Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Tatiana Varela"'
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental condition characterized primarily by seizures and impairment of cognitive and motor skills. Additional phenotypes include microcephaly, dysmorphic facial features, and scoliosis. M
Externí odkaz:
https://doaj.org/article/46d980a8572d48188c6f5d09a2d1af0a
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100990- (2021)
Externí odkaz:
https://doaj.org/article/c0e018561b8f43f0a874acaff174faaa
Autor:
Joana Rosa, Alessio Carletti, Tatiana Varela, Paulo J. Gavaia, M. Leonor Cancela, Vincent Laizé
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100985- (2021)
Externí odkaz:
https://doaj.org/article/2b7e2d1589f94b308c91246955045ce7
Publikováno v:
The international journal of biochemistrycell biology. 154
Mutations in Zinc finger 687 (ZNF687) were associated with Paget's disease of bone (PDB), a disease charac-terized by increased bone resorption and excessive bone formation. It was suggested that ZNF687 plays a role in bone differentiation and develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711260c24faee0dbda5e1c07820297ff
https://pubmed.ncbi.nlm.nih.gov/36372390
https://pubmed.ncbi.nlm.nih.gov/36372390
Autor:
Tatiana Varela, Salomé Pereira, M. Leonor Cancela, Ângela Ferreira, Débora Varela, Ana Camacho, Ilídio de Jesus, Natércia Conceição, Ana Paula Silva, Nuno Marques, Pedro Azevedo
Publikováno v:
Molecular Genetics and Genomics. 296:809-821
Holt-Oram syndrome (HOS) is a rare disorder characterized by cardiac and upper-limb defects. Pathogenic variants in TBX5-a gene encoding a transcription factor important for heart and skeletal development-are the only known cause of HOS. Here, we pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b98e1d0d25281270025df54f42552e31
https://doi.org/10.1007/s00438-021-01781-2
https://doi.org/10.1007/s00438-021-01781-2
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Dual specificity phosphatase 4 (DUSP4), a member of the dual specificity phosphatase family, is responsible for the dephosphorylation and inactivation of ERK, JNK and p38, which are mitogen-activated protein kinases involved in cell proliferation, di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc5cc9f4f01fbea8e8edc350fef3feb3
https://pubmed.ncbi.nlm.nih.gov/34254709
https://pubmed.ncbi.nlm.nih.gov/34254709
Publikováno v:
Bone Reports, Vol 14, Iss, Pp 100990-(2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::953052c55924fcb8a0c7eaf6a63edae8
http://www.sciencedirect.com/science/article/pii/S235218722100245X
http://www.sciencedirect.com/science/article/pii/S235218722100245X
Autor:
Tatiana Varela, Paulo J. Gavaia, Alessio Carletti, Vincent Laizé, M. Leonor Cancela, Joana Rosa
Publikováno v:
Bone reports
Bone Reports, Vol 14, Iss, Pp 100985-(2021)
Bone Reports, Vol 14, Iss, Pp 100985-(2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad7499bd2df14d433e7b5764d1efc4ce
Autor:
Tatiana, Varela, Vincent, Laizé, Natércia, Conceição, Paulo, Caldeira, Ana, Marreiros, Horácio, Guerreiro, M Leonor, Cancela
Publikováno v:
Biomarkers in medicine. 14(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::17db8d8ef36e810014eef6708e0fdc14
https://pubmed.ncbi.nlm.nih.gov/32613839
https://pubmed.ncbi.nlm.nih.gov/32613839