Zobrazeno 1 - 10
of 13
pro vyhledávání: '"João D Santos"'
Autor:
Charles-Elie Rabier, Vincent Berry, Marnus Stoltz, João D Santos, Wensheng Wang, Jean-Christophe Glaszmann, Fabio Pardi, Celine Scornavacca
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 9, p e1008380 (2021)
For various species, high quality sequences and complete genomes are nowadays available for many individuals. This makes data analysis challenging, as methods need not only to be accurate, but also time efficient given the tremendous amount of data t
Externí odkaz:
https://doaj.org/article/98f4faaef9124aaabff69bd651787efe
Autor:
Cláudia Almeida Loureiro, João D. Santos, Ana Margarida Matos, Peter Jordan, Paulo Matos, Carlos M. Farinha, Francisco R. Pinto
Publikováno v:
Frontiers in Pharmacology, Vol 10 (2019)
In cystic fibrosis, the most common disease-causing mutation is F508del, which causes not only intracellular retention and degradation of CFTR, but also defective channel gating and decreased membrane stability of the small amount that reaches the pl
Externí odkaz:
https://doaj.org/article/a701e9513de044f59e86c59a01359ab3
Autor:
João D. Santos, Sara Canato, Ana S. Carvalho, Hugo M. Botelho, Kerman Aloria, Margarida D. Amaral, Rune Matthiesen, Andre O. Falcao, Carlos M. Farinha
Publikováno v:
Cells, Vol 8, Iss 4, p 353 (2019)
The most common cystic fibrosis-causing mutation (F508del, present in ~85% of CF patients) leads to CFTR misfolding, which is recognized by the endoplasmic reticulum (ER) quality control (ERQC), resulting in ER retention and early degradation. It is
Externí odkaz:
https://doaj.org/article/8c742a672b6c4bb389c4e071889ff2bf
Autor:
Francisco R. Pinto, Carlos M. Farinha, João Filipe Ferreira, João D. Santos, Margarida D. Amaral, Manuela Zaccolo
Publikováno v:
Biochemical Journal. 477:2561-2580
Cystic Fibrosis (CF), the most common lethal autosomic recessive disorder among Caucasians, is caused by mutations in the gene encoding the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein, a cAMP-regulated chloride channel expresse
Publikováno v:
Rice
Rice, Springer Open, 2021, 14 (1), ⟨10.1186/s12284-021-00479-8⟩
Rice, Vol 14, Iss 1, Pp 1-18 (2021)
Rice, Springer Open, 2021, 14 (1), ⟨10.1186/s12284-021-00479-8⟩
Rice, Vol 14, Iss 1, Pp 1-18 (2021)
Understanding crops genetic diversity and the evolutionary processes that accompanied their world-wide spread is useful for designing effective breeding strategies. Madagascar Island was one of the last major Old World areas where human settlement wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b32705e4540ccc9737967b735646a0
https://hal.inrae.fr/hal-03263132
https://hal.inrae.fr/hal-03263132
Autor:
Carlos M. Farinha, Ana P. Carapeto, Tiago Robalo, Miguel V. Vitorino, Mário Rodrigues, Sofia Ramalho, João D. Santos
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 2916, p 2916 (2020)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). A single recessive mutation, the deletion of phenylalanine 508 (F508del), causes severe CF and resides on 70% of mutant c
Autor:
João D. G. Correia, João D. Santos, Bruno L. Oliveira, Vera F. C. Ferreira, Carlos M. Farinha, Filipa Mendes
Publikováno v:
ChemMedChem. 13:1469-1478
Cystic fibrosis (CF) is caused by mutations in the gene that encodes the CF transmembrane conductance regulator (CFTR) protein. The most common mutation, F508del, leads to almost total absence of CFTR at the plasma membrane, a defect potentially corr
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
Roost fidelity is an important aspect of mammalian biology. Studying the mechanisms underlying philopatry can help us understand a species’ energetic requirements, ecological constraints and social organisation. Temperate bat species notably exhibi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a759187d3325e6cee956ff63576043
https://doi.org/10.1101/675215
https://doi.org/10.1101/675215
Autor:
Kerman Aloria, Margarida D. Amaral, Carlos M. Farinha, João D. Santos, André O. Falcão, Ana Sofia Carvalho, Rune Matthiesen, Sara Canato, Hugo M. Botelho
Publikováno v:
Cells
Volume 8
Issue 4
Addi. Archivo Digital para la Docencia y la Investigación
instname
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Cells, Vol 8, Iss 4, p 353 (2019)
Volume 8
Issue 4
Addi. Archivo Digital para la Docencia y la Investigación
instname
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Cells, Vol 8, Iss 4, p 353 (2019)
The most common cystic fibrosis-causing mutation (F508del, present in ~85% of CF patients) leads to CFTR misfolding, which is recognized by the endoplasmic reticulum (ER) quality control (ERQC), resulting in ER retention and early degradation. It is
Autor:
João D, Santos, Dmytro, Chebotarov, Kenneth L, McNally, Jérôme, Bartholomé, Gaëtan, Droc, Claire, Billot, Jean Christophe, Glaszmann
Publikováno v:
Genome Biology and Evolution
Modern rice cultivars are adapted to a range of environmental conditions and human preferences. At the root of this diversity is a marked genetic structure, owing to multiple foundation events. Admixture and recurrent introgression from wild sources