|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Here, we investigated plasma acute phase response (APR) in stage II (i.e., "pseudo-autistic") RTT patients by routine haematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses as a function of four major MECP2 gene mutation types (R306C, T158M, R168X, and large deletions).
|
24511209 |
2014 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
|
24399845 |
2014 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
We have generated a knockin mouse model for translational research that carries the most common nonsense mutation in Rett syndrome, R168X.
|
25541993 |
2014 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Here we characterized respiration in heterozygous females from two mouse models that genetically mimic common RTT point mutations, a missense mutation T158A (Mecp2(T158A/)(+)) or a nonsense mutation R168X (Mecp2(R168X/+)).
|
24626160 |
2014 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
MeCP2 deficiency is associated with impaired microtubule stability.
|
23238081 |
2013 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
|
21982064 |
2012 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
|
21160487 |
2011 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
We performed comparative study of suppression effects of the novel NB54 and gentamicin on three MECP2 nonsense mutations (R294X, R270X and R168X) common in RTT, using ex vivo treatment of primary fibroblasts from RTT patients harboring these mutations and testing for the C-terminal containing full-length MeCP2.
|
21695138 |
2011 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Multiple de novo mutations in the MECP2 gene.
|
18652533 |
2008 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo.
|
18334558 |
2008 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
|
17387578 |
2007 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
|
16473305 |
2006 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
People with MECP2 mutation-positive Rett disorder who converse.
|
16629931 |
2006 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
|
16183801 |
2006 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
p.R270X MECP2 mutation and mortality in Rett syndrome.
|
16077729 |
2005 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
|
15057977 |
2004 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.
|
15173251 |
2004 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.
|
15526954 |
2004 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome.
|
12872251 |
2003 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
A truncated form of MeCP2 (R168X) found in patients with Rett syndrome cannot interact with the SMRT complex or fully activate xHairy2a during primary neurogenesis.
|
14536082 |
2003 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.
|
12746405 |
2003 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
|
12872250 |
2003 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.
|
12325033 |
2002 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Spectrum of MECP2 mutations in Rett syndrome.
|
12180070 |
2002 |
|
rs61748421
|
|
Rett Syndrome
|
A |
0.740 |
CausalMutation
|
CLINVAR |
Parental origin of de novo MECP2 mutations in Rett syndrome.
|
11313764 |
2001 |