Detalhe da pesquisa
1.
The unfolded-protein-response sensor IRE-1α regulates the function of CD8α+ dendritic cells.
Nat Immunol
; 15(3): 248-57, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24441789
2.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am J Hum Genet
; 109(12): 2230-2252, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351433
3.
KIL1 terminates fertility in maize by controlling silk senescence.
Plant Cell
; 34(8): 2852-2870, 2022 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35608197
4.
Selective Replacement of Cholesterol with Cationic Amphiphilic Drugs Enables the Design of Lipid Nanoparticles with Improved RNA Delivery.
Nano Lett
; 24(10): 2961-2971, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38477058
5.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(6): 1095-1114, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991472
6.
Knockout of RSN1, TVP18 or CSC1-2 causes perturbation of Golgi cisternae in Pichia pastoris.
Traffic
; 22(3): 48-63, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33263222
7.
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.
Hum Mol Genet
; 28(4): 615-627, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30339187
8.
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
Hum Mol Genet
; 28(11): 1853-1864, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668708
9.
Cellular requirements for PIN polar cargo clustering in Arabidopsis thaliana.
New Phytol
; 229(1): 351-369, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32810889
10.
The Inhibitor Endosidin 4 Targets SEC7 Domain-Type ARF GTPase Exchange Factors and Interferes with Subcellular Trafficking in Eukaryotes.
Plant Cell
; 30(10): 2553-2572, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30018156
11.
A Spatiotemporal DNA Endoploidy Map of the Arabidopsis Root Reveals Roles for the Endocycle in Root Development and Stress Adaptation.
Plant Cell
; 30(10): 2330-2351, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30115738
12.
Nonselective Chemical Inhibition of Sec7 Domain-Containing ARF GTPase Exchange Factors.
Plant Cell
; 30(10): 2573-2593, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30018157
13.
Disruption of endocytosis through chemical inhibition of clathrin heavy chain function.
Nat Chem Biol
; 15(6): 641-649, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31011214
14.
Layer by Layer Assembled Chitosan-Coated Gold Nanoparticles for Enhanced siRNA Delivery and Silencing.
Int J Mol Sci
; 22(2)2021 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33467656
15.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
; 41(5): 998-1011, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999394
16.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Hum Mol Genet
; 27(20): 3475-3487, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931299
17.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 100(2): 216-227, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065471
18.
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.
Genet Med
; 22(1): 112-123, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273343
19.
Polyploidy Affects Plant Growth and Alters Cell Wall Composition.
Plant Physiol
; 179(1): 74-87, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30301776
20.
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Clin Genet
; 97(3): 426-436, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721179