Jorge L Rodriguez-Gil
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Explore the profile of Jorge L Rodriguez-Gil including associated specialties, affiliations and a list of published articles.
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33
Citations
1589
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Recent Articles
11.
Graff M, Justice A, Young K, Marouli E, Zhang X, Fine R, et al.
Am J Hum Genet
. 2021 Mar;
108(4):564-582.
PMID: 33713608
Although many loci have been associated with height in European ancestry populations, very few have been identified in African ancestry individuals. Furthermore, many of the known loci have yet to...
12.
Rodriguez-Gil J, Watkins-Chow D, Baxter L, Elliot G, Harper U, Wincovitch S, et al.
Dis Model Mech
. 2020 Jan;
13(3).
PMID: 31996359
Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological degeneration...
13.
Rodriguez-Gil J, Watkins-Chow D, Baxter L, Yokoyama T, Zerfas P, Starost M, et al.
J Clin Med
. 2019 Dec;
9(1).
PMID: 31861571
The rare lysosomal storage disorder Niemann-Pick disease type C1 (NPC1) arises from mutation of , which encodes a lysosomal transmembrane protein essential for normal transport and trafficking of cholesterol and...
14.
Murphy M, Liu S, Yao S, Huo D, Liu Q, Dolfi S, et al.
NPJ Breast Cancer
. 2017 Jun;
3:5.
PMID: 28649645
A coding region polymorphism exists in the gene (Pro47Ser; rs1800371) in individuals of African descent, which reduces p53 tumor suppressor function in a mouse model. It has been unclear whether...
15.
Feng Y, Rhie S, Huo D, Ruiz-Narvaez E, Haddad S, Ambrosone C, et al.
Cancer Epidemiol Biomarkers Prev
. 2017 Apr;
26(7):1016-1026.
PMID: 28377418
Genome-wide association studies have identified approximately 100 common genetic variants associated with breast cancer risk, the majority of which were discovered in women of European ancestry. Because of different patterns...
16.
Huo D, Feng Y, Haddad S, Zheng Y, Yao S, Han Y, et al.
Hum Mol Genet
. 2017 Feb;
25(21):4835-4846.
PMID: 28171663
Multiple breast cancer loci have been identified in previous genome-wide association studies, but they were mainly conducted in populations of European ancestry. Women of African ancestry are more likely to...
17.
Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett R, Aflaki E, et al.
Dis Model Mech
. 2016 Aug;
9(7):769-78.
PMID: 27482815
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1 Dysfunctional glucocerebrosidase leads to...
18.
Chen F, He J, Zhang J, Chen G, Thomas V, Ambrosone C, et al.
PLoS One
. 2015 Jul;
10(6):e0131106.
PMID: 26125186
Height has an extremely polygenic pattern of inheritance. Genome-wide association studies (GWAS) have revealed hundreds of common variants that are associated with human height at genome-wide levels of significance. However,...
19.
Bhatia G, Tandon A, Patterson N, Aldrich M, Ambrosone C, Amos C, et al.
Am J Hum Genet
. 2014 Sep;
95(4):437-44.
PMID: 25242497
The extent of recent selection in admixed populations is currently an unresolved question. We scanned the genomes of 29,141 African Americans and failed to find any genome-wide-significant deviations in local...
20.
Rodriguez-Gil J, Takita C, Wright J, Reis I, Zhao W, Lally B, et al.
Cancer Epidemiol Biomarkers Prev
. 2014 Jun;
23(9):1873-83.
PMID: 24917184
Background: Breast cancer is the most frequently diagnosed cancer and the second leading cause of cancer death in American women. Postsurgery adjuvant radiotherapy (RT) significantly reduced the local recurrence rate....