|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
MECP2 mutations account for most cases of typical forms of Rett syndrome.
|
10814719 |
2000 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
|
12966523 |
2003 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Prenatal diagnosis in Rett syndrome.
|
12065946 |
2003 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
|
12966523 |
2003 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
|
15057977 |
2004 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
|
11241840 |
2001 |
|
rs28934906
|
|
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
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)].
|
11402105 |
2001 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation.
|
21420494 |
2011 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To facilitate the study of cellular mechanisms in human cells, we established several human stem cell lines: human embryonic stem cell (hESC) line carrying the common T158M mutation (<i>MECP2<sup>T158M/T158M</sup></i> ), hESC line expressing no MECP2 (<i>MECP2-KO</i>), congenic pair of wild-type and mutant RTT patient-specific induced pluripotent stem cell (iPSC) line carrying the V247fs mutation (V247fs-WT and V247fs-MT), and iPSC line in which the V247fs mutation was corrected by CRISPR/Cas9-based genome editing (V247fs-MT-correction).
|
28270572 |
2017 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
|
18989701 |
2009 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
|
20116947 |
2011 |
|
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutation screening in Rett syndrome patients.
|
10745042 |
2000 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X).
|
23035069 |
2012 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
|
17296936 |
2007 |
|
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
|
12966522 |
2003 |
|
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
|
16183801 |
2006 |
|
rs28934906
|
|
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
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
|
10944854 |
2000 |
|
rs28934906
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |