Search Results

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

• Authors : Jain, Pritesh; Miller-Fleming, Tyne; Topaloudi, Apostolia

Subjects: Male; Female; Humans

• Source: Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS) , EMTICS Collaborative Group , TS-EUROTRAIN network , Jain , P , Miller-Fleming , T , Topaloudi , A , Yu , D , Drineas , P ,

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Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling.

• Authors : Pagano, Jessica; Landi, Silvia; Sala, Carlo

Subjects: info:eu-repo/classification/ddc/610; Mice; AnimalsDE

• Source: Molecular autism 14(1), 28 (2023). doi:10.1186/s13229-023-00557-2

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Immune activation during pregnancy exacerbates ASD-related alterations in Shank3-deficient mice.

• Authors : Atanasova, Ekaterina; Arévalo, Andrea Pérez; Graf, Ines

Subjects: info:eu-repo/classification/ddc/610; Female; PregnancyDE

• Source: Molecular autism 14(1), 1 (2023). doi:10.1186/s13229-022-00532-3

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Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism

• Authors : Tzanoulinou, Stamatina; Musardo, Stefano; Contestabile, Alessandro

Subjects: info:eu-repo/classification/ddc/616.8; Autism Spectrum Disorder / genetics; Disease Models

• Source: ISSN: 1359-4184 ; Molecular psychiatry, vol. 27, no. 4 (2022) p. 2080-2094.

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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

• Authors : Riggs, Erin Rooney; Bingaman, Taylor; Barry, Carrie-Ann ...

Subjects: Autism; ClinGen; Gene–disease validity

• Source: https://inserm.hal.science/inserm-03816347 ; 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩.

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Shank2/3 double knockout-based screening of cortical subregions links the retrosplenial area to the loss of social memory in autism spectrum disorders.

• Authors : Garrido, Débora; Beretta, Stefania; Castanese, Alberto

Subjects: info:eu-repo/classification/ddc/610; Animals; MiceDE

• Source: Molecular psychiatry 27(12), 4994-5006 (2022). doi:10.1038/s41380-022-01756-8

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SHANK3 deficiency leads to myelin defects in the central and peripheral nervous system.

• Authors : Malara, Mariagiovanna; Lutz, Anne-Kathrin; Arévalo, Andrea Pérez

Subjects: info:eu-repo/classification/ddc/610; Animals; Autism Spectrum Disorder: geneticsDE

• Source: Cellular and molecular life sciences 79(7), 371 (2022). doi:10.1007/s00018-022-04400-4

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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

• Authors : Kloth, Katja; Lozic, Bernarda; Tagoe, Julia

Subjects: Adolescent [MeSH]; Ankyrin-G; Mutation

• Source: http://lobid.org/resources/99370672695206441#!, 22(4):263-269.

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Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

• Authors : Eltokhi, Ahmed; Gonzalez-Lozano, Miguel A; Oettl, Lars-Lennart

Subjects: Neuroscience; Neurons/metabolism [MeSH]; Nerve Tissue Proteins/metabolism [MeSH]

• Source: http://lobid.org/resources/99370675519006441#!, 26(11):6482-6504.

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Investigation of gene-environment interactions in relation to tic severity

• Authors : Mohamed Abdulkadir; Dongmei Yu; Lisa Osiecki

Subjects: Attention Deficit Disorder with Hyperactivity* / genetics; Autism Spectrum Disorder* / genetics; Female

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