Detalhe da pesquisa
1.
The Ftx Noncoding Locus Controls X Chromosome Inactivation Independently of Its RNA Products.
Mol Cell
; 70(3): 462-472.e8, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706539
2.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
Hum Genet
; 142(3): 379-397, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36538041
3.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Genet Med
; 25(2): 100323, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401616
4.
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Clin Genet
; 102(5): 444-450, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908151
5.
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.
Mov Disord
; 38(3): 502-504, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36781603
6.
Ftx is a non-coding RNA which affects Xist expression and chromatin structure within the X-inactivation center region.
Hum Mol Genet
; 20(4): 705-18, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21118898
7.
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Mol Genet Genomic Med
; 11(12): e2256, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592902
8.
Energy biogenesis: one key for coordinating two genomes.
Trends Genet
; 21(1): 12-6, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15680507
9.
Tagging genes with cassette-exchange sites.
Nucleic Acids Res
; 33(4): e44, 2005 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15741177
10.
Pluripotent Stem Cells: Current Understanding and Future Directions.
Stem Cells Int
; 2016: 9451492, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26798367
11.
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications.
Stem Cell Res
; 12(2): 323-37, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24365598
12.
Origin and evolution of the long non-coding genes in the X-inactivation center.
Biochimie
; 93(11): 1935-42, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21820484
13.
Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2.
PLoS One
; 5(2): e9029, 2010 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-20140255
14.
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.
Genome Biol
; 11(6): R64, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20569505