Detalhe da pesquisa
1.
Toll-Like Receptor 3 Mediates Aortic Stenosis Through a Conserved Mechanism of Calcification.
Circulation
; 147(20): 1518-1533, 2023 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013819
2.
Natural history of Wolcott-Rallison syndrome: A systematic review and follow-up study.
Liver Int
; 44(3): 811-822, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38230874
3.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
J Inherit Metab Dis
; 47(2): 220-229, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375550
4.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
5.
Biogenesis of lysosome-related organelles complex-1 (BORC) regulates late endosomal/lysosomal size through PIKfyve-dependent phosphatidylinositol-3,5-bisphosphate.
Traffic
; 20(9): 674-696, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31314175
6.
The haemochromatosis gene Hfe and Kupffer cells control LDL cholesterol homeostasis and impact on atherosclerosis development.
Eur Heart J
; 41(40): 3949-3959, 2020 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227235
7.
Combining high-pressure freezing with pre-embedding immunogold electron microscopy and tomography.
Traffic
; 19(8): 639-649, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29673018
8.
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
Hum Genet
; 139(10): 1247-1259, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32306098
9.
Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease.
Traffic
; 18(7): 453-464, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407399
10.
Response to Kulseth.
Genet Med
; 26(3): 101040, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38226982
11.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272928
12.
An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking.
Proc Natl Acad Sci U S A
; 112(40): 12408-13, 2015 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26392529
13.
Ultrastructural Morphometry Points to a New Role for LAMTOR2 in Regulating the Endo/Lysosomal System.
Traffic
; 16(6): 617-34, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25677580
14.
Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.
Traffic
; 15(1): 22-42, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24138727
15.
Cryo-immunoelectron microscopy of adherent cells improved by the use of electrospun cell culture substrates.
Traffic
; 14(8): 886-94, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23631675
16.
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Gastroenterology
; 147(1): 65-68.e10, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726755
17.
Interleukin-like epithelial-to-mesenchymal transition inducer activity is controlled by proteolytic processing and plasminogen-urokinase plasminogen activator receptor system-regulated secretion during breast cancer progression.
Breast Cancer Res
; 16(5): 433, 2014 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25212966
18.
The phospholipid flippase ATP8B1 is involved in the pathogenesis of Ulcerative Colitis via establishment of intestinal barrier function.
J Crohns Colitis
; 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38366839
19.
A CRISPR screen in intestinal epithelial cells identifies novel factors for polarity and apical transport.
Elife
; 122023 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36661306
20.
The influence of liver transplantation on the interplay between gut microbiome and bile acid homeostasis in children with biliary atresia.
Hepatol Commun
; 7(6)2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37184522