Detalhe da pesquisa
1.
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.
Hum Mol Genet
; 26(15): 2975-2983, 2017 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28486698
2.
Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus.
Circulation
; 136(5): 476-489, 2017 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28487391
3.
Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.
Am J Med Genet A
; 173(5): 1400-1405, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28371070
4.
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
J Med Genet
; 52(12): 797-803, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26424145
5.
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Biochim Biophys Acta
; 1839(11): 1196-204, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25088175
6.
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.
Cerebellum
; 17(4): 504-506, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29497979
7.
Allele-specific transcription factor binding in a cellular model of orofacial clefting.
Sci Rep
; 12(1): 1807, 2022 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35110662
8.
LAMP-Seq enables sensitive, multiplexed COVID-19 diagnostics using molecular barcoding.
Nat Biotechnol
; 39(12): 1556-1562, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34188222
9.
HACE1 deficiency leads to structural and functional neurodevelopmental defects.
Neurol Genet
; 5(3): e330, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-31321300
10.
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
J Mol Neurosci
; 62(1): 11-16, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28299530
11.
Author Correction: LAMP-Seq enables sensitive, multiplexed COVID-19 diagnostics using molecular barcoding.
Nat Biotechnol
; 40(8): 1295, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-35851378
12.
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
Inglês
| MEDLINE | ID: mdl-24486772