https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45560 Wed 28 Feb 2024 15:21:35 AEDT ]]> Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20561 Tue 10 Oct 2023 08:38:59 AEDT ]]> Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:46890 Tue 06 Dec 2022 12:02:52 AEDT ]]> The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:9594 Sat 24 Mar 2018 08:39:37 AEDT ]]> Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:9647 Sat 24 Mar 2018 08:35:25 AEDT ]]> Systematic review and meta-analysis of the association between complementary factor HY402H polymorphisms and age-related macular degeneration https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:1066 Sat 24 Mar 2018 08:32:10 AEDT ]]> Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:18595 Sat 24 Mar 2018 08:01:05 AEDT ]]> Altered LKB1/AMPK/TSC1/TSC2/mTOR signaling causes disruption of sertoli cell polarity and spermatogenesis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:21602 cko) in somatic testicular cells to define the molecular mechanisms involved in the development of the testicular phenotype observed in PJS patients. Focal vacuolization in some of the seminiferous tubules was observed in 4-week-old mutant testes but germ cell development appeared to be normal. However, similar to PJS patients, we observed progressive germ cell loss and Sertoli cell only tubules in Lkb1cko testes from mice older than 10 weeks, accompanied by defects in Sertoli cell polarity and testicular junctional complexes and decreased activation of the MAP/microtubule affinity regulating and focal adhesion kinases. Suppression of AMP kinase and activation of mammalian target of rapamycin (mTOR) signaling were also observed in Lkb1cko testes. Loss of Tsc1 or Tsc2 copies the progressive Lkb1cko phenotype, suggesting that dysregulated activation of mTOR contributes to the pathogenesis of the Lkb1cko testicular phenotype. Ptencko mice had a normal testicular phenotype, which could be explained by the comparative lack of mTOR activation detected. These studies describe the importance of LKB1 signaling in testicular biology and the possible molecular mechanisms driving the pathogenesis of the testicular defects observed in PJS patients.]]> Sat 24 Mar 2018 07:59:37 AEDT ]]> Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20501 Sat 24 Mar 2018 07:59:03 AEDT ]]> Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:18970 Sat 24 Mar 2018 07:58:53 AEDT ]]> Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20582 Sat 24 Mar 2018 07:55:36 AEDT ]]> The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19680 Sat 24 Mar 2018 07:53:39 AEDT ]]> SIAH1 targets the alternative splicing factor T-STAR for degradation by the proteasome https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:6573 Sat 24 Mar 2018 07:49:17 AEDT ]]> Dysregulation of miRNA 181b in the temporal cortex in schizophrenia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:5407 Sat 24 Mar 2018 07:48:18 AEDT ]]> Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26556 Sat 24 Mar 2018 07:26:14 AEDT ]]> GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27911 −8) at 6p22.3 (rs1740828; P = 2.29 x 10−8, OR = 1.20), providing evidence of an additional region of interest for genetic susceptibility to endometrial cancer.]]> Sat 24 Mar 2018 07:24:36 AEDT ]]> A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23033 Sat 24 Mar 2018 07:13:48 AEDT ]]> A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:24704 85% loss of 'pore' function of the P2X7 receptor measured by ATP-induced ethidium uptake. Analysis shows Arg307Gln always occurred with 270His suggesting a single 307Gln-270His haplotype which confers dominant negative effects on P2X7 function and protection against MS. Modelling based on the homologous zP2X4 receptor showed Arg307 is located in a region rich in basic residues located only 12Å from the ligand binding site. Our data show the protective effect against MS of a rare genetic variant of P2RX7 with heterozygotes showing near absent proinflammatory 'pore' function.]]> Sat 24 Mar 2018 07:10:52 AEDT ]]> No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20198 Mon 22 Jun 2020 13:17:12 AEST ]]>