Detalhe da pesquisa
1.
Recapitulating the human segmentation clock with pluripotent stem cells.
Nature
; 580(7801): 124-129, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32238941
2.
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.
Hum Mol Genet
; 32(10): 1683-1697, 2023 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645181
3.
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Blood
; 141(6): 645-658, 2023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36223592
4.
Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.
Hum Mol Genet
; 31(21): 3652-3671, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388883
5.
UK-5099, a mitochondrial pyruvate carrier inhibitor, recovers impaired neutrophil maturation caused by AK2 deficiency in human pluripotent stem cell models.
Biochem Biophys Res Commun
; 687: 149211, 2023 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37949028
6.
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
Blood
; 137(15): 2021-2032, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512438
7.
Anti-TNF treatment corrects IFN-γ-dependent proinflammatory signatures in Blau syndrome patient-derived macrophages.
J Allergy Clin Immunol
; 149(1): 176-188.e7, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34175136
8.
iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells.
Pediatr Int
; 64(1): e15390, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36259166
9.
Investigation of the molecular causes underlying physical abnormalities in Diamond-Blackfan anemia patients with RPL5 haploinsufficiency.
Pathol Int
; 71(12): 803-813, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587661
10.
Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.
Ann Rheum Dis
; 79(11): 1492-1499, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32647028
11.
Biomimetic aorta-gonad-Mesonephros-on-a-Chip to study human developmental hematopoiesis.
Biomed Microdevices
; 22(2): 34, 2020 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32377802
12.
Induction of human pluripotent stem cell-derived natural killer cells for immunotherapy under chemically defined conditions.
Biochem Biophys Res Commun
; 515(1): 1-8, 2019 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30948156
13.
Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model.
J Hum Genet
; 64(5): 445-458, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30846821
14.
Pluripotent stem cell models of Blau syndrome reveal an IFN-γ-dependent inflammatory response in macrophages.
J Allergy Clin Immunol
; 141(1): 339-349.e11, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28587749
15.
Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors.
Biochem Biophys Res Commun
; 497(2): 719-725, 2018 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29462620
16.
Lysosomal membrane permeabilization causes secretion of IL-1ß in human vascular smooth muscle cells.
Inflamm Res
; 67(10): 879-889, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30136196
17.
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.
J Hum Genet
; 61(6): 565-9, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841829
18.
Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation.
Haematologica
; 106(2): 635-640, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32354872
19.
Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.
Epilepsia
; 57(4): e81-6, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26918652
20.
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
Ann Rheum Dis
; 74(3): 603-10, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24326009