Mohammad Ali Faghihi

Publications

• A Novel Stop-gain Mutation in DPYS Gene Causing Dihidropyrimidinase Deficiency, a Case Report
  BMC Medical Genetics. Jun, 2020   |   Pubmed ID: 32600357
• Reporting One Very Rare Pathogenic Variation C.1106G>A in Gene
  Intractable & Rare Diseases Research. May, 2020   |   Pubmed ID: 32494558
• Viral Metagenomic Analysis of Fecal Samples Reveals an Enteric Virome Signature in Irritable Bowel Syndrome
  BMC Microbiology. May, 2020   |   Pubmed ID: 32429898
• Clinical and Molecular Characterization of a Patient with Mitochondrial Neurogastrointestinal Encephalomyopathy
  BMC Gastroenterology. May, 2020   |   Pubmed ID: 32384880
• AICAR and Nicotinamide Treatment Synergistically Augment the Proliferation and Attenuate Senescence-associated Changes in Mesenchymal Stromal Cells
  Stem Cell Research & Therapy. 02, 2020   |   Pubmed ID: 32014016
• Cell-Type-Specific Analysis of Molecular Pathology in Autism Identifies Common Genes and Pathways Affected Across Neocortical Regions
  Molecular Neurobiology. May, 2020   |   Pubmed ID: 32008165
• Clinical and Molecular Characterization of Three Patients with Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome: a Case Series
  BMC Medical Genetics. 10, 2019   |   Pubmed ID: 31664948
• A Novel Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment
  Frontiers in Neurology. Month, 2019   |   Pubmed ID: 31551910
• Association Between Rs2303861 Polymorphism in CD82 Gene and Non-alcoholic Fatty Liver Disease: a Preliminary Case-control Study
  Croatian Medical Journal. Aug, 2019   |   Pubmed ID: 31483122
• A Novel Frame-shift Deletion in FANCF Gene Causing Autosomal Recessive Fanconi Anemia: a Case Report
  BMC Medical Genetics. 07, 2019   |   Pubmed ID: 31288759
• Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
  American Journal of Human Genetics. 04, 2019   |   Pubmed ID: 30929741
• An Immunocompetent Patient with a Nonsense Mutation in NHEJ1 Gene
  BMC Medical Genetics. 03, 2019   |   Pubmed ID: 30898087
• HDAC Inhibitors Induce Expression and Promote Neurite Outgrowth in Human Neural Progenitor Cells-Derived Neurons
  International Journal of Molecular Sciences. Mar, 2019   |   Pubmed ID: 30841499
• The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report
  Iranian Journal of Medical Sciences. Jan, 2019   |   Pubmed ID: 30666078
• A Novel Mutation in SEPN1 Causing Rigid Spine Muscular Dystrophy 1: a Case Report
  BMC Medical Genetics. 01, 2019   |   Pubmed ID: 30642275
• A Novel Splice Site Mutation in WAS Gene in Patient with Wiskott-Aldrich Syndrome and Chronic Colitis: a Case Report
  BMC Medical Genetics. 07, 2018   |   Pubmed ID: 30029636
• Splicing Defect in FKBP10 Gene Causes Autosomal Recessive Osteogenesis Imperfecta Disease: a Case Report
  BMC Medical Genetics. 05, 2018   |   Pubmed ID: 29801479
• Novel Mutations in PANK2 and PLA2G6 Genes in Patients with Neurodegenerative Disorders: Two Case Reports
  BMC Medical Genetics. 08, 2017   |   Pubmed ID: 28821231
• Case Reports of Juvenile GM1 Gangliosidosisis Type II Caused by Mutation in GLB1 Gene
  BMC Medical Genetics. 07, 2017   |   Pubmed ID: 28716012
• A Case Report of Novel Mutation in PRF1 Gene, Which Causes Familial Autosomal Recessive Hemophagocytic Lymphohistiocytosis
  BMC Medical Genetics. 05, 2017   |   Pubmed ID: 28468610
• A Comparative Transcriptomic Analysis of Astrocytes Differentiation from Human Neural Progenitor Cells
  The European Journal of Neuroscience. 11, 2016   |   Pubmed ID: 27564458
• The BET-Bromodomain Inhibitor JQ1 Reduces Inflammation and Tau Phosphorylation at Ser396 in the Brain of the 3xTg Model of Alzheimer's Disease
  Current Alzheimer Research. Month, 2016   |   Pubmed ID: 27117003
• Editorial: Molecular Function and Regulation of Non-coding RNAs in Multifactorial Diseases
  Frontiers in Genetics. Month, 2016   |   Pubmed ID: 26925093
• Transcriptomic Profiling of Extracellular RNAs Present in Cerebrospinal Fluid Identifies Differentially Expressed Transcripts in Parkinson's Disease
  Journal of Parkinson's Disease. Month, 2016   |   Pubmed ID: 26889637
• CANEapp: a User-friendly Application for Automated Next Generation Transcriptomic Data Analysis
  BMC Genomics. Jan, 2016   |   Pubmed ID: 26758513
• Transcriptomics Profiling of Alzheimer's Disease Reveal Neurovascular Defects, Altered Amyloid-β Homeostasis, and Deregulated Expression of Long Noncoding RNAs
  Journal of Alzheimer's Disease : JAD. Month, 2015   |   Pubmed ID: 26402107
• Screening for Small-Molecule Modulators of Long Noncoding RNA-Protein Interactions Using AlphaScreen
  Journal of Biomolecular Screening. Oct, 2015   |   Pubmed ID: 26173710
• Antisense RNA Controls LRP1 Sense Transcript Expression Through Interaction with a Chromatin-associated Protein, HMGB2
  Cell Reports. May, 2015   |   Pubmed ID: 25937287
• De-repressing LncRNA-Targeted Genes to Upregulate Gene Expression: Focus on Small Molecule Therapeutics
  Molecular Therapy. Nucleic Acids. Nov, 2014   |   Pubmed ID: 25405465
• Regulation of the Apolipoprotein Gene Cluster by a Long Noncoding RNA
  Cell Reports. Dec, 2013   |   Pubmed ID: 24388749
• Expression of Non-protein-coding Antisense RNAs in Genomic Regions Related to Autism Spectrum Disorders
  Molecular Autism. Sep, 2013   |   Pubmed ID: 24007600
• Regulation of Chromatin Structure by Long Noncoding RNAs: Focus on Natural Antisense Transcripts
  Trends in Genetics : TIG. Aug, 2012   |   Pubmed ID: 22541732
• Inhibition of Natural Antisense Transcripts in Vivo Results in Gene-specific Transcriptional Upregulation
  Nature Biotechnology. Mar, 2012   |   Pubmed ID: 22446693
• Knockdown of BACE1-AS Nonprotein-Coding Transcript Modulates Beta-Amyloid-Related Hippocampal Neurogenesis
  International Journal of Alzheimer's Disease. Month, 2011   |   Pubmed ID: 21785702