Detalhe da pesquisa
1.
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease.
Hepatology
; 77(4): 1319-1334, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029129
2.
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Diabetes Obes Metab
; 25(7): 1950-1963, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36946378
3.
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
BMC Med
; 20(1): 95, 2022 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341481
4.
Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network.
Diabetes Obes Metab
; 24(8): 1565-1577, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445532
5.
Factors Associated With Being Overweight and Obesity in People Living With Human Immunodeficiency Virus on Antiretroviral Therapy: Socioclinical, Inflammation, and Metabolic Markers.
J Infect Dis
; 224(9): 1570-1580, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33740044
6.
Peroxisome proliferator-activated receptor gamma-ligand-binding domain mutations associated with familial partial lipodystrophy type 3 disrupt human trophoblast fusion and fibroblast migration.
J Cell Mol Med
; 24(13): 7660-7669, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32519441
7.
The lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal inducer T/Brachyury and early vascular differentiation gene networks.
Hum Mol Genet
; 27(8): 1447-1459, 2018 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29438482
8.
Seipin regulates ER-lipid droplet contacts and cargo delivery.
EMBO J
; 35(24): 2699-2716, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27879284
9.
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Clin Genet
; 98(1): 10-18, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32233106
10.
LMNA-associated partial lipodystrophy: anticipation of metabolic complications.
J Med Genet
; 54(6): 413-416, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28408391
11.
Extracellular matrix remodeling and transforming growth factor-ß signaling abnormalities induced by lamin A/C variants that cause lipodystrophy.
J Lipid Res
; 58(1): 151-163, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27845687
12.
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.
Hum Mol Genet
; 24(7): 2096-109, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25524705
13.
Deregulation of Fragile X-related protein 1 by the lipodystrophic lamin A p.R482W mutation elicits a myogenic gene expression program in preadipocytes.
Hum Mol Genet
; 23(5): 1151-62, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108105
14.
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Am J Hum Genet
; 93(1): 141-9, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810378
15.
Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.
Skeletal Radiol
; 45(11): 1495-506, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27631079
16.
Plasma cholesterol efflux capacity from human THP-1 macrophages is reduced in HIV-infected patients: impact of HAART.
J Lipid Res
; 56(3): 692-702, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25573889
17.
Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A.
Am Heart J
; 169(4): 587-93, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25819867
18.
Hyperinsulinaemia and insulin signalling in the pathogenesis and the clinical course of hepatocellular carcinoma.
Liver Int
; 35(10): 2203-17, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123841
19.
Perilipin deficiency and autosomal dominant partial lipodystrophy.
N Engl J Med
; 364(8): 740-8, 2011 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21345103
20.
Inaccuracy of haemoglobin A1c among HIV-infected men: effects of CD4 cell count, antiretroviral therapies and haematological parameters.
J Antimicrob Chemother
; 69(12): 3360-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25096078