Detalhe da pesquisa
1.
SAF-A Regulates Interphase Chromosome Structure through Oligomerization with Chromatin-Associated RNAs.
Cell
; 169(7): 1214-1227.e18, 2017 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28622508
2.
HpARI Protein Secreted by a Helminth Parasite Suppresses Interleukin-33.
Immunity
; 47(4): 739-751.e5, 2017 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29045903
3.
Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability.
Genes Dev
; 30(19): 2173-2186, 2016 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27737961
4.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Am J Hum Genet
; 100(5): 706-724, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28413018
5.
Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling.
J Cell Sci
; 131(4)2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29361551
6.
A structural organization for the Disrupted in Schizophrenia 1 protein, identified by high-throughput screening, reveals distinctly folded regions, which are bisected by mental illness-related mutations.
J Biol Chem
; 292(16): 6468-6477, 2017 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28249940
7.
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
J Biol Chem
; 292(15): 6225-6239, 2017 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28209709
8.
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Hum Mutat
; 38(8): 942-946, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28493397
9.
Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.
Hum Mol Genet
; 24(11): 3286-95, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701875
10.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet
; 94(6): 915-23, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906020
11.
Specific Interaction between eEF1A and HIV RT Is Critical for HIV-1 Reverse Transcription and a Potential Anti-HIV Target.
PLoS Pathog
; 11(12): e1005289, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26624286
12.
DISC1 complexes with TRAK1 and Miro1 to modulate anterograde axonal mitochondrial trafficking.
Hum Mol Genet
; 23(4): 906-19, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24092329
13.
RPGR: Its role in photoreceptor physiology, human disease, and future therapies.
Exp Eye Res
; 138: 32-41, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26093275
14.
A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins.
Hum Mol Genet
; 21(15): 3374-86, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22547224
15.
The intermediate filament protein, vimentin, is a regulator of NOD2 activity.
Gut
; 62(5): 695-707, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22684479
16.
The mitosis and neurodevelopment proteins NDE1 and NDEL1 form dimers, tetramers, and polymers with a folded back structure in solution.
J Biol Chem
; 287(39): 32381-93, 2012 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-22843697
17.
PKA phosphorylation of NDE1 is DISC1/PDE4 dependent and modulates its interaction with LIS1 and NDEL1.
J Neurosci
; 31(24): 9043-54, 2011 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21677187
18.
A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression.
Am J Hum Genet
; 85(6): 833-46, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19944402
19.
The structure of the KlcA and ArdB proteins reveals a novel fold and antirestriction activity against Type I DNA restriction systems in vivo but not in vitro.
Nucleic Acids Res
; 38(5): 1723-37, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20007596
20.
In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence.
Physiol Genomics
; 42(3): 319-30, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20571110