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The role of Calmodulin Binding Transcription Activator 1 (CAMTA1) gene and its putative genetic partners in the human nervous system.
Alves, Gilda; Ornellas, Maria Helena; Liehr, Thomas.
Afiliação
  • Alves G; Circulating Biomarkers Laboratory, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Ornellas MH; Circulating Biomarkers Laboratory, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
Psychogeriatrics ; 22(6): 869-878, 2022 Nov.
Article em En | MEDLINE | ID: mdl-35949142
The Calmodulin Binding Transcription Activator 1 (CAMTA1) gene plays a central role in the human nervous system. Here evidence-based perspectives on its clinical value for the screening of CAMTA1 malfunction is provided and argued that in future, patients suffering from brain tumours and/or neurological disorders could benefit from this diagnostic. In neuroblastomas as well as in low-grade gliomas, the influence of reduced expression of CAMTA1 results in opposite prognosis, probably because of different carcinogenic pathways in which CAMTA1 plays different roles, but the exact genetics bases remains unsolved. Rearrangements, mutations and variants of CAMTA1 were associated with human neurodegenerative disorders, while some CAMTA1 single nucleotide polymorphisms were associated with poorer memory in clinical cases and also amyotrophic lateral sclerosis. So far, the follow-up of patients with neurological diseases with alterations in CAMTA1 indicates that defects (expression, mutations, and rearrangements) in CAMTA1 alone are not sufficient to drive carcinogenesis. It is necessary to continue studying CAMTA1 rearrangements and expression in more cases than done by now. To understand the influence of CAMTA1 variants and their role in nervous system tumours and in several psychiatric disorders is currently a challenge.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transativadores / Neuroblastoma Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Psychogeriatrics Assunto da revista: GERIATRIA / PSICOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Brasil País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transativadores / Neuroblastoma Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Psychogeriatrics Assunto da revista: GERIATRIA / PSICOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Brasil País de publicação: Reino Unido