Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Simão Teixeira da Rocha"'
Autor:
Joanna Jager, Marta Ribeiro, Marta Furtado, Teresa Carvalho, Petros Syrris, Luis R. Lopes, Perry M. Elliott, Joaquim M.S. Cabral, Maria Carmo-Fonseca, Simão Teixeira da Rocha, Sandra Martins
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103582- (2024)
Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy and a leading cause of sudden death. Genetic testing and familial cascade screening play a pivotal role in the clinical management of HCM patients. However, conventional
Externí odkaz:
https://doaj.org/article/5edfc9a3b9c6418ba358184eaa823d6b
Autor:
Marta Ribeiro, Joanna Jager, Marta Furtado, Teresa Carvalho, Joaquim M.S. Cabral, Dulce Brito, Maria Carmo-Fonseca, Sandra Martins, Simão Teixeira da Rocha
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103362- (2024)
Familial hypertrophic cardiomyopathy (HCM) stands as a predominant heart condition, characterised by left ventricle hypertrophy in the absence of any associated loading conditions, with affected individuals having an increased risk of developing hear
Externí odkaz:
https://doaj.org/article/07997f7151b04fc89b06b63ed073232b
Autor:
Marta Ribeiro, Sandra Martins, Teresa Carvalho, Marta Furtado, Joaquim Sampaio Cabral, Dulce Brito, Maria Carmo-Fonseca, Simão Teixeira da Rocha
Publikováno v:
Stem Cell Research, Vol 74, Iss , Pp 103282- (2024)
Familial hypertrophic cardiomyopathy (HCM) is the most common inherited heart condition. HCM patients show left ventricle hypertrophy without any associated loading conditions, being at risk for heart failure and sudden cardiac death. Two induced plu
Externí odkaz:
https://doaj.org/article/3da89f758431425d8fdb3a1016285b75
Autor:
João Camões dos Santos, Carolina Appleton, Francisca Cazaux Mateus, Rita Covas, Evguenia Pavlovna Bekman, Simão Teixeira da Rocha
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Angelman syndrome (AS) is an imprinted neurodevelopmental disorder that lacks a cure, characterized by developmental delay, intellectual impairment, seizures, ataxia, and paroxysmal laughter. The condition arises due to the loss of the maternally inh
Externí odkaz:
https://doaj.org/article/c0745e5a535e429a9295d07e6a7900e4
Autor:
Maria Arez, Melanie Eckersley-Maslin, Tajda Klobučar, João von Gilsa Lopes, Felix Krueger, Annalisa Mupo, Ana Cláudia Raposo, David Oxley, Samantha Mancino, Anne-Valerie Gendrel, Bruno Bernardes de Jesus, Simão Teixeira da Rocha
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-20 (2022)
Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) is associated with epigenetic alterations. Here the authors assess DNA methylation in detail in multiple female and male mouse iPSC lines generated with different protocols and fin
Externí odkaz:
https://doaj.org/article/fb75e50bfe994000b134b58a729bd94e
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Externí odkaz:
https://doaj.org/article/dc31f28cfe354631b4e4b729d76aead4
Autor:
Carina Maranga, Carolina Pereira, Ana Cláudia Raposo, Adriana Vieira, Sofia Duarte, Evguenia P. Bekman, Inês Milagre, Simão Teixeira da Rocha
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102757- (2022)
Angelman Syndrome is a rare neurodevelopmental disorder caused by several (epi)genetic alterations. The patients present strong neurological impairment due to the absence of a functional maternal UBE3A gene in neurons. Here, we generated and characte
Externí odkaz:
https://doaj.org/article/7ba55c842813453ba4be940e1643ee6d
Autor:
Teresa P. Silva, Carolina A. Pereira, Ana Cláudia Raposo, Ana Rita Oliveira, Maria Arez, Joaquim M.S. Cabral, Inês Milagre, Maria Carmo-Fonseca, Simão Teixeira da Rocha
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102364- (2021)
Women who inherit heterozygous mutations in the BRCA2 gene have an increased risk of developing cancer, mainly breast and ovarian tumors. A particular BRCA2 mutation (c.156_157insAlu) is exclusively found in families of Portuguese ancestry and is pre
Externí odkaz:
https://doaj.org/article/2a040b6245af402fbc8435ef6d6ffeb2
Publikováno v:
The FEBS Journal. 287:2154-2175
Angelman syndrome (AS) is an incurable neurodevelopmental disease caused by loss of function of the maternally inherited UBE3A gene. AS is characterized by a defined set of symptoms, namely severe developmental delay, speech impairment, uncontrolled
Autor:
Joaquim M. S. Cabral, Maria Arez, Ana Rita Oliveira, Teresa Silva, Inês Milagre, Maria Carmo-Fonseca, Ana Cláudia Raposo, Carolina A. Pereira, Simão Teixeira da Rocha
Publikováno v:
Stem Cell Research, Vol 53, Iss, Pp 102364-(2021)
Women who inherit heterozygous mutations in the BRCA2 gene have an increased risk of developing cancer, mainly breast and ovarian tumors. A particular BRCA2 mutation (c.156_157insAlu) is exclusively found in families of Portuguese ancestry and is pre