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Items: 50


Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.

Mahjoub G, Habibzadeh P, Dastsooz H, Mirzaei M, Kavosi A, Jamali L, Javanmardi H, Katibeh P, Faghihi MA, Dastgheib SA.

BMC Med Genet. 2019 Oct 29;20(1):167. doi: 10.1186/s12881-019-0893-9.


A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.

Habibzadeh P, Inaloo S, Silawi M, Dastsooz H, Farazi Fard MA, Sadeghipour F, Faghihi Z, Rezaeian M, Yavarian M, Böhm J, Faghihi MA.

Front Neurol. 2019 Sep 4;10:944. doi: 10.3389/fneur.2019.00944. eCollection 2019.


Association between rs2303861 polymorphism in CD82 gene and non-alcoholic fatty liver disease: a preliminary case-control study.

Habibzadeh P, Honarvar B, Silawi M, Bahramjahan S, Kazemi A, Faghihi MA, Lankarani K.

Croat Med J. 2019 Aug 31;60(4):361-368.


A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report.

Zareifar S, Dastsooz H, Shahriari M, Faghihi MA, Shekarkhar G, Bordbar M, Zekavat OR, Shakibazad N.

BMC Med Genet. 2019 Jul 9;20(1):122. doi: 10.1186/s12881-019-0855-2.


Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. No abstract available.


Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Erratum in: Am J Hum Genet. 2019 Jun 6;104(6):1251.


An immunocompetent patient with a nonsense mutation in NHEJ1 gene.

Esmaeilzadeh H, Bordbar MR, Hojaji Z, Habibzadeh P, Afshinfar D, Miryounesi M, Fardaei M, Faghihi MA.

BMC Med Genet. 2019 Mar 21;20(1):45. doi: 10.1186/s12881-019-0784-0.


HDAC Inhibitors Induce BDNF Expression and Promote Neurite Outgrowth in Human Neural Progenitor Cells-Derived Neurons.

Bagheri A, Habibzadeh P, Razavipour SF, Volmar CH, Chee NT, Brothers SP, Wahlestedt C, Mowla SJ, Faghihi MA.

Int J Mol Sci. 2019 Mar 5;20(5). pii: E1109. doi: 10.3390/ijms20051109.


The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report.

Saberzadeh J, Miri MR, Dianatpour M, Behzad Behbahani A, Tabei MB, Alipour M, Faghihi MA, Fardaei M.

Iran J Med Sci. 2019 Jan;44(1):65-69.


A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.

Ziyaee F, Shorafa E, Dastsooz H, Habibzadeh P, Nemati H, Saeed A, Silawi M, Farazi Fard MA, Faghihi MA, Dastgheib SA.

BMC Med Genet. 2019 Jan 14;20(1):13. doi: 10.1186/s12881-018-0743-1.


A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report.

Esmaeilzadeh H, Bordbar MR, Dastsooz H, Silawi M, Fard MAF, Adib A, Kafashan A, Tabatabaei Z, Sadeghipour F, Faghihi MA.

BMC Med Genet. 2018 Jul 20;19(1):123. doi: 10.1186/s12881-018-0647-0.


Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.

Maghami F, Tabei SMB, Moravej H, Dastsooz H, Modarresi F, Silawi M, Faghihi MA.

BMC Med Genet. 2018 May 25;19(1):86. doi: 10.1186/s12881-018-0579-8.


Cocaine alters Homer1 natural antisense transcript in the nucleus accumbens.

Sartor GC, Powell SK, Velmeshev D, Lin DY, Magistri M, Wiedner HJ, Malvezzi AM, Andrade NS, Faghihi MA, Wahlestedt C.

Mol Cell Neurosci. 2017 Dec;85:183-189. doi: 10.1016/j.mcn.2017.10.003. Epub 2017 Oct 18.


A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome.

Taghdiri M, Dastsooz H, Fardaei M, Mohammadi S, Farazi Fard MA, Faghihi MA.

Front Pediatr. 2017 Aug 9;5:169. doi: 10.3389/fped.2017.00169. eCollection 2017.


Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

Dastsooz H, Nemati H, Fard MAF, Fardaei M, Faghihi MA.

