FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4366400979> ?p ?o ?g. }

• W4366400979 abstract "Individuals with severe and treatment-resistant obsessive-compulsive disorder (trOCD) represent a small but severely disabled group of patients. Since trOCD cases eligible for deep brain stimulation (DBS) probably comprise the most severe end of the OCD spectrum, we hypothesize that they may be more likely to have a strong genetic contribution to their disorder. Therefore, while the worldwide population of DBS-treated cases may be small (∼300), screening these individuals with modern genomic methods may accelerate gene discovery in OCD. As such, we have begun to collect DNA from trOCD cases who qualify for DBS, and here we report results from whole exome sequencing and microarray genotyping of our first five cases. All participants had previously received DBS in the bed nucleus of stria terminalis (BNST), with two patients responding to the surgery and one showing a partial response. Our analyses focused on gene-disruptive rare variants (GDRVs; rare, predicted-deleterious single-nucleotide variants or copy number variants overlapping protein-coding genes). Three of the five cases carried a GDRV, including a missense variant in the ion transporter domain of KCNB1 , a deletion at 15q11.2, and a duplication at 15q26.1. The KCNB1 variant (hg19 chr20-47991077-C-T, NM_004975.3:c.1020G>A, p.Met340Ile) causes substitution of methionine for isoleucine in the trans-membrane region of neuronal potassium voltage-gated ion channel KV2.1. This KCNB1 substitution (Met340Ile) is located in a highly constrained region of the protein where other rare missense variants have previously been associated with neurodevelopmental disorders. The patient carrying the Met340Ile variant responded to DBS, which suggests that genetic factors could potentially be predictors of treatment response in DBS for OCD. In sum, we have established a protocol for recruiting and genomically characterizing trOCD cases. Preliminary results suggest that this will be an informative strategy for finding risk genes in OCD." @default.
• W4366400979 created "2023-04-21" @default.
• W4366400979 creator A5012179903 @default.
• W4366400979 creator A5027398163 @default.
• W4366400979 creator A5049973963 @default.
• W4366400979 creator A5063173199 @default.
• W4366400979 creator A5072483740 @default.
• W4366400979 creator A5079202864 @default.
• W4366400979 creator A5087500358 @default.
• W4366400979 creator A5091844787 @default.
• W4366400979 date "2023-04-19" @default.
• W4366400979 modified "2023-10-14" @default.
• W4366400979 title "Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: a preliminary investigation" @default.
• W4366400979 cites W1036296147 @default.
• W4366400979 cites W1625196699 @default.
• W4366400979 cites W1628590243 @default.
• W4366400979 cites W1742833546 @default.
• W4366400979 cites W1905244645 @default.
• W4366400979 cites W1966403141 @default.
• W4366400979 cites W1979431943 @default.
• W4366400979 cites W1991633140 @default.
• W4366400979 cites W2021782736 @default.
• W4366400979 cites W2036796020 @default.
• W4366400979 cites W2044692611 @default.
• W4366400979 cites W2061664912 @default.
• W4366400979 cites W2075314429 @default.
• W4366400979 cites W2078600098 @default.
• W4366400979 cites W2099328768 @default.
• W4366400979 cites W2103441770 @default.
• W4366400979 cites W2108234281 @default.
• W4366400979 cites W2121648229 @default.
• W4366400979 cites W2123822033 @default.
• W4366400979 cites W2131823335 @default.
• W4366400979 cites W2134581110 @default.
• W4366400979 cites W2146699327 @default.
• W4366400979 cites W2153976236 @default.
• W4366400979 cites W2161118302 @default.
• W4366400979 cites W2167273704 @default.
• W4366400979 cites W2168133698 @default.
• W4366400979 cites W2170644025 @default.
• W4366400979 cites W2256016639 @default.
• W4366400979 cites W2473786944 @default.
• W4366400979 cites W2489928876 @default.
• W4366400979 cites W2625862723 @default.
• W4366400979 cites W2745586800 @default.
• W4366400979 cites W2770711644 @default.
• W4366400979 cites W2898165758 @default.
• W4366400979 cites W2952766192 @default.
• W4366400979 cites W2970512107 @default.
• W4366400979 cites W2972921256 @default.
• W4366400979 cites W2980865433 @default.
• W4366400979 cites W2982520445 @default.
• W4366400979 cites W3004307487 @default.
• W4366400979 cites W3029661147 @default.
• W4366400979 cites W3036538738 @default.
• W4366400979 cites W3087284940 @default.
• W4366400979 cites W3091567111 @default.
• W4366400979 cites W3094060584 @default.
• W4366400979 cites W3126607677 @default.
• W4366400979 cites W3127364674 @default.
• W4366400979 cites W3174751313 @default.
• W4366400979 cites W3200066903 @default.
• W4366400979 cites W4211038581 @default.
• W4366400979 cites W4226343268 @default.
• W4366400979 cites W4229005097 @default.
• W4366400979 cites W4247053599 @default.
• W4366400979 cites W4289262011 @default.
• W4366400979 cites W4296782684 @default.
• W4366400979 cites W4297473311 @default.
• W4366400979 cites W4303685845 @default.
• W4366400979 doi "https://doi.org/10.1101/2023.04.15.23288623" @default.
• W4366400979 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37131580" @default.
• W4366400979 hasPublicationYear "2023" @default.
• W4366400979 type Work @default.
• W4366400979 citedByCount "0" @default.
• W4366400979 crossrefType "posted-content" @default.
• W4366400979 hasAuthorship W4366400979A5012179903 @default.
• W4366400979 hasAuthorship W4366400979A5027398163 @default.
• W4366400979 hasAuthorship W4366400979A5049973963 @default.
• W4366400979 hasAuthorship W4366400979A5063173199 @default.
• W4366400979 hasAuthorship W4366400979A5072483740 @default.
• W4366400979 hasAuthorship W4366400979A5079202864 @default.
• W4366400979 hasAuthorship W4366400979A5087500358 @default.
• W4366400979 hasAuthorship W4366400979A5091844787 @default.
• W4366400979 hasBestOaLocation W43664009791 @default.
• W4366400979 hasConcept C104317684 @default.
• W4366400979 hasConcept C126322002 @default.
• W4366400979 hasConcept C16671776 @default.
• W4366400979 hasConcept C2778542668 @default.
• W4366400979 hasConcept C2779134260 @default.
• W4366400979 hasConcept C2779734285 @default.
• W4366400979 hasConcept C2908647359 @default.
• W4366400979 hasConcept C501734568 @default.
• W4366400979 hasConcept C54355233 @default.
• W4366400979 hasConcept C60644358 @default.
• W4366400979 hasConcept C69991583 @default.
• W4366400979 hasConcept C71924100 @default.
• W4366400979 hasConcept C75563809 @default.
• W4366400979 hasConcept C7602840 @default.
• W4366400979 hasConcept C86803240 @default.

• next