Using conditional targeting of <i>Ift88</i> with <i>Wnt1-Cre</i>, we show that primary cilia of neural crest cells (NCC), precursors of most AS structures, are indispensable for normal AS development and their ablation leads to ASD conditions including abnormal corneal dimensions, defective iridocorneal angle, reduced anterior chamber volume and corneal neovascularization.
An induced pluripotent stem cells line (SDQLCHi014-A) derived from urine cells of a patient with ASD and hyperactivity carrying a 303 kb de novo deletion at chr3p26.1 implicating GRM7 gene.
The aims of this study were to examine novel mutations in PITX2 and FOXC1 in Chinese patients with anterior segment dysgenesis (ASD) and to compare the clinical presentations of these mutations with previously reported associated phenotypes.
We found that both idiopathic (BTBR) and genetic (CDKL5- and MeCP2-deficient) mouse models of ASD display an early, impaired cholinergic neuromodulation as reflected in altered spontaneous pupil fluctuations.
We describe a 7-year-old male with high functioning autism spectrum disorder (ASD) and maternally-inherited rare missense variant of Synaptotagmin-like protein 4 (<i>SYTL4)</i> gene (Xq22.1; c.835C>T; p.Arg279Cys) and an unknown missense variant of Transmembrane protein 187 (<i>TMEM187</i>) gene (Xq28; c.708G>T; p. Gln236His).
We aimed to develop and internally validate a scoring system, the adult spinal deformity surgical decision-making (ASD-SDM) score, to guide the decision-making process for ASD patients aged above 40 years.
ASD-associated SCN2A mutations impair the encoded protein Na<sub>V</sub>1.2, a sodium channel important for action potential initiation and propagation in developing excitatory cortical neurons.
Significant overexpression of NKG2C in hf-ASD patients (<i>p</i> = 0.0005), indicative of viral infections, was inversely correlated with the NKp46 receptor level (<i>r</i> = - 0.67; <i>p</i> < 0.0001), regardless of the IgG status of tested pathogens.
ASD significantly increased the expression of anti-oxidant enzymes (GSH, SOD, and CAT) in both liver and vascular tissue, reduced blood lipid levels (TG, TC, and LDL-C), and decreased lipid deposition in the liver and atherosclerotic lesion size in ApoE<sup>-/-</sup> mice.