Detalhe da pesquisa
1.
Allosteric inhibition of the IRE1α RNase preserves cell viability and function during endoplasmic reticulum stress.
Cell
; 158(3): 534-48, 2014 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25018104
2.
Tracking the role of Aire in immune tolerance to the eye with a TCR transgenic mouse model.
Proc Natl Acad Sci U S A
; 121(5): e2311487121, 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38261611
3.
Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome.
Proc Natl Acad Sci U S A
; 120(5): e2217327120, 2023 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36693102
4.
PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
Proc Natl Acad Sci U S A
; 120(35): e2306479120, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37607233
5.
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
PLoS Genet
; 17(2): e1009339, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33524049
6.
Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).
J Biol Chem
; 298(12): 102713, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403858
7.
Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.
Int J Mol Sci
; 24(20)2023 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37894834
8.
Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
J Biol Chem
; 296: 100453, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631195
9.
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Am J Hum Genet
; 104(5): 847-860, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051113
10.
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
Prenat Diagn
; 42(5): 601-610, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150448
11.
Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.
Hum Mol Genet
; 26(18): 3630-3638, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28911203
12.
Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.
BMC Biol
; 14: 59, 2016 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412481
13.
Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.
Circulation
; 131(18): 1555-65, 2015 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25753534
14.
Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
Hum Mol Genet
; 23(7): 1709-22, 2014 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24203695
15.
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Am J Hum Genet
; 90(1): 91-101, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22209247
16.
Spontaneous development of autoimmune uveitis Is CCR2 dependent.
Am J Pathol
; 184(6): 1695-705, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24736166
17.
Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.
Curr Top Membr
; 76: 61-116, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26610912
18.
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Hum Mol Genet
; 21(R1): R97-110, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22914737
19.
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
PLoS Genet
; 7(5): e1002062, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21625620
20.
Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.
Cells Dev
; : 203926, 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38729574