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

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

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

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

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

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