Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
BEFREE |
Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons.
|
28920956 |
2017 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
BEFREE |
Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism.
|
20098342 |
2010 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
CLINVAR |
Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism.
|
20098342 |
2010 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
BEFREE |
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 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
CLINVAR |
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
|
18337588 |
2008 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
BEFREE |
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 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
|
17296936 |
2007 |
Rett Syndrome
|
|
0.840 |
CausalMutation
|
CLINVAR |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
|
17387578 |
2007 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
|
12966522 |
2003 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
|
12966523 |
2003 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
|
11269512 |
2001 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
|
11376998 |
2001 |
Rett Syndrome
|
|
0.840 |
CausalMutation
|
CLINVAR |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
|
11269512 |
2001 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
|
11738883 |
2001 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.
|
11706982 |
2001 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.
|
11283202 |
2001 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
MeCP2 mutations in children with and without the phenotype of Rett syndrome.
|
11402105 |
2001 |
Rett Syndrome
|
|
0.840 |
CausalMutation
|
CLINVAR |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
|
10767337 |
2000 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
|
11055898 |
2000 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
Rett Syndrome
|
|
0.840 |
GeneticVariation
|
UNIPROT |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
|
10767337 |
2000 |