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1.
iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells.
Pediatr Int
; 64(1): e15390, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36259166
2.
Deterioration of phagocytosis in induced pluripotent stem cell-derived retinal pigment epithelial cells established from patients with retinitis pigmentosa carrying Mer tyrosine kinase mutations.
Exp Eye Res
; 205: 108503, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33609509
3.
Investigation of the molecular causes underlying physical abnormalities in Diamond-Blackfan anemia patients with RPL5 haploinsufficiency.
Pathol Int
; 71(12): 803-813, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34587661
4.
Reduction of lipid accumulation rescues Bietti's crystalline dystrophy phenotypes.
Proc Natl Acad Sci U S A
; 115(15): 3936-3941, 2018 04 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29581279
5.
BMP-SMAD-ID promotes reprogramming to pluripotency by inhibiting p16/INK4A-dependent senescence.
Proc Natl Acad Sci U S A
; 113(46): 13057-13062, 2016 11 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27794120
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28587749
7.
Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors.
Biochem Biophys Res Commun
; 497(2): 719-725, 2018 03 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29462620
8.
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency.
Biochem Biophys Res Commun
; 448(2): 175-81, 2014 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-24780397
9.
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery.
Blood
; 120(6): 1299-308, 2012 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-22723549
10.
Secondary Publication: Proposal for Points of Consideration for Pluripotent Stem Cell Culture.
In Vitro Cell Dev Biol Anim
; 60(5): 563-568, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38472720
11.
The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.
Biochem Biophys Res Commun
; 439(4): 419-26, 2013 Oct 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-23994138
12.
Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients.
Biochem Biophys Res Commun
; 438(1): 13-9, 2013 Aug 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-23850618
13.
A disease-specific iPS cell resource for studying rare and intractable diseases.
Inflamm Regen
; 43(1): 43, 2023 Sep 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37684663
14.
Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations.
Stem Cell Res
; 53: 102337, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33901816
15.
In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids.
Stem Cell Reports
; 12(3): 431-440, 2019 03 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30773483
16.
Pluripotent Stem Cell Model of Nakajo-Nishimura Syndrome Untangles Proinflammatory Pathways Mediated by Oxidative Stress.
Stem Cell Reports
; 10(6): 1835-1850, 2018 06 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29731430
17.
Insulin-producing cells derived from 'induced pluripotent stem cells' of patients with fulminant type 1 diabetes: Vulnerability to cytokine insults and increased expression of apoptosis-related genes.
J Diabetes Investig
; 2017 Aug 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28796422
18.
Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.
Arthritis Rheumatol
; 69(2): 447-459, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27788288
19.
Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.
Metabolism
; 65(4): 543-56, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26975546
20.
Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.
Sci Rep
; 6: 30013, 2016 07 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27418197