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Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019
| Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019 |
| Autore | Butler Merlin G |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (256 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences Genetics (non-medical) |
| Soggetto non controllato |
autism spectrum disorders (ASD)
cancer overlapping genes and gene profiling super-pathways phenotypes and diseases molecular functions and processes 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome imprinting parent-of-origin effects phenotype-genotype correlation autism developmental delays motor delays microbiome gut ProSAP2 Phelan McDermid Syndrome gut–brain interaction leaky gut IL-6 SHANK collapsin response mediator protein 4 autism spectrum disorder neurodevelopmental disorder whole-exome sequencing animal model sex different phenotypes 15q11.2 BP1–BP2 microdeletion (Burnside–Butler syndrome) NIPA1 NIPA2 CYFIP1 TUBGCP5 genes Prader–Willi and Angelman syndromes magnesium transporters and supplementation potential treatment options intellectual disability AMPA receptors NMDA receptors guanine nucleotide exchange factor synaptic plasticity Autism spectrum disorder ASD Obesity Overweight Body mass index BMI autism candidate genes synaptotagmin-like protein 4 (SYTL4) transmembrane protein 187 (TMEM187) SYTL4-protein structure STRING-protein-protein interaction expression profile microRNA- interactions autism spectrum disorders biological networks genomics multi-omics network diffusion data integration genetics quantitative traits stratification by trait severity heterogeneity reduction case-control association analysis fragile X syndrome RNA toxicity DNA methylation mosaicism pediatrics MS-QMA AmplideX cytokine monocyte β-glucan T cell cytokine trained immunity maternal immune activation epigenetics mice postnatal VPA injection SAM gene expression nanostring |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566483203321 |
Butler Merlin G
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Towards Mechanism-based Treatments for Fragile X Syndrome
| Towards Mechanism-based Treatments for Fragile X Syndrome |
| Autore | Kumari Daman |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (250 p.) |
| Soggetto non controllato |
lymphoblast
pluripotent stem cells FMR1 Gene editing X chromosome Fmr1 epigenetic gene silencing FMR1 gene Fragile X syndrome 1 repeat instability characteristics that have the greatest impact DNA instability working memory language development mosaicism CRISPR 3 clinical trials autism spectrum disorders Fmr1 KO mouse automated vocal analysis base excision repair (BER) inhibitory control cerebral spinal fluid iPSC drug development targeted treatments molecular biomarkers viral vector avoidance biomarker set-shifting early identification expansion anxiety planning voice of the person mismatch repair (MMR) gene reactivation double-strand break repair (DSBR) newborn screening intellectual disability processing speed voice of the patient fragile X syndrome adeno-associated virus neurodevelopmental disorders histone methylation Non-homologous end-joining (NHEJ) ASD Fxr2 Fragile X-associated Tremor/Ataxia Syndrome 2 Trinucleotide Repeat 4 CGG Repeat Expansion Disease DNA methylation contraction fragile X mental retardation protein RNA:DNA hybrid behavior developmental disorders cognition females FMRP Fragile X Syndrome unstable repeat diseases protein synthesis brain cognitive flexibility treatment development fibroblast PRC2 transcription coupled repair (TCR) best practices attention Fragile X executive function |
| ISBN | 3-03921-506-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910367759103321 |
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Kumari Daman
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| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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