Detalhe da pesquisa
1.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Cell
; 187(2): 390-408.e23, 2024 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38157855
2.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nat Immunol
; 25(5): 764-777, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609546
3.
Transcription induces context-dependent remodeling of chromatin architecture during differentiation.
PLoS Biol
; 21(12): e3002424, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38048351
4.
Blood flow diverts extracellular vesicles from endothelial degradative compartments to promote angiogenesis.
EMBO Rep
; 24(12): e57042, 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37971863
5.
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.
Genes Immun
; 24(4): 207-214, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516813
6.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol
; 256: 109777, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741518
7.
Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.
Scand J Immunol
; 97(5): e13264, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37368332
8.
Clinical and immunological characteristics of 69 leukocyte adhesion deficiency-I patients.
Pediatr Allergy Immunol
; 34(7): e13990, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37492921
9.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
10.
A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
Mov Disord
; 37(2): 365-374, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34820905
11.
A FcɣRIIa polymorphism has a HLA-B57 and HLA-B27 independent effect on HIV disease outcome.
Genes Immun
; 21(4): 263-268, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32759994
12.
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
BMC Med Genet
; 21(1): 182, 2020 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32943010
13.
Extensive nuclear reprogramming and endoreduplication in mature leaf during floral induction.
BMC Plant Biol
; 19(1): 135, 2019 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30971226
14.
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.
J Hum Genet
; 64(7): 689-694, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31068678
15.
The Arabidopsis hnRNP-Q Protein LIF2 and the PRC1 Subunit LHP1 Function in Concert to Regulate the Transcription of Stress-Responsive Genes.
Plant Cell
; 28(9): 2197-2211, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27495811
16.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
17.
Where does transcription start? 5'-RACE adapted to next-generation sequencing.
Nucleic Acids Res
; 44(6): 2628-45, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615195
18.
Arabidopsis AL PHD-PRC1 complexes promote seed germination through H3K4me3-to-H3K27me3 chromatin state switch in repression of seed developmental genes.
PLoS Genet
; 10(1): e1004091, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24465219
19.
Arabidopsis PRC1 core component AtRING1 regulates stem cell-determining carpel development mainly through repression of class I KNOX genes.
BMC Biol
; 14(1): 112, 2016 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007029
20.
Measuring the transcriptome-wide effects of aging on murine adipocytes using RNAseq.
STAR Protoc
; 4(3): 102397, 2023 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37393615