Detalhe da pesquisa
1.
ß2-microglobulin functions as an endogenous NMDAR antagonist to impair synaptic function.
Cell
; 186(5): 1026-1038.e20, 2023 03 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36868208
2.
Interferons in Down syndrome: When more is less.
Immunity
; 55(11): 1967-1969, 2022 11 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36351368
3.
Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndrome.
Immunity
; 55(11): 2074-2084.e5, 2022 11 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36243008
4.
Autoimmunity in Down's syndrome via cytokines, CD4 T cells and CD11c+ B cells.
Nature
; 615(7951): 305-314, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36813963
5.
Generation of functional oocytes from male mice in vitro.
Nature
; 615(7954): 900-906, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36922585
6.
Chromatin plasticity eXISTs in differentiated cells.
Nat Rev Mol Cell Biol
; 21(3): 120-121, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32001808
7.
Blood and immune development in human fetal bone marrow and Down syndrome.
Nature
; 598(7880): 327-331, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34588693
8.
Consequences of trisomy syndromes - 21 and beyond.
Trends Genet
; 39(3): 172-174, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36496311
9.
Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes.
Development
; 150(8)2023 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-37102702
10.
DSCAM gene triplication causes excessive GABAergic synapses in the neocortex in Down syndrome mouse models.
PLoS Biol
; 21(4): e3002078, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37079499
11.
A systematic CRISPR screen reveals redundant and specific roles for Dscam1 isoform diversity in neuronal wiring.
PLoS Biol
; 21(7): e3002197, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37410725
12.
Aneuploidy effects on human gene expression across three cell types.
Proc Natl Acad Sci U S A
; 120(21): e2218478120, 2023 05 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37192167
13.
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome.
Hum Mol Genet
; 32(13): 2205-2218, 2023 06 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37014740
14.
Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension.
Hum Mol Genet
; 33(1): 78-90, 2023 Dec 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37792788
15.
Prenatal and Postnatal Pharmacotherapy in Down Syndrome: The Search to Prevent or Ameliorate Neurodevelopmental and Neurodegenerative Disorders.
Annu Rev Pharmacol Toxicol
; 62: 211-233, 2022 01 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34990205
16.
A new Down syndrome rat model races forward.
Trends Genet
; 38(11): 1101-1102, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35581033
17.
Consequences of chromosome gain: A new view on trisomy syndromes.
Am J Hum Genet
; 109(12): 2126-2140, 2022 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36459979
18.
A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features.
Am J Hum Genet
; 109(2): 328-344, 2022 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35077668
19.
Genomic landscape of Down syndrome-associated acute lymphoblastic leukemia.
Blood
; 142(2): 172-184, 2023 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37001051
20.
RUNX1 isoform disequilibrium promotes the development of trisomy 21-associated myeloid leukemia.
Blood
; 141(10): 1105-1118, 2023 03 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36493345