Zobrazeno 1 - 10
of 70
pro vyhledávání: '"José L Santos"'
Autor:
Alexandra M Binder, Leah T Stiemsma, Kristen Keller, Sanne D van Otterdijk, Verónica Mericq, Ana Pereira, José L Santos, John Shepherd, Karin B Michels
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-12 (2018)
Abstract Background Estrogen receptor-α (ER-α) is a transcriptional regulator, which mediates estrogen-dependent breast development, as well as breast tumorigenesis. The influence of epigenetic regulation of ER-α on adolescent breast composition h
Externí odkaz:
https://doaj.org/article/a2f803dfab9e450487fc62b7d64de388
Autor:
Luis Rodrigo Cataldo, María L Mizgier, Roberto Bravo Sagua, Fabián Jaña, César Cárdenas, Paola Llanos, Dolores Busso, Pablo Olmos, José E Galgani, José L Santos, Víctor A Cortés
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0170213 (2017)
Pancreatic β-cells synthesize and release serotonin (5 hydroxytryptamine, 5HT); however, the role of 5HT receptors on glucose stimulated insulin secretion (GSIS) and the mechanisms mediating this function is not fully understood. The aims of this st
Externí odkaz:
https://doaj.org/article/510b30c98039468584710ebcc079067a
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionInherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial. We report a non-familial (sporadic) case of partial lipodystrophy caused by a novel geneti
Externí odkaz:
https://doaj.org/article/d5d8c689fe0b46e392e39f5984b87b08
Autor:
Víctor A Cortés, Susan V Smalley, Denisse Goldenberg, Carlos F Lagos, María I Hodgson, José L Santos
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e87173 (2014)
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme reduction of white adipose tissue (WAT) mass. CGL type 1 is the most frequent form and is caused by mutations in AGPAT2. Genetic and clinical s
Externí odkaz:
https://doaj.org/article/835a1b893c3c4e508357da8867ee5eec
Autor:
José L Santos, Rolando De la Cruz, Claus Holst, Katrine Grau, Carolina Naranjo, Alberto Maiz, Arne Astrup, Wim H M Saris, Ian MacDonald, Jean-Michel Oppert, Torben Hansen, Oluf Pedersen, Thorkild I A Sorensen, J Alfredo Martinez, NUGENOB Consortium
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e19934 (2011)
INTRODUCTION: The melanocortin system plays an important role in energy homeostasis. Mice genetically deficient in the melanocortin-3 receptor gene have a normal body weight with increased body fat, mild hypophagia compared to wild-type mice. In huma
Externí odkaz:
https://doaj.org/article/a2ee3dac3984485cbc4378bc610fda73
Autor:
José P. Miranda, Ana Pereira, Camila Corvalán, Juan F. Miquel, Gigliola Alberti, Juan C. Gana, José L. Santos
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Gene variants in the UGT1A1 gene are strongly associated with circulating bilirubin levels in several populations, as well as other variants of modest effect across the genome. However, the effects of such variants are unknown regarding the Native Am
Externí odkaz:
https://doaj.org/article/549c2a7a7155479085641b2e3be5986d
Autor:
Charles Marques Lourenco, Pablo Corral, Raul D. Santos, Juan Patricio Nogueira, Carlos O. Mendivil, José L. Santos, Harry Pachajoa, Virginia Bañares, Maria Belen Mattos-Velez
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Familial chylomicronemia syndrome (FCS) is an autosomal recessive disorder, characterized by alterations in the catabolism of chylomicrons and by increased levels of plasma triglycerides. It has been shown that about 60-90% of FCS patients h
Externí odkaz:
https://doaj.org/article/a19a7e91ec1e49499e50bead991d6814
Autor:
Diana Ponce, Fernando Rodríguez, José P. Miranda, Alexandra M. Binder, José L. Santos, Karin B. Michels, Gordon B. Cutler, Ana Pereira, Germán Iñiguez, Verónica Mericq
Publikováno v:
Epigenetics, Vol 18, Iss 1 (2023)
Biochemical premature adrenarche is defined by elevated serum DHEAS [≥40 μg/dL] before age 8 y in girls. This condition is receiving more attention due to its association with obesity, hyperinsulinemia, dyslipidemia, and polycystic ovary syndrome.
Externí odkaz:
https://doaj.org/article/7428a6c1936f4beaa926de779c9b4405
Autor:
Amanda F. Romeiro, Markos P. Cardoso, Anderson O. Silva, João C. W. A. Costa, M. Thereza R. Giraldi, José L. Santos, José M. Baptista, Ariel Guerreiro
Publikováno v:
Journal of Microwaves, Optoelectronics and Electromagnetic Applications, Vol 22, Iss 1, Pp 219-229 (2023)
Abstract The growing demand for multiparameter sensors includes compact devices accompanied by simple calibration processes to distinguish the outputs from each other. This paper evaluates a scheme to determine multiple parameters of a medium using l
Externí odkaz:
https://doaj.org/article/cf51b08e08bf44299f05f9687b520b7f
Autor:
Lucas Vicuña, Esteban Barrientos, Tomás Norambuena, Danilo Alvares, Juan Cristobal Gana, Valeria Leiva-Yamaguchi, Cristian Meza, José L. Santos, Veronica Mericq, Ana Pereira, Susana Eyheramendy
Publikováno v:
iScience, Vol 26, Iss 2, Pp 106091- (2023)
Summary: Body-mass index (BMI) is a hallmark of adiposity. In contrast with adulthood, the genetic architecture of BMI during childhood is poorly understood. The few genome-wide association studies (GWAS) on children have been performed almost exclus
Externí odkaz:
https://doaj.org/article/2a516fbd953842e4868765552345c67d