Detalhe da pesquisa
1.
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
Hum Mol Genet
; 27(18): 3177-3188, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29893856
2.
MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.
Hum Mol Genet
; 26(21): 4132-4141, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973632
3.
MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.
Hum Mutat
; 39(5): 717-728, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29431277
4.
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Hum Mol Genet
; 24(11): 3172-80, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701870
5.
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
Hum Genet
; 133(11): 1419-29, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25098561
6.
Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations.
Transl Psychiatry
; 12(1): 450, 2022 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253345
7.
Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization.
Genes (Basel)
; 13(1)2021 12 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052391
8.
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
Transl Psychiatry
; 11(1): 1, 2021 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414379
9.
MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2.
Epigenetics Chromatin
; 12(1): 63, 2019 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31601272
10.
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.
Sci Rep
; 6: 38590, 2016 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27929079
11.
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.
Orphanet J Rare Dis
; 8: 108, 2013 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-23866855
12.
Expression of EBV encoded viral RNA 1, 2 and anti-inflammatory cytokine (interleukin-10) in FFPE lymphoma specimens: a preliminary study for diagnostic implication in Pakistan.
Diagn Pathol
; 6: 70, 2011 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-21791113