Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dermatoglyphic patterns formed during fetal development reflect genetic or early developmental events. These patterns might provide a means for investigation of a biological basis for autism, but the results of prior studies are not conclusive. The authors undertook a study of 95 autistic children, defined by DSM-III criteria ascertained independently by three child psychiatrists. The dermatoglyphic patterns of these children were compared with several control groups, all age-matched, separated by sex, and comprising different ethnic compositions. Analysis of variance as well as chi-square methods of statistical analysis were applied. Consistency among hands, ATD angle values, total ridge counts, incidence and effects on ridge count of arches, double loops, and whorls were evaluated in this comparatively large, well-controlled group of autistic children, and all failed to support a value for dermatoglyphic analysis as a discriminant of autism.
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PMID:Dermatoglyphic study in autistic children and controls. 227 14

GluD2 receptor belongs to the orphan delta family of glutamate receptor ion channels. These receptors play key roles in synaptogenesis and synaptic plasticity and are associated with multiple neuronal disorders like schizophrenia, autism spectrum disorder, cerebellar ataxia, intellectual disability, paraplegia, retinal dystrophy, etc. Despite the importance of these receptors in CNS, insights into full-length GluD2 receptor structure is missing till-date. Here we report cryo-electron microscopy structure of the rat GluD2 receptor in the presence of calcium ions and the ligand 7-chlorokynurenic acid, elucidating its 3D architecture. The structure reveals a non-swapped architecture at the extracellular amino-terminal (ATD), and ligand-binding domain (LBD) interface similar to that observed in GluD1; however, the organization and arrangement of the ATD and LBD domains in GluD2 are unique. While our results demonstrate that non-swapped architecture is conserved in the delta receptor family, they also highlight the differences that exist between the two member receptors; GluD1 and GluD2.
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PMID:The architecture of GluD2 ionotropic delta glutamate receptor elucidated by cryo-EM. 3251 55