Detalhe da pesquisa
1.
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.
PLoS Genet;
13(12): e1007137, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29261648
2.
Dysfunctional nitric oxide signalling increases risk of myocardial infarction.
Nature;
504(7480): 432-6, 2013 Dec 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24213632
3.
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Hum Genet;
136(3): 307-320, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28120103
4.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Hum Mol Genet;
23(11): 2888-900, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24403048
5.
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.
Hum Mutat;
36(1): 26-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25196272
6.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat;
36(4): 454-62, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25655089
7.
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Biochim Biophys Acta;
1839(11): 1196-204, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25088175
8.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Hum Genet;
134(6): 553-68, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25724810
9.
RAD21 mutations cause a human cohesinopathy.
Am J Hum Genet;
90(6): 1014-27, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22633399
10.
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
Int J Mol Sci;
15(6): 10350-64, 2014 Jun 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24918291
11.
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Ann Neurol;
68(4): 554-9, 2010 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20976771
12.
Applicability of liquid biopsies to represent the mutational profile of tumor tissue from different cancer entities.
Oncogene;
40(33): 5204-5212, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34230613
13.
Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3.
Dev Biol;
328(1): 40-53, 2009 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19389374
14.
Preclinical models of head and neck squamous cell carcinoma for a basic understanding of cancer biology and its translation into efficient therapies.
Cancers Head Neck;
5: 9, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32714605
15.
Truncating mutations in THAP1 define the nuclear localization signal.
Mov Disord;
26(8): 1565-7, 2011 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21495072
16.
Spheroid Culture of Head and Neck Cancer Cells Reveals an Important Role of EGFR Signalling in Anchorage Independent Survival.
PLoS One;
11(9): e0163149, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27643613
17.
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Biomed Res Int;
2016: 8742939, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26925417
18.
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Eur J Med Genet;
57(5): 207-11, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24486772
19.
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Eur J Hum Genet;
20(3): 271-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21934712