|
Rett Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
We also predicted the structural order-disorder propensity and assessed the evolutionary rates per site of MeCP2, CDKL5, and FOXG1 to investigate the relationships between disordered structure and other related properties with RTT.
|
31717404 |
2019 |
|
Rett Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
CDKL5 and FOXG1 are other genes identified as causative genes in atypical forms of RTT.
|
30929312 |
2019 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical.
|
31105003 |
2019 |
|
Rett Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Human CDKL5, linked to Rett syndrome, also localizes to cilia, and it impairs ciliogenesis when overexpressed.
|
29420175 |
2018 |
|
Rett Syndrome
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The expression patterns of cdkl5 in zebrafish is in accordance with the tissues known to be affected in humans and associated to symptoms and deficits observed in Rett syndrome patients thus providing the first evidence that zebrafish could be an alternative model to study the molecular pathways of this disease as well as to test possible therapeutic approaches capable of rescuing the phenotype.
|
29752575 |
2018 |
|
Rett Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Inflammatory protein response in CDKL5-Rett syndrome: evidence of a subclinical smouldering inflammation.
|
27900411 |
2017 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants involving the CDKL5 gene result in a severe epileptic encephalopathy, often later presenting with features similar to Rett syndrome.
|
28605011 |
2017 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A recently discovered neurodevelopmental disorder caused by the mutation of the cyclin-dependent kinase-like 5 gene (CDKL5) entails complex autistic-like behaviours similar to Rett syndrome, but its impact upon physiological functions remains largely unexplored.
|
28230307 |
2017 |
|
Rett Syndrome
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Cyclin-dependent kinase-like 5 (CDKL5) is a Ser/Thr protein kinase primarily expressed in the central nervous system and is known to cause X-linked neurodevelopmental disorders such as Rett syndrome.
|
27840050 |
2017 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a neurodevelopmental disorder caused primarily by de novo mutations in MECP2 and sometimes in CDKL5 and FOXG1.
|
27171548 |
2017 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free.
|
27062609 |
2017 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in CDKL5 and FOXG1 genes have also been suggested to give rise to RTT, although subsequent more extensive studies suggest that diseases resulting from mutations in these two genes should be considered as distinct clinical entities.
|
28544139 |
2017 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
He was the half-brother of a girl diagnosed at 7 years with the early-onset seizure variant of Rett syndrome due to CDKL5 mutation.
|
26927095 |
2016 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FOXG1 have been reported to be involved in the onset of Rett Syndrome, for which sequence alterations of MECP2 and CDKL5 are known.
|
27001178 |
2016 |
|
Rett Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome, reinforcing the concept that CDKL5 is an independent disorder with its own distinctive characteristics.
|
27080038 |
2016 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with mutations in either MECP2, CDKL5 or FOXG1.
|
26443267 |
2016 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Methyl CpG binding protein 2 (MECP2), Cyclin dependent kinase-like 5 (CDKL5) and Forkhead box G1 (FOXG1) have been associated with classic and/or variant RTT.
|
27265524 |
2016 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study, cytokines involved in the Th1-, Th2-, and T regulatory (T-reg) response, as well as chemokines, were investigated in MECP2- (MECP2-RTT) (n = 16) and CDKL5-Rett syndrome (CDKL5-RTT) (n = 8), before and after ω-3 polyunsaturated fatty acids (PUFAs) supplementation.
|
26236424 |
2015 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study highlights a possible common denominator between two different RTT variants (MECP2 and CDKL5) and a possible common future therapeutic target.
|
26006105 |
2015 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of genes encoding cyclin-dependent kinase-like 5 (CDKL5) and forkhead box G1 (FOXG1) are also found in early onset RTT variants.
|
25931020 |
2015 |
|
Rett Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Variants in other genes such as CDKL5 and FOXG1 are usually associated with individuals who manifest distinct phenotypes that may overlap with RTT.
|
25424712 |
2015 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome).
|
24839169 |
2014 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cyclin-dependent kinase-like 5 (CDKL5) (NM_003159.2) gene have been associated with early-onset epileptic encephalopathies or Hanefeld variants of RTT(Rett syndrome).
|
24564546 |
2014 |
|
Rett Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
The classic form of RTT involves mutation in MECP2 while the involvement of CDKL5 and FOXG1 genes has been identified in atypical RTT phenotype.
|
24412290 |
2014 |
|
Rett Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1).
|
25389532 |
2014 |