rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular diagnostic dilemmas in Rett syndrome.
|
22277191 |
2012 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
|
21160487 |
2011 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
|
20116947 |
2011 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation.
|
21420494 |
2011 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Epilepsy and the natural history of Rett syndrome.
|
20231667 |
2010 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.
|
20661168 |
2010 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.
|
20631224 |
2010 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length.
|
19217433 |
2009 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.
|
19442733 |
2009 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Although more than 200 different MECP2 mutations have been identified throughout the gene, 7 of those (p.R133C, p.T158M, p.R168X, p.R255X, p.R270X, p.R294X, and p.R306C) account for up to two-thirds of pathogenic mutations in RTT patients.
|
19309269 |
2009 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The spectrum of MECP2 mutations within the mainland Chinese RTT patients is similar to that of those patients reported in the world. p.T158M, p.R168X, c.806delG, p.R255X, p.R270X, p.R133C, p.R306C, and p.R106W are the hotspot mutations of MECP2 and c.806delG is a specific hotspot mutation in Chinese patients with RTT.
|
19552836 |
2009 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
There are relationships between MECP2 genotype and phenotype:the RTT patients with nonsense mutations located in MBD tend to develop more severe phenotype;there are significant differences in language skill and language impairment rate in the groups with p.T158M, p.R168X, c.806del and p.R255X, which had higher frequency in children below five-years of age and the p.R168X present with most severe impairment.
|
19573459 |
2009 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
|
18989701 |
2009 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course.
|
19133691 |
2009 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.
|
18499664 |
2008 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Rett syndrome: North American database.
|
18174548 |
2007 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
|
17089071 |
2007 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
|
17296936 |
2007 |