منابع مشابه
SnapShot: Genetics of Autism
9q34.13 (TSC1) Hamartin, a growth inhibitory protein that negatively regulates the mTOR pathway Tuberous Sclerosis type I. (Liver and neural tube defects. Die by E12. Abnormal kidney and liver growth in heterozygotes. Variable brain structure, function and behavior abnormalities in conditional mutants. Die at various postnatal ages. Neuronspecific loss causes abnormal spine morphology and corti...
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See online version for legend and references. 570 Cell 160, January 29, 2015 ©2015 Elsevier Inc. DOI http://dx.doi.org/10.1016/j.cell.2015.01.019 gene offi cial symbol gene name location Possible pathways / pathological biological processes mendelIAn genes SNCA Synuclein, alpha 4q21 Synaptic function; mitochondrial function; autophagy/lysosomal degradation PARK2 Parkin RBR E3 ubiquitin protein ...
متن کاملSnapShot: Genetics of Alzheimer’s Disease
Gene offi cial symbol Gene name Location Possible pathways / pathological biological processes MenDeLIAn Genes APP Amyloid β (A4) precursor protein 21q21.3 Damage response?/Amyloid cascade PSEN1 Presenilin 1 14q24.3 Regulation of APP processing (amyloid cascade); cleavage of APP, the Notch receptor, and other transmembrane proteins PSEN2 Presenilin 2 1q31-q42 Regulation of APP processing (amylo...
متن کاملSnapShot: Autism and the Synapse
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متن کاملAutism genetics.
Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic underpinnings. However, genetic contributions to autism are extremely heterogeneous, with many different loci underlying the disease to a different extent in different individuals. Moreover, the phenotypic expression (i.e., "penetrance") of these genetic components is also highly variable, ranging from fully...
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ژورنال
عنوان ژورنال: Neuron
سال: 2011
ISSN: 0896-6273
DOI: 10.1016/j.neuron.2011.10.007