BMC Med Genet. 2017 Aug 18;18(1):87. doi: 10.1186/s12881-017-0439-y.


Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

Karimzadeh P, Naderi S, Modarresi F, Dastsooz H, Nemati H, Farokhashtiani T, Shamsian BS, Inaloo S, Faghihi MA.

BMC Med Genet. 2017 Jul 17;18(1):73. doi: 10.1186/s12881-017-0417-4.


A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.

Bordbar MR, Modarresi F, Farazi Fard MA, Dastsooz H, Shakib Azad N, Faghihi MA.

BMC Med Genet. 2017 May 3;18(1):49. doi: 10.1186/s12881-017-0404-9.


Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice.

Pardo M, Cheng Y, Velmeshev D, Magistri M, Eldar-Finkelman H, Martinez A, Faghihi MA, Jope RS, Beurel E.

JCI Insight. 2017 Mar 23;2(6):e91782. doi: 10.1172/jci.insight.91782.


Ketamine up-regulates a cluster of intronic miRNAs within the serotonin receptor 2C gene by inhibiting glycogen synthase kinase-3.

Grieco SF, Velmeshev D, Magistri M, Eldar-Finkelman H, Faghihi MA, Jope RS, Beurel E.

World J Biol Psychiatry. 2017 Sep;18(6):445-456. doi: 10.1080/15622975.2016.1224927. Epub 2016 Oct 10.


A comparative transcriptomic analysis of astrocytes differentiation from human neural progenitor cells.

Magistri M, Khoury N, Mazza EM, Velmeshev D, Lee JK, Bicciato S, Tsoulfas P, Faghihi MA.

Eur J Neurosci. 2016 Nov;44(10):2858-2870. doi: 10.1111/ejn.13382. Epub 2016 Sep 25.


Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome.

Hsiao J, Yuan TY, Tsai MS, Lu CY, Lin YC, Lee ML, Lin SW, Chang FC, Liu Pimentel H, Olive C, Coito C, Shen G, Young M, Thorne T, Lawrence M, Magistri M, Faghihi MA, Khorkova O, Wahlestedt C.

EBioMedicine. 2016 Jul;9:257-277. doi: 10.1016/j.ebiom.2016.05.011. Epub 2016 May 13.


The BET-Bromodomain Inhibitor JQ1 Reduces Inflammation and Tau Phosphorylation at Ser396 in the Brain of the 3xTg Model of Alzheimer's Disease.

Magistri M, Velmeshev D, Makhmutova M, Patel P, Sartor GC, Volmar CH, Wahlestedt C, Faghihi MA.

Curr Alzheimer Res. 2016;13(9):985-95.


Editorial: Molecular Function and Regulation of Non-coding RNAs in Multifactorial Diseases.

Hajjari M, Mowla SJ, Faghihi MA.

Front Genet. 2016 Feb 19;7:9. doi: 10.3389/fgene.2016.00009. eCollection 2016. No abstract available.


Transcriptomic Profiling of Extracellular RNAs Present in Cerebrospinal Fluid Identifies Differentially Expressed Transcripts in Parkinson's Disease.

Hossein-Nezhad A, Fatemi RP, Ahmad R, Peskind ER, Zabetian CP, Hu SC, Shi M, Wahlestedt C, Zhang J, Faghihi MA.

J Parkinsons Dis. 2016;6(1):109-17. doi: 10.3233/JPD-150737.


CANEapp: a user-friendly application for automated next generation transcriptomic data analysis.

Velmeshev D, Lally P, Magistri M, Faghihi MA.

BMC Genomics. 2016 Jan 13;17:49. doi: 10.1186/s12864-015-2346-y.


Associating schizophrenia, long non-coding RNAs and neurostructural dynamics.

Merelo V, Durand D, Lescallette AR, Vrana KE, Hong LE, Faghihi MA, Bellon A.

Front Mol Neurosci. 2015 Sep 30;8:57. doi: 10.3389/fnmol.2015.00057. eCollection 2015. Review.


Screening for Small-Molecule Modulators of Long Noncoding RNA-Protein Interactions Using AlphaScreen.

