Detalhe da pesquisa
1.
GPR146 Deficiency Protects against Hypercholesterolemia and Atherosclerosis.
Cell
; 179(6): 1276-1288.e14, 2019 11 27.
Artigo
Inglês
| MEDLINE | ID: mdl-31778654
2.
G protein-coupled receptor 146: new insights from genetics and model systems.
Curr Opin Lipidol
; 35(3): 162-169, 2024 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38465903
3.
Primary hypocholesterolemia is associated with an increased risk of hepatic complications in the general population.
J Hepatol
; 80(6): 846-857, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38331324
4.
Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion.
Hepatology
; 78(5): 1418-1432, 2023 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36053190
5.
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.
Circ Res
; 130(1): 80-95, 2022 01 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34809444
6.
Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Circulation
; 146(10): 724-739, 2022 09 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35899625
7.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Haematologica
; 108(6): 1652-1666, 2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36700397
8.
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Haematologica
; 108(11): 3068-3085, 2023 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37317877
9.
Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile.
Arterioscler Thromb Vasc Biol
; 42(10): 1262-1271, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36047410
10.
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol
; 41(1): e63-e71, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33207932
11.
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35457099
12.
Taking One Step Back in Familial Hypercholesterolemia: STAP1 Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans.
Arterioscler Thromb Vasc Biol
; 40(4): 973-985, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31996024
13.
A common variant in CCDC93 protects against myocardial infarction and cardiovascular mortality by regulating endosomal trafficking of low-density lipoprotein receptor.
Eur Heart J
; 41(9): 1040-1053, 2020 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31630160
14.
Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women.
Circulation
; 137(8): 820-831, 2018 02 20.
Artigo
Inglês
| MEDLINE | ID: mdl-29459468
15.
Use of plasma metabolomics to analyze phenotype-genotype relationships in young hypercholesterolemic females.
J Lipid Res
; 59(11): 2174-2180, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30266833
16.
PCSK9 inhibition protects mice from food allergy.
Transl Res
; 2024 Mar 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38471633
17.
DHCR24 inhibitor SH42 increases desmosterol without preventing atherosclerosis development in mice.
iScience
; 27(6): 109830, 2024 Jun 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38770137
18.
LDL lowering effect of PCSK9 inhibition is reduced in women.
Eur Heart J Cardiovasc Pharmacother
; 9(4): 337-342, 2023 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36722156
19.
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Genes (Basel)
; 14(5)2023 05 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37239426
20.
Generation of an induced pluripotent stem cell line (ITXi012-A) from a patient with genetically determined high-lipoprotein(a) plasma levels.
Stem Cell Res
; 72: 103205, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37734317