FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4283724945> ?p ?o ?g. }

• W4283724945 abstract "Abstract Abrupt onset of severe neuropsychiatric symptoms including obsessive–compulsive disorder, tics, anxiety, mood swings, irritability, and restricted eating is described in children with Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS). Symptom onset is often temporally associated with infections, suggesting an underlying autoimmune/autoinflammatory etiology, although direct evidence is often lacking. The pathological mechanisms are likely heterogeneous, but we hypothesize convergence on one or more biological pathways. Consequently, we conducted whole exome sequencing (WES) on a U.S. cohort of 386 cases, and whole genome sequencing (WGS) on ten cases from the European Union who were selected because of severe PANS. We focused on identifying potentially deleterious genetic variants that were de novo or ultra-rare (MAF) < 0.001. Candidate mutations were found in 11 genes ( PPM1D, SGCE, PLCG2, NLRC4, CACNA1B, SHANK3, CHK2, GRIN2A , RAG1 , GABRG2 , and SYNGAP1 ) in 21 cases, which included two or more unrelated subjects with ultra-rare variants in four genes. These genes converge into two broad functional categories. One regulates peripheral immune responses and microglia ( PPM1D, CHK2, NLRC4, RAG1, PLCG2 ). The other is expressed primarily at neuronal synapses ( SHANK3, SYNGAP1, GRIN2A, GABRG2, CACNA1B, SGCE ). Mutations in these neuronal genes are also described in autism spectrum disorder and myoclonus-dystonia. In fact, 12/21 cases developed PANS superimposed on a preexisting neurodevelopmental disorder. Genes in both categories are also highly expressed in the enteric nervous system and the choroid plexus. Thus, genetic variation in PANS candidate genes may function by disrupting peripheral and central immune functions, neurotransmission, and/or the blood-CSF/brain barriers following stressors such as infection." @default.
• W4283724945 created "2022-07-01" @default.
• W4283724945 creator A5006151432 @default.
• W4283724945 creator A5024021695 @default.
• W4283724945 creator A5034951829 @default.
• W4283724945 creator A5039110091 @default.
• W4283724945 creator A5048727416 @default.
• W4283724945 creator A5050139717 @default.
• W4283724945 creator A5053246999 @default.
• W4283724945 creator A5064932363 @default.
• W4283724945 creator A5065513365 @default.
• W4283724945 creator A5070765041 @default.
• W4283724945 creator A5077373074 @default.
• W4283724945 creator A5091781194 @default.
• W4283724945 date "2022-06-30" @default.
• W4283724945 modified "2023-10-17" @default.
• W4283724945 title "Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing" @default.
• W4283724945 cites W119082179 @default.
• W4283724945 cites W1566249398 @default.
• W4283724945 cites W1606006491 @default.
• W4283724945 cites W1621837727 @default.
• W4283724945 cites W1851415903 @default.
• W4283724945 cites W1862461292 @default.
• W4283724945 cites W1973950074 @default.
• W4283724945 cites W1979898192 @default.
• W4283724945 cites W1986892201 @default.
• W4283724945 cites W1988670106 @default.
• W4283724945 cites W2003800301 @default.
• W4283724945 cites W2010856456 @default.
• W4283724945 cites W2023570403 @default.
• W4283724945 cites W2032434406 @default.
• W4283724945 cites W2049760255 @default.
• W4283724945 cites W2053352311 @default.
• W4283724945 cites W2069038402 @default.
• W4283724945 cites W2070133355 @default.
• W4283724945 cites W2072288375 @default.
• W4283724945 cites W2075585574 @default.
• W4283724945 cites W2080595728 @default.
• W4283724945 cites W2083518676 @default.
• W4283724945 cites W2084450450 @default.
• W4283724945 cites W2102508455 @default.
• W4283724945 cites W2125957838 @default.
• W4283724945 cites W2130625735 @default.
• W4283724945 cites W2141041915 @default.
• W4283724945 cites W2167313026 @default.
• W4283724945 cites W2170434007 @default.
• W4283724945 cites W2255138985 @default.
• W4283724945 cites W2280665713 @default.
• W4283724945 cites W2337055863 @default.
• W4283724945 cites W2490641873 @default.
• W4283724945 cites W2500604401 @default.
• W4283724945 cites W2532117501 @default.
• W4283724945 cites W2571964779 @default.
• W4283724945 cites W2584951684 @default.
• W4283724945 cites W2587887764 @default.
• W4283724945 cites W2598132736 @default.
• W4283724945 cites W2599546856 @default.
• W4283724945 cites W2735527928 @default.
• W4283724945 cites W2738124581 @default.
• W4283724945 cites W2744930295 @default.
• W4283724945 cites W2754466080 @default.
• W4283724945 cites W2762735153 @default.
• W4283724945 cites W2767897123 @default.
• W4283724945 cites W2774654107 @default.
• W4283724945 cites W2777753808 @default.
• W4283724945 cites W2785091318 @default.
• W4283724945 cites W2787885183 @default.
• W4283724945 cites W2791458875 @default.
• W4283724945 cites W2795346480 @default.
• W4283724945 cites W2796737511 @default.
• W4283724945 cites W2804665683 @default.
• W4283724945 cites W2890344124 @default.
• W4283724945 cites W2897645746 @default.
• W4283724945 cites W2903359099 @default.
• W4283724945 cites W2903577630 @default.
• W4283724945 cites W2903738037 @default.
• W4283724945 cites W2905015201 @default.
• W4283724945 cites W2912951552 @default.
• W4283724945 cites W2917519714 @default.
• W4283724945 cites W2921576179 @default.
• W4283724945 cites W2944823785 @default.
• W4283724945 cites W2949693884 @default.
• W4283724945 cites W2952743173 @default.
• W4283724945 cites W2957689333 @default.
• W4283724945 cites W2962974132 @default.
• W4283724945 cites W2967642841 @default.
• W4283724945 cites W2977419850 @default.
• W4283724945 cites W2990663413 @default.
• W4283724945 cites W2996427812 @default.
• W4283724945 cites W2998879868 @default.
• W4283724945 cites W3000032241 @default.
• W4283724945 cites W3003157876 @default.
• W4283724945 cites W3007926708 @default.
• W4283724945 cites W3008761010 @default.
• W4283724945 cites W3011479596 @default.
• W4283724945 cites W3012816226 @default.
• W4283724945 cites W3021550938 @default.
• W4283724945 cites W3022516188 @default.
• W4283724945 cites W3024549394 @default.
• W4283724945 cites W3028915665 @default.

• next