Výsledky vyhledávání - "Susan V Smalley"

Akademický článek

Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.

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

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Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos

Autor: José L. Santos, Yudith Preiss, Susan V Smalley, Alberto Maiz

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::56969560ffb2216cd5bfbc00fb58044d
https://doi.org/10.4067/s0034-98872014000500010

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Subspecies identification of Chimpanzees Pan troglodytes (Primates: Hominidae) from the National Zoo of the Metropolitan Park of Santiago, Chile, using mitochondrial DNA sequences

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,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14288a4cf253f45dffdcb8007012069c
http://threatenedtaxa.org/index.php/JoTT/article/view/231

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Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

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

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://explore.openaire.eu/search/publication?articleId=doi_dedup___::c56364be2d445714a092af379411b60d
http://europepmc.org/articles/PMC4415556

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Polimorfismos genéticos de interleuquina 6 (IL6), IL6R e IL18: asociación con componentes del síndrome metabólico en niños chilenos con obesidad

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::96c39f5ea2994b1d2ca2e2ce717df1bd
https://doi.org/10.4067/s0034-98872014000300002

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Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ab9684ba1dd86d233007a45a98deee
https://doi.org/10.4067/s0034-98872013000300004

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Promoter hypermethylation of BRCA1 correlates with absence of expression in hereditary breast cancer tumors

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2c6ef98601ed6ad0bf68663c818c392
https://doi.org/10.4161/epi.3.3.6387

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Melanocortin-4 receptor polymorphism rs17782313: association with obesity and eating in the absence of hunger in chilean children

Autor: Andrea González, Gerardo Weisstaub, M. Isabel Hodgson, Iris Paola Guzmán-Guzmán, José Luis Santos, Patricia Domínguez-Vásquez, Macarena Valladares, Ana María Obregón, Paola Amador, Susan V. Smalley, Judith Ho-Urriola

Publikováno v: NUTRITION
Artículos CONICYT
CONICYT Chile
instacron:CONICYT

Objective The aim of this study was to assess the association between melanocortin-4 receptor (MC4R) rs17782313 alleles with obesity and eating behavior scores in Chilean children. Methods A case–control study was conducted with 139 normal-weight a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5468f923576f51134d88aafb4a72eb05

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Association of rnasel and 8q24 variants with the presence and aggressiveness of hereditary and sporadic prostate cancer in a hispanic population

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

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

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Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study

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)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78dfc3e4efbbf10803a39fa7892686e5
https://pubmed.ncbi.nlm.nih.gov/24498038

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