Results 91 to 100 of about 33,901 (278)
On a break with the X: the role of repair of double-stranded DNA breaks in X-linked disease [PDF]
, 2012 The problem of managing free reactive DNA ends in eukaryotic cells has resulted in the development of a number of mechanisms in order to ensure that free ends are rendered non-reactive, or that the double-strand DNA breaks generating the free ends are ...
Cecceroni, Lucia +2 more
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Clinical Genetics, EarlyView.Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti +16 more
wiley +1 more source
MECP2 mutations in males [PDF]
Journal of Medical Genetics, 2007 Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10 000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene.
openaire +2 more sources
MeCP2-Related Diseases and Animal Models [PDF]
Diseases, 2014 The role of epigenetics in human disease has become an area of increased research interest. Collaborative efforts from scientists and clinicians have led to a better understanding of the molecular mechanisms by which epigenetic regulation is involved in the pathogenesis of many human diseases.
Chinelo D. Ezeonwuka, Mojgan Rastegar
openaire +3 more sources
Neurobiology of Disease, 2009 The expression of the methylated DNA-binding protein MeCP2 increases during neuronal development, which suggests that this epigenetic factor is crucial for neuronal terminal differentiation.
Jennifer L. Larimore +5 more
doaj +1 more source
Developmental Medicine &Child Neurology, EarlyView.This systematic review identifies and categorizes the spectrum of non‐epileptic paroxysmal events in Rett syndrome. Respiratory disturbances, behavioural episodes, and motor events were the most commonly reported. Improving clinician awareness and diagnostic clarity is key to avoiding unnecessary treatment and enhancing quality of life for individuals ...
Natasha Bhatti, Daniel E. Lumsden
wiley +1 more source
Persistent Expression of Serotonin Receptor 5b Alters Breathing Behavior in Male MeCP2 Knockout Mice
Frontiers in Molecular Neuroscience, 2018 Mutations in the transcription factor methyl-CpG-binding protein 2 (MeCP2) cause the neurodevelopmental disorder Rett syndrome (RTT). Besides many other neurological problems, RTT patients show irregular breathing with recurrent apneas or breath-holdings.
Steffen Vogelgesang +9 more
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective Developmental and epileptic encephalopathy with spike–wave activation in sleep ((D)EE‐SWAS) is associated with acquired cognitive and behavioral deficits. This international multicenter study aimed to compare cognitive and safety outcomes following initial treatment with corticosteroid and clobazam in patients not eligible for the ...
Marleen M. L. van Arnhem +18 more
wiley +1 more source
Experience-dependent MeCP2 expression in the excitatory cells of mouse visual thalamus. [PDF]
PLoS ONE, 2018 Loss or gain of copy number of the gene encoding the transcription factor methyl-CpG-binding protein 2 (MeCP2) leads to neurodevelopmental disorders (Rett and MeCP2 duplication syndrome), indicating that precisely regulated MeCP2 expression during ...
Yuki Yagasaki +2 more
doaj +1 more source
Transposable Elements, Inflammation, and Neurological Disease. [PDF]
, 2019 Transposable Elements (TE) are mobile DNA elements that can replicate and insert themselves into different locations within the host genome. Their propensity to self-propagate has a myriad of consequences and yet their biological significance is not well-
Macia, Angela +2 more
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