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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Serey-Gaut M, et al. Among authors: cortes m. Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31. Am J Hum Genet. 2023. PMID: 36724785 Free PMC article.
AMPA Receptor Surface Expression Is Regulated by S-Nitrosylation of Thorase and Transnitrosylation of NSF.
Umanah GKE, Ghasemi M, Yin X, Chang M, Kim JW, Zhang J, Ma E, Scarffe LA, Lee YI, Chen R, Tangella K, McNamara A, Abalde-Atristain L, Dar MA, Bennett S, Cortes M, Andrabi SA, Doulias PT, Ischiropoulos H, Dawson TM, Dawson VL. Umanah GKE, et al. Among authors: cortes m. Cell Rep. 2020 Nov 3;33(5):108329. doi: 10.1016/j.celrep.2020.108329. Cell Rep. 2020. PMID: 33147468 Free PMC article.
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.
Rogers EJ, Jada R, Schragenheim-Rozales K, Sah M, Cortes M, Florence M, Levy NS, Moss R, Walikonis RS, Palty R, Shalgi R, Lichtman D, Kavushansky A, Gerges NZ, Kahn I, Umanah GKE, Levy AP. Rogers EJ, et al. Among authors: cortes m. Front Mol Neurosci. 2019 Feb 20;12:43. doi: 10.3389/fnmol.2019.00043. eCollection 2019. Front Mol Neurosci. 2019. PMID: 30842726 Free PMC article.
Evaluation of particulate organic carbon from MODIS-Aqua in a marine-coastal water body.
De Jesús Morales-Acuña E, Aguíñiga-García S, Cervantes-Duarte R, Cortés MY, Escobedo-Urías D, Silverberg N. De Jesús Morales-Acuña E, et al. Among authors: cortes my. Environ Sci Pollut Res Int. 2024 Apr 19. doi: 10.1007/s11356-024-33297-8. Online ahead of print. Environ Sci Pollut Res Int. 2024. PMID: 38637481
953 results