Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
2.
Influenza A virus exploits transferrin receptor recycling to enter host cells.
Proc Natl Acad Sci U S A
; 120(21): e2214936120, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37192162
3.
Actin assembly requirements of the formin Fus1 to build the fusion focus.
J Cell Sci
; 135(13)2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35673994
4.
Influenza A viruses balance ER stress with host protein synthesis shutoff.
Proc Natl Acad Sci U S A
; 118(36)2021 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34479996
5.
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Hum Mol Genet
; 31(1): 1-9, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693784
6.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
7.
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Clin Genet
; 104(3): 324-333, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317634
8.
Allosteric activation of MALT1 by its ubiquitin-binding Ig3 domain.
Proc Natl Acad Sci U S A
; 117(6): 3093-3102, 2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980531
9.
Biallelic variants in PSMB1 encoding the proteasome subunit ß6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Hum Mol Genet
; 29(7): 1132-1143, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129449
10.
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Hum Mol Genet
; 29(4): 618-623, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31903486
11.
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Am J Hum Genet
; 104(6): 1073-1087, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079899
12.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
13.
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Hum Mol Genet
; 28(6): 972-979, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30481285
14.
Disulfide-Linked Peptides for Blocking BTLA/HVEM Binding.
Int J Mol Sci
; 21(2)2020 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31963646
15.
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Genet Med
; 20(7): 778-784, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837161
16.
Activating mutations in genes related to TCR signaling in angioimmunoblastic and other follicular helper T-cell-derived lymphomas.
Blood
; 128(11): 1490-502, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27369867
17.
Design and Validation of a Novel Generic Platform for the Production of Tetravalent IgG1-like Bispecific Antibodies.
J Immunol
; 196(7): 3199-211, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26921308
18.
The V-ATPase proteolipid cylinder promotes the lipid-mixing stage of SNARE-dependent fusion of yeast vacuoles.
EMBO J
; 30(20): 4126-41, 2011 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21934648
19.
The CAP1/Prss8 catalytic triad is not involved in PAR2 activation and protease nexin-1 (PN-1) inhibition.
FASEB J
; 28(11): 4792-805, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138159
20.
Mutations of the serine protease CAP1/Prss8 lead to reduced embryonic viability, skin defects, and decreased ENaC activity.
Am J Pathol
; 181(2): 605-15, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22705055