Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
Rett Syndrome
|
|
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 |
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
Together, these findings demonstrate that increasing MeCP2 T158M protein expression is sufficient to mitigate RTT-like phenotypes and support the targeting of MeCP2 T158M expression or stability as an alternative therapeutic approach.
|
28394263 |
2017 |
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
Lower doses of this vector significantly extended the survival of mice lacking MeCP2 or expressing a mutant T158M allele but had no impact on RTT-like neurological phenotypes.
|
28497075 |
2017 |
Rett Syndrome
|
|
0.900 |
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice.
|
26647311 |
2016 |
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Molecular diagnostic dilemmas in Rett syndrome.
|
22277191 |
2012 |
Rett Syndrome
|
|
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 |
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
One of the most common MeCP2 mutations associated with RTT occurs at threonine 158, converting it to methionine (T158M) or alanine (T158A).
|
22119903 |
2011 |
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation.
|
21420494 |
2011 |
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
|
20116947 |
2011 |
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
|
21160487 |
2011 |
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.
|
20631224 |
2010 |
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Epilepsy and the natural history of Rett syndrome.
|
20231667 |
2010 |
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.
|
20661168 |
2010 |
Rett Syndrome
|
|
0.900 |
CausalMutation
|
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
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 |
Rett Syndrome
|
|
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 |
Rett Syndrome
|
|
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 |
Rett Syndrome
|
|
0.900 |
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
|
|
0.900 |
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 |
Rett Syndrome
|
|
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 |