Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Natércia, Conceição"'
Publikováno v:
BioChem, Vol 2, Iss 2, Pp 160-170 (2022)
The Molecular Genetics Mobile Lab or “Laboratório itinerante de Genética Molecular” (Lab-it) was funded in 2008 by Leonor Cancela to promote the learning of molecular genetics which had been introduced at that time into high school biology prog
Externí odkaz:
https://doaj.org/article/d4dfc92b73244bf1b0eae5d7a31050a4
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
Autor:
Andreia Adrião, Sara Mariano, José Mariano, Paulo J. Gavaia, M. Leonor Cancela, Marta Vitorino, Natércia Conceição
Publikováno v:
Biomolecules, Vol 13, Iss 5, p 805 (2023)
The transcription factor MEF2C is crucial in neuronal, cardiac, bone and cartilage molecular processes, as well as for craniofacial development. MEF2C was associated with the human disease MRD20, whose patients show abnormal neuronal and craniofacial
Externí odkaz:
https://doaj.org/article/88e09451c18f4026895726c0e2fa4f37
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Keutel syndrome (KS) is a rare autosomal recessive genetic disorder that was first identified in the beginning of the 1970s and nearly 30 years later attributed to loss-of-function mutations in the gene coding for the matrix Gla protein (MGP). Patien
Externí odkaz:
https://doaj.org/article/ce84dd41aaa34b539c4540502dbea336
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100990- (2021)
Externí odkaz:
https://doaj.org/article/c0e018561b8f43f0a874acaff174faaa
Autor:
Helena Caiado, Natércia Conceição, Daniel Tiago, Ana Marreiros, Susana Vicente, Jose Luis Enriquez, Ana Margarida Vaz, Artur Antunes, Horácio Guerreiro, Paulo Caldeira, M. Leonor Cancela
Publikováno v:
Data in Brief, Vol 31, Iss , Pp 105765- (2020)
The data presented in this article is related with the research paper entitled “Evaluation of MGP gene expression in colorectal cancer”, available on Gene journal [1]. From all the transcription factors known to regulate MGP, FGF2 is the most des
Externí odkaz:
https://doaj.org/article/37f7dd72c87b4fa09f0dafcb999b46e8
Publikováno v:
Genome. 65:513-523
Optineurin (OPTN) is involved in a variety of mechanisms, such as autophagy, vesicle trafficking, and nuclear factor kappa-B (NF-κB) signaling. Mutations in the OPTN gene have been associated with different pathologies, including glaucoma, amyotroph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd27509a3e2e713ec7d1eaa29eadc716
https://doi.org/10.1139/gen-2022-0019
https://doi.org/10.1139/gen-2022-0019
Autor:
Magnus Bäck, Tamas Aranyi, M. Leonor Cancela, Miguel Carracedo, Natércia Conceição, Georges Leftheriotis, Vicky Macrae, Ludovic Martin, Yvonne Nitschke, Andreas Pasch, Daniela Quaglino, Frank Rutsch, Catherine Shanahan, Victor Sorribas, Flora Szeri, Pedro Valdivielso, Olivier Vanakker, Hervé Kempf
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 5 (2019)
The physicochemical deposition of calcium-phosphate in the arterial wall is prevented by calcification inhibitors. Studies in cohorts of patients with rare genetic diseases have shed light on the consequences of loss-of-function mutations for differe
Externí odkaz:
https://doaj.org/article/3fe708b1561b45f9ade871982d4502e6
Autor:
Iris A L Silva, Natércia Conceição, Édith Gagnon, Jacques P Brown, M Leonor Cancela, Laëtitia Michou
Publikováno v:
PLoS ONE, Vol 13, Iss 5, p e0197543 (2018)
Paget's disease of bone (PDB) is a chronic bone disorder and although genetic factors appear to play an important role in its pathogenesis, to date PDB causing mutations were identified only in the Sequestosome 1 (SQSTM1) gene at the PDB3 locus. PDB6
Externí odkaz:
https://doaj.org/article/725b6e96d2004e149850d6cc290e3a27
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