Results 141 to 150 of about 27,643 (268)

Mecp2-null mice provide new neuronal targets for Rett syndrome. [PDF]

, 2008
BACKGROUND: Rett syndrome (RTT) is a complex neurological disorder that is one of the most frequent causes of mental retardation in women. A great landmark in research in this field was the discovery of a relationship between the disease and the presence
Agustin F Fernandez, Rocio G. Urdinguio, Miguel Alaminos, Manel Esteller, Lopez-Serra Lidia, López Nieva, María Pilar, Esteller, Manel, Alaminos Miguel, Fernández, Agustín F., Ramon Diaz-Uriarte, Fernandez Agustin F., Rocio G Urdinguio, Urdinguio, Rocio G., Diaz-Uriarte Ramon, Urdinguio Rocio G., Lopez-Nieva Pilar, Lopez Serra, Lidia, López Nieva, Pilar, Lidia Lopez-Serra, Lopez-Serra, Lidia, Agustin F. Fernandez, Esteller Manel, Alaminos, Miguel, Pilar Lopez-Nieva, Díaz Uriarte, Ramón, Esteller, Manel, 1968-, Díaz-Uriarte, Ramón, López-Nieva, Pilar   +27 more
core   +2 more sources

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Regulation of mRNA splicing by MeCP2 via epigenetic modifications in the brain

, 2017
Mutations of X-linked gene Methyl CpG binding protein 2 (MECP2) are the major causes of Rett syndrome (RTT), a severe neurodevelopmental disorder. Duplications of MECP2-containing genomic segments lead to severe autistic symptoms in human.
Weidong Tian, Bin Tang, Jingqi Chen, Tian-Lin Cheng, Lujian Liao, Zilong Qiu, Huida Wan   +6 more
core   +1 more source

Deep brain stimulation outcomes and management of childhood‐onset dystonia and associated hyperkinetic movements disorders

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine longitudinal changes in self‐selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports.
Sinead Barkey, Laura Ainaga, Eva Maria Navarrete Muñoz, Verity McClelland, Keyoumars Ashkan, Richard Selway, Harutomo Hasegawa, Daniel E Lumsden, Jean‐Pierre Lin, Hortensia Gimeno   +9 more
wiley   +1 more source

Correction: Brain Region-Specific Expression of MeCP2 Isoforms Correlates with DNA Methylation within Mecp2 Regulatory Elements

, 2014
Correction: Brain Region-Specific Expression of MeCP2 Isoforms Correlates with DNA Methylation within Mecp2 Regulatory ...
PLOS ONE (2189197)
core   +1 more source

The utility of the term ‘Rett‐like’ in relation to Rett syndrome: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Our findings show that ‘Rett‐like’ generally describes females with developmental disability, typically with no period of regression. We establish that there is a broad genetic landscape encompassing this disorder. Clinical utility of ‘Rett‐like’ is limited, with inadequate evidence of validity and diagnostic use of ‘Rett‐like’.
Anahita Khot, Daniel E Lumsden
wiley   +1 more source

The Chromatin Structure at the MECP2 Gene and In Silico Prediction of Potential Coding and Non-Coding MECP2 Splice Variants

, 2022
Methyl CpG binding protein 2 (MeCP2) is an epigenetic reader that binds to methylated CpG dinucleotides and regulates gene transcription. Mecp2/MECP2 gene has 4 exons, encoding for protein isoforms MeCP2E1 and MeCP2E2.
Rastegar, Mojgan, Davie, James R., Mojgan Rastegar, Vuu, Yen My, Shevkoplyas, Danilo, Danilo Shevkoplyas, James R. Davie, Yen My Vuu   +7 more
core   +1 more source

Sequence features accurately predict genome-wide MeCP2 binding in vivo

, 2016
Methyl-CpG binding protein 2 (MeCP2) is critical for proper brain development and expressed at near-histone levels in neurons, but the mechanism of its genomic localization remains poorly understood. Using high-resolution MeCP2-binding data, we show that
Rube, H Tomas, Gong, Qizhi, Song, Jun S, Hess, John F, Chen, Huaiyang, Yasui, Dag H, Lee, Wooje, Hejna, Miroslav, LaSalle, Janine M   +8 more
core   +1 more source

The Role of MeCP2 in Brain Development and Neurodevelopmental Disorders [PDF]

, 2010
Methyl CpG binding protein-2 (MeCP2) is an essential epigenetic regulator in human brain development. Rett syndrome, the primary disorder caused by mutations in the X-linked MECP2 gene, is characterized by a period of cognitive decline and development of
LaSalle, Janine M., Janine M. LaSalle, Gonzales, Michael L., Michael L. Gonzales   +3 more
core   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source