Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Susan V. Smalley"'
Autor:
Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos
Publikováno v:
Genetics and Molecular Biology, Vol 38, Iss 1, Pp 30-36 (2015)
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol
Externí odkaz:
https://doaj.org/article/8c4aa20bed8740f3b713e55ad5915b7d
Publikováno v:
Revista médica de Chile. 142:616-622
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25
Autor:
Javier Andrés Vega, Susan V. Smalley, José Suazo, Luis Rodrigo Cataldo, José Luis Santos, Guillermo Cubillos
Publikováno v:
Journal of Threatened Taxa, Vol 6, Iss 5, Pp 5712-5717 (2014)
Natural populations of Chimpanzees Pan troglodytes are declining because of hunting and illegal live animal trafficking. Four subspecies of Chimpanzee have been reported: Pan troglodytes troglodytes, P.t. schweinfurthii, P.t. verus and P.t. ellioti,
Autor:
Javier Campión, José Luis Santos, Javier Andrés Vega, Alberto Maiz, Susan V. Smalley, Carlos F. Lagos, J. Alfredo Martínez, Yudith Preiss, Enzo Rivera, José Suazo, Isidora Angellotti, Karin Kleinsteuber
Publikováno v:
Genetics and Molecular Biology
Genetics and Molecular Biology v.38 n.1 2015
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 38, Iss 1, Pp 30-36 (2015)
Genetics and Molecular Biology, Volume: 38, Issue: 1, Pages: 30-36, Published: MAR 2015
Genetics and Molecular Biology v.38 n.1 2015
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 38, Iss 1, Pp 30-36 (2015)
Genetics and Molecular Biology, Volume: 38, Issue: 1, Pages: 30-36, Published: MAR 2015
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol
Autor:
Susan V. Smalley, José Suazo, Andrea González, María Isabel Hodgson, José Luis Santos, Gerardo Weisstaub
Publikováno v:
Revista médica de Chile. 142:290-298
Background: Metabolic Syndrome (MS) is highly prevalent among obese children and adolescents and is considered a predictor for the development of type 2 diabetes mellitus and cardiovascular disease. Obesity is associated with an increase in circulati
Autor:
Pablo Olmos, Roger Gejman, Ricardo Fadic, José Luis Santos, Luis Rodrigo Cataldo, Susan V. Smalley, Alejandra Parada, Alberto Diez
Publikováno v:
Revista médica de Chile v.141 n.3 2013
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Maternally Inherited Diabetes and Deafness (MIDD) is caused by mutations in mitochondrial DNA (mtDNA), mainly m.3243A>G. Severity, onset and clinical phenotype of MIDD patients are partially determined by the proportion of mutant mitochondrial DNA co
Autor:
Susan V. Smalley, Mauricio Camus, Paulina Kohen, Alejandro H. Corvalan, Pilar Carvallo, Manuel Alvarez, Alex Muñoz, Luigi Devoto, Paola Faundez, Luisa M. Solis, Teresa Tapia
Publikováno v:
Epigenetics
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
EPIGENETICS
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
EPIGENETICS
Germline mutations in BRCA1 account for a low proportion of hereditary cases in diverse populations. Several efforts have been made to find new genes involved in the inheritance of breast cancer with no success until today. The participation of BRCA1
Autor:
Javier Cerda-Infante, Alejandro Godoy, Claudia Hurtado, Ignacio F. San Francisco, Susan V. Smalley, Viviana P. Montecinos, Pablo A. Rojas, Verónica Torres-Estay
Publikováno v:
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Journal of Cellular and Molecular Medicine
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Journal of Cellular and Molecular Medicine
To study the association between the polymorphisms Arg462Gln and Asp541Glu from the RNASEL gene (1q25), and the polymorphisms rs620861, rs1447295, rs6983267, rs7837328 from the chromosome 8q24 with the risk of presenting prostate cancer (PCa) and its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85991094dd6fc0099052739f95af3914
Autor:
José Luis Santos, Carlos F. Lagos, Víctor Cortés, Susan V. Smalley, Denisse Goldenberg, María Isabel Hodgson
Publikováno v:
PLoS ONE
PLOS ONE
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
PLoS ONE, Vol 9, Iss 1, p e87173 (2014)
PLOS ONE
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
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
Publikováno v:
Revista chilena de nutrición v.40 n.2 2013
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Numerosos cambios en la concentración plasmática de metabolitos y hormonas ocurren durante el ejercicio físico, tales como el incremento de los niveles de lactato, hormona de crecimiento, cortisol y catecolaminas. Se ha propuesto que el músculo e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f4ab44409e32a67578c71a5c58a39e3
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-75182013000200013
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-75182013000200013