Detalhe da pesquisa
1.
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
Mol Psychiatry
; 26(10): 5766-5788, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32647257
2.
Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
Mol Psychiatry
; 26(10): 5789, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272490
3.
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.
Stem Cells
; 33(6): 2077-84, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25694335
4.
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.
Blood
; 122(4): 554-61, 2013 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23733339
5.
Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.
EBioMedicine
; 94: 104692, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451904
6.
Amplified segment in the 'Down syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2.
Br J Haematol
; 157(2): 197-200, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22221250
7.
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.
Am J Hum Genet
; 83(3): 388-400, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18771760
8.
Quantitative proteomics characterization of a mouse embryonic stem cell model of Down syndrome.
Mol Cell Proteomics
; 8(4): 585-95, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19001410
9.
RAS-protein activation but not mutation status is an outcome predictor and unifying therapeutic target for high-risk acute lymphoblastic leukemia.
Oncogene
; 40(4): 746-762, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247204
10.
Modeling Down syndrome in cells: From stem cells to organoids.
Prog Brain Res
; 251: 55-90, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32057312
11.
Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix.
Proteome Sci
; 7: 31, 2009 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19715584
12.
Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome.
Alzheimers Res Ther
; 10(1): 39, 2018 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29631614
13.
Intracerebral haemorrhage in Down syndrome: protected or predisposed?
F1000Res
; 52016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27239286
14.
The importance of understanding individual differences in Down syndrome.
F1000Res
; 52016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27019699
15.
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.
Nat Commun
; 5: 4654, 2014 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25105841
16.
Tumorigenesis in Down's syndrome: big lessons from a small chromosome.
Nat Rev Cancer
; 12(10): 721-32, 2012 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22996602
17.
Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.
Br J Haematol
; 137(4): 337-41, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17456055
18.
Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder.
Lancet
; 361(9369): 1617-20, 2003 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-12747884
19.
Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker.
Br J Haematol
; 125(6): 729-42, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15180862
20.
Independent clones at separable stages of differentiation, bearing different GATA1 mutations, in the same TMD patient with Down syndrome.
Blood
; 106(5): 1887-8, 2005 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16113234