|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Abnormalities of methyl CpG-binding protein 2 (Mecp2) cause neurological disorders with metabolic dysfunction, however, its role in adipose tissues remains unclear.
|
31597640 |
2020 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
An example is MeCP2, an abundant methylated-DNA binding protein that is mutated in the neurological disorder Rett syndrome.
|
31289233 |
2019 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations affecting MeCP2 are the primary cause of Rett syndrome (RTT), a severe neurological disorder that is thought to result from absence of functional protein in the brain.
|
31138832 |
2019 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
MeCP2 is a fundamental protein associated with several neurological disorders, including Rett syndrome.
|
30402709 |
2019 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
It is hoped that these information facilitate systematic characterization of mouse models that may aid in elucidating the role of MeCP2 in neurological disorders, as well as assessing the effects of putative mechanistic and therapeutic interventions.
|
31273723 |
2019 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Rett Syndrome (RTT) is a neurological disorder mainly associated with mutations in the X-linked gene coding for the methyl-CpG binding protein 2 (MECP2).
|
31229631 |
2019 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the methyl-CpG binding protein 2 (MECP2) gene cause Rett syndrome (RTT), a progressive X-linked neurological disorder characterized by loss of developmental milestones, intellectual disability and breathing abnormality.
|
30447288 |
2019 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a severe and rare neurological disorder that is caused by mutations in the X-linked <i>MECP2</i> (methyl CpG-binding protein 2) gene.
|
30619462 |
2018 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The child's severe phenotype, the family history and segregation analysis of variants and prior reports of GNAO1-linked disease allowed us to conclude that the GNAO1 mutation, and not the MECP2 variants, was the cause of this child's neurological disease.
|
29961512 |
2018 |
|
nervous system disorder
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Expression of MeCP2 must be carefully regulated as a reduction or increase results in serious neurological disorders.
|
29637441 |
2018 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Studies linking mutations in Methyl CpG Binding Protein 2 (MeCP2) to physiological defects in the neurological disease, Rett syndrome, have focused largely upon neuronal dysfunction despite MeCP2 ubiquitous expression.
|
29313799 |
2018 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MeCP2 is a nuclear protein that is mutated in the severe neurological disorder Rett syndrome (RTT).
|
30157418 |
2018 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a neurological disorder mainly caused by mutations in MeCP2 gene.
|
29720131 |
2018 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (<i>MECP2</i>), a ubiquitously expressed transcriptional regulator.
|
29445033 |
2018 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Genes relevant to neuronal function or neurological disease include up-regulated genes: PKC-alpha (<i>Prkca</i>), MECP2 (<i>Mecp2</i>), STRN4 (<i>Strn4</i>), SLC40a1 (<i>Slc40a1</i>), POLD2 (<i>Pold2</i>), PCSK2 (<i>Pcsk2</i>), and down-regulated genes: KRT12 (<i>Krt12</i>), LASS1 (<i>Cers1</i>), PLAT (<i>Plat</i>), and NRXN1 (<i>Nrxn1</i>).
|
28367114 |
2017 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in the gene encoding the methyl-CG binding protein MeCP2 cause several neurological disorders including Rett syndrome.
|
28498846 |
2017 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RS) is a debilitating neurological disorder affecting mostly girls with heterozygous mutations in the gene encoding the methyl-CpG-binding protein MeCP2 on the X chromosome.
|
28143937 |
2017 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Dysfunction of MeCP2 is associated with a variety of neurological disorders.
|
28743991 |
2017 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in MECP2 cause Rett syndrome (RTT), an X-linked neurological disorder characterized by regressive loss of neurodevelopmental milestones and acquired psychomotor deficits.
|
28920956 |
2017 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Ever since the first report that mutations in methyl-CpG-binding protein 2 (MeCP2) causes Rett syndrome (RTT), a severe neurological disorder in females world-wide, there has been a keen interest to gain a comprehensive understanding of this protein.
|
28177766 |
2017 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome (RTT), a neurological disorder affecting cognitive development, respiration, and motor function.
|
28394263 |
2017 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome.
|
29019980 |
2017 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in MECP2 in females are associated with Rett syndrome, a neurological disorder characterized by a normal neonatal period, followed by the arrest of development and regression of acquired skills.
|
26490184 |
2016 |
|
nervous system disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome is a rare but severe neurological disorder associated with a mutation in the methyl CpG binding protein 2 (MECP2) gene.
|
27255190 |
2016 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism.
|
27064487 |
2016 |