Pedram Fatemi R, Salah-Uddin S, Modarresi F, Khoury N, Wahlestedt C, Faghihi MA.

J Biomol Screen. 2015 Oct;20(9):1132-41. doi: 10.1177/1087057115594187. Epub 2015 Jul 14.


Extracellular Uridine Triphosphate and Adenosine Triphosphate Attenuate Endothelial Inflammation through miR-22-Mediated ICAM-1 Inhibition.

Gidlöf O, Sathanoori R, Magistri M, Faghihi MA, Wahlestedt C, Olde B, Erlinge D.

J Vasc Res. 2015;52(2):71-80. doi: 10.1159/000431367. Epub 2015 Jun 13.


Antisense RNA controls LRP1 Sense transcript expression through interaction with a chromatin-associated protein, HMGB2.

Yamanaka Y, Faghihi MA, Magistri M, Alvarez-Garcia O, Lotz M, Wahlestedt C.

Cell Rep. 2015 May 12;11(6):967-976. doi: 10.1016/j.celrep.2015.04.011. Epub 2015 Apr 30.


De-repressing LncRNA-Targeted Genes to Upregulate Gene Expression: Focus on Small Molecule Therapeutics.

Fatemi RP, Velmeshev D, Faghihi MA.

Mol Ther Nucleic Acids. 2014 Nov 18;3:e196. doi: 10.1038/mtna.2014.45. Review.


HuD regulates coding and noncoding RNA to induce APP→Aβ processing.

Kang MJ, Abdelmohsen K, Hutchison ER, Mitchell SJ, Grammatikakis I, Guo R, Noh JH, Martindale JL, Yang X, Lee EK, Faghihi MA, Wahlestedt C, Troncoso JC, Pletnikova O, Perrone-Bizzozero N, Resnick SM, de Cabo R, Mattson MP, Gorospe M.

Cell Rep. 2014 Jun 12;7(5):1401-1409. doi: 10.1016/j.celrep.2014.04.050. Epub 2014 May 22.


Regulation of the apolipoprotein gene cluster by a long noncoding RNA.

Halley P, Kadakkuzha BM, Faghihi MA, Magistri M, Zeier Z, Khorkova O, Coito C, Hsiao J, Lawrence M, Wahlestedt C.

Cell Rep. 2014 Jan 16;6(1):222-30. doi: 10.1016/j.celrep.2013.12.015. Epub 2014 Jan 2.


Expression of non-protein-coding antisense RNAs in genomic regions related to autism spectrum disorders.

Velmeshev D, Magistri M, Faghihi MA.

Mol Autism. 2013 Sep 4;4(1):32. doi: 10.1186/2040-2392-4-32.


Regulation of chromatin structure by long noncoding RNAs: focus on natural antisense transcripts.

Magistri M, Faghihi MA, St Laurent G 3rd, Wahlestedt C.

Trends Genet. 2012 Aug;28(8):389-96. doi: 10.1016/j.tig.2012.03.013. Epub 2012 Apr 26. Review.


Inhibition of natural antisense transcripts in vivo results in gene-specific transcriptional upregulation.

Modarresi F, Faghihi MA, Lopez-Toledano MA, Fatemi RP, Magistri M, Brothers SP, van der Brug MP, Wahlestedt C.

Nat Biotechnol. 2012 Mar 25;30(5):453-9. doi: 10.1038/nbt.2158.


Knockdown of BACE1-AS Nonprotein-Coding Transcript Modulates Beta-Amyloid-Related Hippocampal Neurogenesis.

Modarresi F, Faghihi MA, Patel NS, Sahagan BG, Wahlestedt C, Lopez-Toledano MA.

Int J Alzheimers Dis. 2011;2011:929042. doi: 10.4061/2011/929042. Epub 2011 Jul 9.


RNAi screen indicates widespread biological function for human natural antisense transcripts.

Faghihi MA, Kocerha J, Modarresi F, Engström PG, Chalk AM, Brothers SP, Koesema E, St Laurent G, Wahlestedt C.

PLoS One. 2010 Oct 4;5(10). pii: e13177. doi: 10.1371/journal.pone.0013177.


