Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Natalia Wasiluk"'
Autor:
Bas Brouwers, Edson Mendes de Oliveira, Maria Marti-Solano, Fabiola B.F. Monteiro, Suli-Anne Laurin, Julia M. Keogh, Elana Henning, Rebecca Bounds, Carole A. Daly, Shane Houston, Vikram Ayinampudi, Natalia Wasiluk, David Clarke, Bianca Plouffe, Michel Bouvier, M. Madan Babu, I. Sadaf Farooqi, Jacek Mokrosiński
Publikováno v:
Cell Reports, Vol 34, Iss 12, Pp 108862- (2021)
Summary: The Melanocortin-4 Receptor (MC4R) plays a pivotal role in energy homeostasis. We used human MC4R mutations associated with an increased or decreased risk of obesity to dissect mechanisms that regulate MC4R function. Most obesity-associated
Externí odkaz:
https://doaj.org/article/47adf08d015c4c769ac1331dc6211c1b
Autor:
Aliki Perdikari, Jacek Mokrosinski, Tabitha Randell, I. Sadaf Farooqi, Sharon Lim, Fleur Talbot, Rebecca Bounds, Melanie Kershaw, Deepthi Jyothish, Edson Mendes de Oliveira, Tim Cheetham, Antoinette McAulay, Vikram Ayinampudi, Elizabeth C Crowne, Inês Barroso, Peter T Clayton, Praveen Partha, Cristina Matei, Sanjay Gupta, Louise C Wilson, Elana Henning, Keogh Jm, Rachel Ahmed, Natalia Wasiluk
Publikováno v:
New England Journal of Medicine. 385:1581-1592
Background GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. GNAS mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albri
Autor:
Edson, Mendes de Oliveira, Julia M, Keogh, Fleur, Talbot, Elana, Henning, Rachel, Ahmed, Aliki, Perdikari, Rebecca, Bounds, Natalia, Wasiluk, Vikram, Ayinampudi, Inês, Barroso, Jacek, Mokrosiński, Deepthi, Jyothish, Sharon, Lim, Sanjay, Gupta, Melanie, Kershaw, Cristina, Matei, Praveen, Partha, Tabitha, Randell, Antoinette, McAulay, Louise C, Wilson, Tim, Cheetham, Elizabeth C, Crowne, Peter, Clayton, I Sadaf, Farooqi
Publikováno v:
The New England journal of medicine. 385(17)
We performed exome sequencing and targeted resequencing in 2548 children who presented with severe obesity, and we unexpectedly identified 22Almost allBecause pathogenic mutations may manifest with obesity alone, screening of children with severe obe
Autor:
M. Madan Babu, Elana Henning, Maria Marti-Solano, Bianca Plouffe, Carole A. Daly, Julia M. Keogh, Michel Bouvier, Bas Brouwers, Rebecca Bounds, Jacek Mokrosinski, Fabiola B.F. Monteiro, I. Sadaf Farooqi, Suli-Anne Laurin, Vikram Ayinampudi, David Clarke, Natalia Wasiluk, Edson Mendes de Oliveira, Shane Houston
Publikováno v:
Cell Reports
Brouwers, B, Mendes de Oliveira, E, Marti-Solano, M, B.F. Monteiro, F, Laurin, S-A, M. Keogh, J, Henning, E, Bounds, R, Daly, C A, Houston, S, Ayinampudi, V, Wasiluk, N, Clarke, D, Plouffe, B, Bouvier, M, Babu, M M, Farooqi, I S & Mokrosinski, J 2021, ' Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation ', Cell Reports, vol. 34, no. 12, 108862 . https://doi.org/10.1016/j.celrep.2021.108862
Cell Reports, Vol 34, Iss 12, Pp 108862-(2021)
Brouwers, B, Mendes de Oliveira, E, Marti-Solano, M, B.F. Monteiro, F, Laurin, S-A, M. Keogh, J, Henning, E, Bounds, R, Daly, C A, Houston, S, Ayinampudi, V, Wasiluk, N, Clarke, D, Plouffe, B, Bouvier, M, Babu, M M, Farooqi, I S & Mokrosinski, J 2021, ' Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation ', Cell Reports, vol. 34, no. 12, 108862 . https://doi.org/10.1016/j.celrep.2021.108862
Cell Reports, Vol 34, Iss 12, Pp 108862-(2021)
Summary The Melanocortin-4 Receptor (MC4R) plays a pivotal role in energy homeostasis. We used human MC4R mutations associated with an increased or decreased risk of obesity to dissect mechanisms that regulate MC4R function. Most obesity-associated m
Publikováno v:
Journal of Cell Science
EB proteins track the ends of growing microtubules and regulate microtubule dynamics both directly and by acting as the hub of the tip-tracking network. Mammalian cells express cell type-specific combinations of three EB proteins with different cellu