Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Bianca Barbosa Abdala"'
Autor:
Suely Rodrigues dos Santos, Rafael Mina Piergiorge, Jady Rocha, Bianca Barbosa Abdala, Andressa Pereira Gonçalves, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças
Publikováno v:
Metabolic brain diseaseWeb ResourcesThe URLs for data presented herein are as follows. 37(7)
Yin and Yang 1 gene (YY1; MIM#600,013) is recognized as a dual transcriptional activating and repressing factor, RNA-binding protein, and 3D chromatin regulator, with multi roles in neurodevelopmental and maintenance pathways. YY1 haploinsufficiency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::366c0f5310477d732848897403ad8e99
https://pubmed.ncbi.nlm.nih.gov/35829845
https://pubmed.ncbi.nlm.nih.gov/35829845
Autor:
Christopher M. Grochowski, Andressa Pereira Gonçalves, Jussara Mendonça dos Santos, Claudia Marcia Benedetto de Carvalho, Carla Rosenberg, Bianca Barbosa Abdala, Davut Pehlivan, Raquel Boy, Márcia Mattos Gonçalves Pimentel, Leonor Gusmão, Ana Cristina Victorino Krepischi, Cíntia Barros Santos-Rebouças
Publikováno v:
European journal of medical genetics. 64(12)
MECP2 duplication syndrome (MDS) is caused by copy number variation (CNV) spanning the MECP2 gene at Xq28 and is a major cause of intellectual disability (ID) in males. Herein, we describe two unrelated males harboring non-recurrent complex Xq28 rear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b308e5656e1fcc2a6475a36a0821bc9a
https://pubmed.ncbi.nlm.nih.gov/34678473
https://pubmed.ncbi.nlm.nih.gov/34678473
Autor:
Cíntia Barros Santos-Rebouças, Jussara Mendonça dos Santos, Márcia Mattos Gonçalves Pimentel, Veluma Calassara, Bianca Barbosa Abdala, Filipe Brum Machado, Andressa Pereira Gonçalves, Raquel Boy, Rafael Mina Piergiorge, Evelyn Quintanilha Vianna, Enrique Medina-Acosta
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)
Frontiers in Genetics, Vol 11 (2020)
In mammalian females, X-chromosome inactivation (XCI) acts as a dosage compensation mechanism that equalizes X-linked genes expression between homo- and heterogametic sexes. However, approximately 12-23% of X-linked genes escape from XCI, being bi-al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9de311ca542800d722ebc7c487c76a8
http://europepmc.org/articles/PMC7064548
http://europepmc.org/articles/PMC7064548
Autor:
Margarete Borges de Borges, Bianca Barbosa Abdala, Andressa Pereira Gonçalves, Jerson Laks, Cíntia Barros Santos-Rebouças, Jussara Mendonça dos Santos, Luciana Branco da Motta, Márcia Mattos Gonçalves Pimentel
Publikováno v:
Neuroscience Letters. 653:341-345
About 30-70% of familial Alzheimer's disease (AD) cases are related to mutations in presenilin-1 gene (PSEN1). Although the role of mutations and common variants in AD had been extensively investigated, the contribution of rare or low frequency PSEN1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f8fc3bbf885f430ff6c22d91ed6fadd
https://doi.org/10.1016/j.neulet.2017.05.053
https://doi.org/10.1016/j.neulet.2017.05.053
Autor:
Cíntia Barros Santos-Rebouças, Jerson Laks, Denise Hack Nicaretta, Margarete Borges de Borges, Bianca Barbosa Abdala, Ana Lúcia Zuma de Rosso, Márcia Mattos Gonçalves Pimentel, Luciana Branco da Motta, Andressa Pereira Gonçalves, João Santos Pereira, Jussara Mendonça dos Santos
Publikováno v:
NeuroMolecular Medicine. 19:293-299
Alzheimer's (AD) and Parkinson's diseases (PD) share clinical and pathological features, suggesting that they could have common pathogenic mechanisms, as well as overlapping genetic modifiers. Here, we performed a case-control study in a Brazilian po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc9159c093b68ebbf4a43e4a95d44fa7
https://doi.org/10.1007/s12017-017-8444-z
https://doi.org/10.1007/s12017-017-8444-z