Detalhe da pesquisa
1.
Human induced pluripotent stem cell line with genetically encoded fluorescent voltage indicator generated via CRISPR for action potential assessment post-cardiogenesis.
Stem Cells
; 38(1): 90-101, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31566285
2.
CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.
Hum Mol Genet
; 23(12): 3228-38, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24463622
3.
Differential increases of specific FMR1 mRNA isoforms in premutation carriers.
J Med Genet
; 52(1): 42-52, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25358671
4.
Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR.
Clin Chem
; 61(1): 182-90, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388430
5.
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.
Am J Med Genet A
; 167A(9): 2154-61, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25920745
6.
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.
J Med Genet
; 51(5): 309-18, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24591415
7.
Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion.
J Biol Chem
; 288(19): 13831-41, 2013 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23553633
8.
High MMP-9 activity levels in fragile X syndrome are lowered by minocycline.
Am J Med Genet A
; 161A(8): 1897-903, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23824974
9.
The sinoatrial node extracellular matrix promotes pacemaker phenotype and protects automaticity in engineered heart tissues from cyclic strain.
Cell Rep
; 42(12): 113505, 2023 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041810
10.
Structural dynamics and single-stranded DNA binding activity of the three N-terminal domains of the large subunit of replication protein A from small angle X-ray scattering.
Biochemistry
; 49(13): 2880-9, 2010 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-20184389
11.
Replication protein A stimulates the Werner syndrome protein branch migration activity.
J Biol Chem
; 284(50): 34682-91, 2009 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-19812417
12.
NODAL inhibition promotes differentiation of pacemaker-like cardiomyocytes from human induced pluripotent stem cells.
Stem Cell Res
; 49: 102043, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128951
13.
NMR analysis of the architecture and functional remodeling of a modular multidomain protein, RPA.
J Am Chem Soc
; 131(18): 6346-7, 2009 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-19378948
14.
Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome.
Brain Dev
; 39(6): 483-492, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28242040
15.
Clinical and molecular implications of mosaicism in FMR1 full mutations.
Front Genet
; 5: 318, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25278957
16.
Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.
Neurobiol Aging
; 35(5): 1189-97, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24332449
17.
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome.
J Neurodev Disord
; 6(1): 25, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25136376
18.
Intranuclear inclusions in a fragile X mosaic male.
Transl Neurodegener
; 2(1): 10, 2013 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692864
19.
Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease.
Genomics
; 80(2): 195-203, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12160733