Detalhe da pesquisa
1.
The trans-activator RNF12 and cis-acting elements effectuate X chromosome inactivation independent of X-pairing.
Mol Cell
; 53(6): 965-78, 2014 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-24613346
2.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31820119
3.
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.
Mol Psychiatry
; 24(5): 757-771, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29302076
4.
Trichothiodystrophy causative TFIIEß mutation affects transcription in highly differentiated tissue.
Hum Mol Genet
; 26(23): 4689-4698, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973399
5.
RNF12 activates Xist and is essential for X chromosome inactivation.
PLoS Genet
; 7(1): e1002001, 2011 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-21298085
6.
A Simple Nonviral Method to Generate Human Induced Pluripotent Stem Cells Using SMAR DNA Vectors.
Genes (Basel)
; 15(5)2024 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790204
7.
Orthogonal analysis of mitochondrial function in Parkinson's disease patients.
Cell Death Dis
; 15(4): 243, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570521
8.
Functional dissection of the Oct6 Schwann cell enhancer reveals an essential role for dimeric Sox10 binding.
J Neurosci
; 31(23): 8585-94, 2011 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21653862
9.
PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.
Blood Adv
; 5(3): 775-786, 2021 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33560392
10.
Modeling Rett Syndrome With Human Patient-Specific Forebrain Organoids.
Front Cell Dev Biol
; 8: 610427, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33363173
11.
Malignant Transformation Involving CXXC4 Mutations Identified in a Leukemic Progression Model of Severe Congenital Neutropenia.
Cell Rep Med
; 1(5): 100074, 2020 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33205068
12.
Cystic renal-epithelial derived induced pluripotent stem cells from polycystic kidney disease patients.
Stem Cells Transl Med
; 9(4): 478-490, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32163234
13.
Differential contributions of mammalian Rad54 paralogs to recombination, DNA damage repair, and meiosis.
Mol Cell Biol
; 26(3): 976-89, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16428451
14.
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study.
Lancet Neurol
; 17(7): 597-608, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29887161
15.
Stable X chromosome reactivation in female human induced pluripotent stem cells.
Stem Cell Reports
; 4(2): 199-208, 2015 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25640760
16.
Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells.
Biotechnol J
; 10(10): 1578-88, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123315
17.
Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.
Stem Cell Reports
; 3(4): 548-55, 2014 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25358783
18.
Cancer stemness in Apc- vs. Apc/KRAS-driven intestinal tumorigenesis.
PLoS One
; 8(9): e73872, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24069241
19.
Canonical wnt signaling regulates hematopoiesis in a dosage-dependent fashion.
Cell Stem Cell
; 9(4): 345-56, 2011 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21982234
20.
The POU proteins Brn-2 and Oct-6 share important functions in Schwann cell development.
Genes Dev
; 17(11): 1380-91, 2003 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12782656