Drug hypersensitivity caused by alteration of the MHC-presented self-peptide repertoire [PDF]
Idiosyncratic adverse drug reactions are unpredictable, dose independent and potentially life threatening; this makes them a major factor contributing to the cost and uncertainty of drug development. Clinical data suggest that many such reactions involve
A. Lucas +47 more
core +4 more sources
Altered Brain Structure in an ATRX‐Deficient Mouse Model of Autism Spectrum Disorder
ABSTRACT Mutations in the ATRX gene are a primary cause of alpha‐thalassemia intellectual disability X‐linked (ATRX) syndrome, which is characterized by intellectual disability, autism, and a range of brain structural abnormalities, including microcephaly.
Katherine Quesnel +3 more
wiley +1 more source
Mechanisms conferring sensitivity to low dose radiation exposure and consideration of potentially sensitivie individuals [PDF]
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Jeggo, Penny
core
The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired communication, abnormal social interactions, and restricted, repetitive behaviors. Pathogenic mutations in UBE3B result in neurodevelopmental disease, including intellectual disability, lack of speech, and ASD.
Shayal Vashisth +7 more
wiley +1 more source
BackgroundIn 2015, high rates of microcephaly were reported in Northeast Brazil following the first South American Zika virus (ZIKV) outbreak. Reported microcephaly rates in other Zika-affected areas were significantly lower, suggesting alternate causes ...
Oliver J Brady +18 more
doaj +1 more source
Mutations in
Background Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date.
Mir Asif +7 more
doaj +1 more source
Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda +11 more
core +1 more source
Identification of novel genes regulating the development of the palate
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley +1 more source
Mechanisms of Zika virus infection and neuropathogenesis [PDF]
A spotlight has been focused on the mosquito-borne Zika virus (ZIKV) because of its epidemic outbreak in Brazil and Latin America, as well as the severe neurological manifestations of microcephaly and Guillain–Barré syndrome associated with infection. In
Coyne, Carolyn B +4 more
core +2 more sources

