https://novaprd-lb.newcastle.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:52402 Wed 28 Feb 2024 15:53:13 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:47995 Wed 22 Mar 2023 15:56:37 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:46821 CRKL. A total of 45 of the 62 variants were associated with increased risk for CTDs (odds ratio [OR) ranges: 1.64–4.75). Associations of four variants were replicated in a meta-analysis of three genome-wide association studies of CTDs in affected individuals without 22q11.2DS. One of the replicated variants, rs178252, is located in an open chromatin region and resides in the double-elite enhancer, GH22J020947, that is predicted to regulate CRKL (CRK-like proto-oncogene, cytoplasmic adaptor) expression. Approximately 23% of patients with nested LCR22C-D deletions have CTDs, and inactivation of Crkl in mice causes CTDs, thus implicating this gene as a modifier. Rs178252 and rs6004160 are expression quantitative trait loci (eQTLs) of CRKL. Furthermore, set-based tests identified an enhancer that is predicted to target CRKL and is significantly associated with CTD risk (GH22J020946, sequence kernal association test (SKAT) p = 7.21 × 10−5) in the 22q11.2DS cohort. These findings suggest that variance in CTD penetrance in the 22q11.2DS population can be explained in part by variants affecting CRKL expression.]]> Wed 13 Mar 2024 15:07:07 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:47834 Wed 01 Feb 2023 13:49:54 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:42245 Tue 21 Mar 2023 19:04:35 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:33797 Tue 15 Jan 2019 15:29:29 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:38841 Tue 15 Feb 2022 15:40:34 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:47031 Tue 13 Dec 2022 14:08:32 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:36578 Tue 09 Jun 2020 12:08:41 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:52247 Thu 05 Oct 2023 14:01:20 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:9528 Sat 24 Mar 2018 08:35:32 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:18309 Sat 24 Mar 2018 08:04:40 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:21762 Sat 24 Mar 2018 07:53:06 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:33772 Fri 11 Jan 2019 13:41:08 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:49824 Fri 02 Jun 2023 16:31:54 AEST ]]>