Evidence for natural antisense transcript-mediated inhibition of microRNA function.

Faghihi MA, Zhang M, Huang J, Modarresi F, Van der Brug MP, Nalls MA, Cookson MR, St-Laurent G 3rd, Wahlestedt C.

Genome Biol. 2010;11(5):R56. doi: 10.1186/gb-2010-11-5-r56. Epub 2010 May 27.


Non-coding RNA transcripts: sensors of neuronal stress, modulators of synaptic plasticity, and agents of change in the onset of Alzheimer's disease.

St Laurent G 3rd, Faghihi MA, Wahlestedt C.

Neurosci Lett. 2009 Dec 4;466(2):81-8. doi: 10.1016/j.neulet.2009.08.032. Epub 2009 Aug 20. Review.


Regulatory roles of natural antisense transcripts.

Faghihi MA, Wahlestedt C.

Nat Rev Mol Cell Biol. 2009 Sep;10(9):637-43. doi: 10.1038/nrm2738. Epub 2009 Jul 29. Review.


MicroRNA-219 modulates NMDA receptor-mediated neurobehavioral dysfunction.

Kocerha J, Faghihi MA, Lopez-Toledano MA, Huang J, Ramsey AJ, Caron MG, Sales N, Willoughby D, Elmen J, Hansen HF, Orum H, Kauppinen S, Kenny PJ, Wahlestedt C.

Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3507-12. doi: 10.1073/pnas.0805854106. Epub 2009 Feb 5.


A small molecule enhances RNA interference and promotes microRNA processing.

Shan G, Li Y, Zhang J, Li W, Szulwach KE, Duan R, Faghihi MA, Khalil AM, Lu L, Paroo Z, Chan AW, Shi Z, Liu Q, Wahlestedt C, He C, Jin P.

Nat Biotechnol. 2008 Aug;26(8):933-40. doi: 10.1038/nbt.1481. Epub 2008 Jul 20.


Expression of a noncoding RNA is elevated in Alzheimer's disease and drives rapid feed-forward regulation of beta-secretase.

Faghihi MA, Modarresi F, Khalil AM, Wood DE, Sahagan BG, Morgan TE, Finch CE, St Laurent G 3rd, Kenny PJ, Wahlestedt C.

Nat Med. 2008 Jul;14(7):723-30. doi: 10.1038/nm1784. Epub 2008 Jun 29.


A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome.

Khalil AM, Faghihi MA, Modarresi F, Brothers SP, Wahlestedt C.

PLoS One. 2008 Jan 23;3(1):e1486. doi: 10.1371/journal.pone.0001486.


The human PINK1 locus is regulated in vivo by a non-coding natural antisense RNA during modulation of mitochondrial function.

Scheele C, Petrovic N, Faghihi MA, Lassmann T, Fredriksson K, Rooyackers O, Wahlestedt C, Good L, Timmons JA.

BMC Genomics. 2007 Mar 15;8:74.


Antisense transcription in the mammalian transcriptome.

Katayama S, Tomaru Y, Kasukawa T, Waki K, Nakanishi M, Nakamura M, Nishida H, Yap CC, Suzuki M, Kawai J, Suzuki H, Carninci P, Hayashizaki Y, Wells C, Frith M, Ravasi T, Pang KC, Hallinan J, Mattick J, Hume DA, Lipovich L, Batalov S, Engström PG, Mizuno Y, Faghihi MA, Sandelin A, Chalk AM, Mottagui-Tabar S, Liang Z, Lenhard B, Wahlestedt C; RIKEN Genome Exploration Research Group; Genome Science Group (Genome Network Project Core Group); FANTOM Consortium.

Science. 2005 Sep 2;309(5740):1564-6.


Identification of functional SNPs in the 5-prime flanking sequences of human genes.

Mottagui-Tabar S, Faghihi MA, Mizuno Y, Engström PG, Lenhard B, Wasserman WW, Wahlestedt C.

BMC Genomics. 2005 Feb 17;6:18.


Genetics of neurological disorders.

Faghihi MA, Mottagui-Tabar S, Wahlestedt C.

Expert Rev Mol Diagn. 2004 May;4(3):317-32. Review.


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