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Page 1
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.
Moreira DP, Suzuki AM, Silva ALTE, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari MFR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann KS, de Lima MA, Nader HB, Sertié AL, Passos-Bueno MR. Moreira DP, et al. Among authors: varella branco e. Front Cell Neurosci. 2022 Jan 13;15:803302. doi: 10.3389/fncel.2021.803302. eCollection 2021. Front Cell Neurosci. 2022. PMID: 35095425 Free PMC article.
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi A, Rosenberg C, Passos-Bueno MR. Samogy-Costa CI, et al. Among authors: varella branco e. J Neurodev Disord. 2019 Jul 18;11(1):13. doi: 10.1186/s11689-019-9273-1. J Neurodev Disord. 2019. PMID: 31319798 Free PMC article.
DNA methylation of the promoter region at the CREB1 binding site is a mechanism for the epigenetic regulation of brain-specific PKMζ.
Pramio DT, Vieceli FM, Varella-Branco E, Goes CP, Kobayashi GS, da Silva Pelegrina DV, de Moraes BC, El Allam A, De Kumar B, Jara G, Farfel JM, Bennett DA, Kundu S, Viapiano MS, Reis EM, de Oliveira PSL, Dos Santos E Passos-Bueno MR, Rothlin CV, Ghosh S, Schechtman D. Pramio DT, et al. Among authors: varella branco e. Biochim Biophys Acta Gene Regul Mech. 2023 Mar;1866(1):194909. doi: 10.1016/j.bbagrm.2023.194909. Epub 2023 Jan 20. Biochim Biophys Acta Gene Regul Mech. 2023. PMID: 36682583 Free PMC article.
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, de Araújo FT, Santos Souza L, Moreira DP, Hsia GSP, Bertollo EMG, Buck CB, da Costa SS, Fialho DM, de Vasconcelos FTGR, Brito LA, de Souza Fraga Machado LE, Ramos IC, Pereira LDV, Koiffmann CP, E Passos-Bueno MRDS, Oliveira Mendes TA, Krepischi ACV, Rosenberg C. Carvalho LML, et al. Gene. 2023 Jun 30;871:147424. doi: 10.1016/j.gene.2023.147424. Epub 2023 Apr 11. Gene. 2023. PMID: 37054903
Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A).
Kobayashi GS, Vieira-Silva GA, Varella-Branco E, Moreira DP, Kitajima JPFW, Hemza CRML, Mingroni-Netto RC, Lojudice FH, Oiticica J, Bento RF, Batissoco AC, Lezirovitz K. Kobayashi GS, et al. Among authors: varella branco e. Stem Cell Res. 2023 Sep;71:103181. doi: 10.1016/j.scr.2023.103181. Epub 2023 Aug 9. Stem Cell Res. 2023. PMID: 37595341 Free article.
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Nair D, Diaz-Rosado A, Varella-Branco E, Ramos I, Black A, Angireddy R, Park J, Murali S, Yoon A, Ciesielski B, O'Brien WT, Passos-Bueno MR, Bhoj E. Nair D, et al. Among authors: varella branco e. Am J Med Genet A. 2023 Oct;191(10):2508-2517. doi: 10.1002/ajmg.a.63320. Epub 2023 Jun 23. Am J Med Genet A. 2023. PMID: 37353954