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Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
Biggs CM, Cordeiro-Santanach A, Prykhozhij SV, Deveau AP, Lin Y, Del Bel KL, Orben F, Ragotte RJ, Saferali A, Mostafavi S, Dinh L, Dai D, Weinacht KG, Dobbs K, Ott de Bruin L, Sharma M, Tsai K, Priatel JJ, Schreiber RA, Rozmus J, Hosking MC, Shopsowitz KE, McKinnon ML, Vercauteren S, Seear M, Notarangelo LD, Lynn FC, Berman JN, Turvey SE. Biggs CM, et al. Among authors: mostafavi s. JCI Insight. 2022 Dec 22;7(24):e150849. doi: 10.1172/jci.insight.150849. JCI Insight. 2022. PMID: 36546480 Free PMC article.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Turvey SE, Lehman A. Mohajeri A, et al. Among authors: mostafavi s. J Med Genet. 2023 Nov;60(11):1092-1104. doi: 10.1136/jmg-2022-109127. Epub 2023 Jun 14. J Med Genet. 2023. PMID: 37316189
Genetic variation and pesticide exposure influence blood DNA methylation signatures in females with early-stage Parkinson's disease.
Schaffner SL, Casazza W, Artaud F, Konwar C, Merrill SM, Domenighetti C, Schulze-Hentrich JM, Lesage S, Brice A, Corvol JC, Mostafavi S, Dennis JK, Elbaz A, Kobor MS; DIGPD Study Group. Schaffner SL, et al. Among authors: mostafavi s. NPJ Parkinsons Dis. 2024 May 7;10(1):98. doi: 10.1038/s41531-024-00704-3. NPJ Parkinsons Dis. 2024. PMID: 38714693 Free PMC article.
The Effectiveness of Transcranial Direct Current Stimulation (tDCS) and Omega-3 on Food Craving, Executive Functions, Weight, and Depressive Symptoms in Patients with Depression and Overweight: A Randomized Controlled Trial.
Tabasi M, Mostafavi SA, Oreyzi H, Mohammadi MR, Khaleghi A. Tabasi M, et al. Among authors: mostafavi sa. Iran J Psychiatry. 2024 Feb;19(2):158-173. doi: 10.18502/ijps.v19i2.15102. Iran J Psychiatry. 2024. PMID: 38686306 Free PMC article.
Mitochondrial complex I deficiency stratifies idiopathic Parkinson's disease.
Flønes IH, Toker L, Sandnes DA, Castelli M, Mostafavi S, Lura N, Shadad O, Fernandez-Vizarra E, Painous C, Pérez-Soriano A, Compta Y, Molina-Porcel L, Alves G, Tysnes OB, Dölle C, Nido GS, Tzoulis C. Flønes IH, et al. Among authors: mostafavi s. Nat Commun. 2024 Apr 29;15(1):3631. doi: 10.1038/s41467-024-47867-4. Nat Commun. 2024. PMID: 38684731 Free PMC article.
333 results