The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker

Autor: Ricardo Martins-Ferreira, Bárbara Guerra Leal, Paulo Pinho Costa

Publikováno v: Frontiers in Cellular Neuroscience, Vol 16 (2022)

Circulating cell-free DNA (cfDNA) are highly degraded DNA fragments shed into the bloodstream. Apoptosis is likely to be the main source of cfDNA due to the matching sizes of cfDNA and apoptotic DNA cleavage fragments. The study of cfDNA in liquid bi

Externí odkaz: https://doaj.org/article/373e78dcee984a5eb38620245e3a2569

Cardiac Amyloidosis Associated with Apolipoprotein A-IV Deposition Diagnosed by Mass Spectrometry-Based Proteomic Analysis

Autor: Elisabete Martins, Joana Urbano, Sérgio Leite, Adriana Pinto, Raquel Garcia, Rui Bergantim, Pedro Rodrigues Pereira, Paulo Pinho Costa, Hugo Osório, Isabel Tavares

Publikováno v: European Journal of Case Reports in Internal Medicine (2019)

Amyloidosis is a group of disorders characterised by the accumulation of extracellular deposits of insoluble protein aggregates. Clinical management depends on the accurate identification of the amyloid precursor and underlying cause. We describe a r

Externí odkaz: https://doaj.org/article/4f499ab553f945b0a6256b52d1699e62

Epilepsy progression is associated with cumulative DNA methylation changes in inflammatory genes

Autor: Ricardo Martins-Ferreira, Bárbara Leal, João Chaves, Tianlu Li, Laura Ciudad, Rui Rangel, Agostinho Santos, António Martins da Silva, Paulo Pinho Costa, Esteban Ballestar

Publikováno v: Progress in neurobiology. 209

Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most common focal epilepsy in adults. It is characterized by alarming rates of pharmacoresistance. Epileptogenesis is associated with the occurrence of epigenetic alterations,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa54a2fde15eda0e2f51d5c5b0b7024f
https://pubmed.ncbi.nlm.nih.gov/34923048

Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis

Autor: João Melo Beirão, Paulo Torres, Carolina Lemos, Paulo Pinho-Costa, Jorge Malheiro, Eduarda Matos, Idalina Beirão

Publikováno v: Amyloid. 22:31-35

Purpose: Evaluation of the impact of liver transplantation in the natural history of ocular disorders in familial amyloidotic polyneuropathy (FAP) amyloidosis TTR V30M related (ATTR V30M) patients. Design: A clinical, retrospective and cross-sectiona

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fa424b5701862514e7643c3ce6fcd90
https://doi.org/10.3109/13506129.2014.989318

Amiloidose renal: classificação de 102 casos consecutivos

Autor: Isabel Tavares, Raquel Vaz, Luciana Moreira, Pedro Rodrigues Pereira, Susana Sampaio, Ramón Vizcaíno, J., João Paulo Oliveira, Paulo Pinho Costa, Luísa Lobato

Publikováno v: CIÊNCIAVITAE
Portuguese Journal of Nephrology & Hypertension, Volume: 28, Issue: 3, Pages: 201-209, Published: SEP 2014
Portuguese Journal of Nephrology & Hypertension v.28 n.3 2014
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Amyloidoses are a group of heterogeneous diseases classified according to the nature of their causative amyloid proteins. Commonly, paraffin-embedded tissue is used for the typing of amyloid by immunohistochemistry. DNA analysis should always be cons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::13de73e89e5a6281a05f1fee4c8c45ea
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000300003