State University of New York System

About: State University of New York System is a education organization based out in Albany, New York, United States. It is known for research contribution in the topics: Population & Poison control. The organization has 54077 authors who have published 78070 publications receiving 2985160 citations.

Threshold models of diffusion and collective behavior

Abstract: (1983). Threshold models of diffusion and collective behavior. The Journal of Mathematical Sociology: Vol. 9, No. 3, pp. 165-179.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Abstract: The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Abstract: Malignant migrating partial seizures of infancy (MMPSI) is a rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. We performed exome sequencing in three probands with MMPSI and identified de novo gain-of-function mutations affecting the C-terminal domain of the KCNT1 potassium channel. We sequenced KCNT1 in 9 additional individuals with MMPSI and identified mutations in 4 of them, in total identifying mutations in 6 out of 12 unrelated affected individuals. Functional studies showed that the mutations led to constitutive activation of the channel, mimicking the effects of phosphorylation of the C-terminal domain by protein kinase C. In addition to regulating ion flux, KCNT1 has a non-conducting function, as its C terminus interacts with cytoplasmic proteins involved in developmental signaling pathways. These results provide a focus for future diagnostic approaches and research for this devastating condition.

Fundamental studies of methanol synthesis from CO(2) hydrogenation on Cu(111), Cu clusters, and Cu/ZnO(0001).

Abstract: A combination of experimental and theoretical methods were employed to investigate the synthesis of methanol via CO2 hydrogenation (CO2 + 3H2 → CH3OH + H2O) on Cu(111) and Cu nanoparticle surfaces High pressure reactivity studies show that Cu nanoparticles supported on a ZnO(000) single crystal exhibit a higher catalytic activity than the Cu(111) planar surface Complementary density functional theory (DFT) calculations of methanol synthesis were also performed for a Cu(111) surface and unsupported Cu29 nanoparticles, and the results support a higher activity for Cu nanoparticles The DFT calculations show that methanol synthesis on Cu surfaces proceeds through a formate intermediate and the overall reaction rate is limited by both formate and dioxomethylene hydrogenation Moreover, the superior activity of the nanoparticle is associated with its fluxionality and the presence of low-coordinated Cu sites, which stabilize the key intermediates, eg formate and dioxomethylene, and lower the barrier for the rate-limiting hydrogenation process The reverse water-gas-shift (RWGS) reaction (CO2 + H2 → CO + H2O) was experimentally observed to compete with methanol synthesis and was also considered in our DFT calculations In agreement with experiment, the rate of the RWGS reaction on Cu nanoparticles is estimated to be ∼2 orders of magnitude faster than methanol synthesis at T = 573 K The experiments and calculations also indicate that CO produced by the fast RWGS reaction does not undergo subsequent hydrogenation to methanol, but instead simply accumulates as a product Methanol production from CO hydrogenation via the RWGS pathway is hindered by the first hydrogenation of CO to formyl, which is not stable and prefers to dissociate into CO and H atoms on Cu Our calculated results suggest that the methanol yield over Cu-based catalysts could be improved by adding dopants or promoters which are able to stabilize formyl species or facilitate the hydrogenation of formate and dioxomethylene