Factor (hEGF)”
Advanced Pharmaceutical Bulletin: 2013; 3(2), 473-476
۱۱٫ Behrooz Farhadi, Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan “Construction of pPIC9 Recombinant Vector Containing Human Stem Cell Factor” Advanced Pharmaceutical Bulletin: 2013;3(2), 303-308
۱۲٫ : Azizeh Farshbaf khalili, Mahnaz Shahnazi, Khadijeh bHajizadeh, Mahmoud Shekari Khaniani “Down Syndrome Screening Methods In Iraniani Pregnant Women” Journal of caing Scinces ,2012,(13),145-151
۱۳٫ Salman Asghari, Mahmoud Shekari Khaniani , Masood Darabei, Sima Mansoori Derakhshan “Cloning of Soluble Human Stem Cell Factor in pET-26b(+) vector”
Advanced Pharmaceutical Bulletin, 2014, 4(1), 91-95
۱۴٫ Sima Mansoori Derakhshan, Shamsei Abbasalizadeh, Fatemeh Abbasalizadeh, Mahmoud Shekari Khaniani * “Pernatal Diagnosis of Spinal Muscular Atrophy: Clinical experience and Moleculargenetics of SMN gene analysis in 36 cases”
Journal of Prenatal Medicine, 2013 Vol: 7 (3); 32-34
۱۵٫ Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan “Molecular Characterisation and Assessment of Clinical Significance of Small Fragile X Alleles” Journal of Analytical Research in Clinical Medicine (Vol. 1, No. 1 Page 1-17)
۱۶٫ Afkhamei F, Shekari Khaniani .M, Farzadei, Paknejade, Mansoori Derakhshan. S “The HLA- G 14bp insertion/delation polymorphisim in women with recurrent spontaneous abortion” Iranian Journal of Allergy, Asthma and Immunology. 2014; 13 (5): 364-369
۱۷٫ Tamouchin Moharrami, Sima Mansoori Derakhshan, Abbas Ali H. Pourfeizi. Mahmoud Shekari Khaniani ” Detaection of Haemaophillia A carriers in Azarei Turkish Population of Iran Clinical and Applied Thrombosis /hemostasis 2014
۱۸٫ Nahid Karimian fathiو Mahmoud Shekari khaniani, Vahid Motazeri , Sima Mansoori Derakhshan “Minor role of BRCA2 mutation (Exone 2 and Exone 11) in patients with early- onset breast cancer amongst Iranian Azari-Turkish women “ Iranian Journal of Basic Medical Sciences, 2014 , Vol. 17 ,No 2
۱۹٫ Samira Goldar, Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan, Behzad Baradran ” Molecular mechanisms Apoptosis and Role in cancer development and treatment” Asian Pacific Journal of Cancer Prevention: APJCP 2015, 16 (6): 2129-44
Index: ISI, PubMed Central, PubMed, Embase, Scopus, ………. IF: Impact factor: 2.514
۲۰٫ Mahmoud Shekari Khaniani, Nasrin Sohrapi, Neda Mansoori Derakhshan. Sima Mansoori Derakhshan ” One novel frameshift mutation on exon 64 of COL7A1 gene in an Iranian individual suffering recessive Dystrophic epidermolysis Bullosa” Annals of Clinical and Laboratory Sciences Vol , 45 , no, 5 , 2015
Index: ISI -pubmed, Scopus…….. Impact factor :1
۲۱٫ Nasrin Sohrabi, Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan” Evaluation of Association Between HLA Class II DR4–DQ8 Haplotype and Type I Diabetes Mellitus in Children of East Azerbaijan State of Iran” Adv Pharm Bull, 2015, Volume 17, Issue 2, February 2015, Page 108-111
Index: ISI, PubMed Central, PubMed, Embase, Scopus, IF: 0.875
۲۲٫ Mahmoud Shekari Khaniani, Mahdieh Taghizadeh, Abbasali Hosseinpour Feizi, Sima Mansoori Derakhshan” Sodium Butyrate and Valproic Acid as Splicing Restoring Agents in Erythroid Cells of b-Thalassemic Patients” Iranian Journal of Biotechnology , Volume 14, Issue 1, Winter 2016, Page 9-15
Index: ISI, PubMed Central, PubMed, Embase, Scopus, IF: 0.8
۲۳٫ Sima Mansoori Derakhshan1 , Aziz Khorrami2, Abbasali Hosseinpour Pour Feizi and Mahmoud Shekari Khaniani “Spectrum of β-Globin Gene Mutations and β-Thalassemia Haplotype Analysis among the Iranian Azeri Turkish Population “ Epidemiology , 2015, Vol 5. Isuue 4
Index: ISI, PubMed Central, PubMed, Embase, Scopus, IF: 0.875
۲۴٫ Sima Mansoori Derakhshan , Fatemeh Zeinali Sehrig, Nasrin Sohrabi, Siamak Shiva,4 Behzad Baradaran, and Mahmoud Shekari Khaniani ” The Association between Human Leukocyte Antigen Class II DR3–DQ2 Haplotype and Type 1 Diabetes in Children of the East Azerbaijan State of Iran” Iran Red Crescent Med J. 2015 Sep; 17(9)
Index: ISI, PubMed Central, PubMed, Embase, Scopus, IF: 0.875
۲۵٫ Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan “Cytogenetic finding in patients with intellectual disability and/or multiple congenital anomalies” Journal of Analytical Research in Clinical Medicine (2016 ,Vol. 4, No. 2 Page 97-103)
۲۶٫ Mahmoud Shekari Khaniani , Abdollah Ebrahimi, , Setareh Daraei, , Sima Mansoori Derakhshan ” Genotyping of Intron Inversions and Point Mutations in Exon 14 of the FVIII Gene in Iranian Azeri Turkish Families with Hemophilia A” Indian Journal of Hematology and Blood Transfusion, 2016
Membership:
• Australasian Gene Therapy Society
• Human Genetics Society of Australia
• Human Genetics Society of Iran