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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 3 4 Hits 1 – 20 of 61 1 DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations. Bally, J.F.; Camargos, S.; Oliveira Dos Santos, C.... In: Neurology, vol. 96, no. 14, pp. e1887-e1897 (2021) BASE Show details 2 Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Bigdeli, Tim B; Genovese, Giulio; Georgakopoulos, Penelope... In: Molecular psychiatry, vol 25, iss 10 (2020) BASE Show details 3 Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Bigdeli, Tim B; Genovese, Giulio; Georgakopoulos, Penelope... In: Molecular psychiatry, vol 25, iss 10 (2020) BASE Show details 4 Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula Pimenta, J; Lopes, AM; Carracedo, A. - : Nature Publishing Group, 2019 BASE Show details 5 Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis. Kuiper, Jonas JW; Setten, Jessica van; Devall, Matthew; Cretu-Stancu, Mircea; Hiddingh, Sanne; Ophoff, Roel A; Missotten, Tom OAR; Velthoven, Mirjam van; Den Hollander, Anneke I; Hoyng, Carel B; James, Edward; Reeves, Emma; Cordero-Coma, Miguel; Fonollosa, Alejandro; Adán, Alfredo; Martín, Javier; Koeleman, Bobby PC; Boer, Joke H de; Pulit, Sara L; Márquez, Ana; Radstake, Timothy RDJ In: Human molecular genetics, vol 27, iss 24 (2018) Abstract: Birdshot Uveitis (Birdshot) is a rare eye condition that affects HLA-A29-positive individuals and could be considered a prototypic member of the recently proposed 'MHC-I (major histocompatibility complex class I)-opathy' family. Genetic studies have pinpointed the endoplasmic reticulum aminopeptidase (ERAP1) and (ERAP2) genes as shared associations across MHC-I-opathies, which suggests ERAP dysfunction may be a root cause for MHC-I-opathies. We mapped the ERAP1 and ERAP2 haplotypes in 84 Dutch cases and 890 controls. We identified association at variant rs10044354, which mediated a marked increase in ERAP2 expression. We also identified and cloned an independently associated ERAP1 haplotype (tagged by rs2287987) present in more than half of the cases; this ERAP1 haplotype is also the primary risk and protective haplotype for other MHC-I-opathies. We show that the risk ERAP1 haplotype conferred significantly altered expression of ERAP1 isoforms in transcriptomic data (n = 360), resulting in lowered protein expression and distinct enzymatic activity. Both the association for rs10044354 (meta-analysis: odds ratio (OR) [95% CI]=2.07[1.58-2.71], P = 1.24 × 10(-7)) and rs2287987 (OR[95% CI]: =2.01[1.51-2.67], P = 1.41 × 10(-6)) replicated and showed consistent direction of effect in an independent Spanish cohort of 46 cases and 2103 controls. In both cohorts, the combined rs2287987-rs10044354 haplotype associated with Birdshot more strongly than either variant alone [meta-analysis: P=3.9 × 10(-9)]. Finally, we observed that ERAP2 protein expression is dependent on the ERAP1 background across three European populations (n = 3353). In conclusion, a functionally distinct combination of ERAP1 and ERAP2 are a hallmark of Birdshot and provide rationale for strategies designed to correct ERAP function for treatment of Birdshot and MHC-I-opathies more broadly. Keyword: Aminopeptidases; Biological Sciences; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetics & Heredity; Genotype; Haplotypes; HLA-A Antigens; Humans; Male; Medical and Health Sciences; Minor Histocompatibility Antigens; Minor Histocompatibility Loci; Polymorphism; Single Nucleotide; Uveitis URL: https://escholarship.org/uc/item/7qp7c94x BASE Hide details 6 Enrichment of genetic markers of recent human evolution in educational and cognitive traits. Srinivasan, Saurabh; Bettella, Francesco; Frei, Oleksandr... In: Scientific reports, vol 8, iss 1 (2018) BASE Show details 7 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Savage, Jeanne E; Jansen, Philip R; Stringer, Sven... In: Nature genetics, vol 50, iss 7 (2018) BASE Show details 8 Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018). Lam, Max; Trampush, Joey W; Yu, Jin... In: Twin research and human genetics : the official journal of the International Society for Twin Studies, vol 21, iss 5 (2018) BASE Show details 9 Global genetic differentiation of complex traits shaped by natural selection in humans. Guo, J.; Wu, Y.; Zhu, Z.... In: Nature communications, vol. 9, no. 1, pp. 1865 (2018) BASE Show details 10 GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. Trampush, JW; Yang, MLZ; Yu, J... In: Molecular psychiatry, vol 22, iss 3 (2017) BASE Show details 11 AD-LIBS: inferring ancestry across hybrid genomes using low-coverage sequence data. Schaefer, Nathan K; Shapiro, Beth; Green, Richard E In: BMC bioinformatics, vol 18, iss 1 (2017) BASE Show details 12 A Neolithic expansion, but strong genetic structure, in the independent history of New Guinea. ... Bergström, Anders; Oppenheimer, Stephen J; Mentzer, Alexander J. - : Apollo - University of Cambridge Repository, 2017 BASE Show details 13 An ancient selective sweep linked to reproductive life history evolution in sockeye salmon Veale, Andrew; Russello, M.A.. - : Nature Publishing Group, 2017 BASE Show details 14 An ancient selective sweep linked to reproductive life history evolution in sockeye salmon Veale, Andrew; Russello, M.A.. - : Nature Publishing Group, 2017 BASE Show details 15 A Neolithic expansion, but strong genetic structure, in the independent history of New Guinea Bergström, A; Oppenheimer, SJ; Mentzer, AJ. - 2017 BASE Show details 16 Global Genomic Epidemiology of Salmonella enterica Serovar Typhimurium DT104. Leekitcharoenphon, Pimlapas; Hendriksen, Rene S; Le Hello, Simon... In: ISSN: 0099-2240 ; EISSN: 1098-5336 ; Applied and Environmental Microbiology ; https://hal-pasteur.archives-ouvertes.fr/pasteur-01421019 ; Applied and Environmental Microbiology, American Society for Microbiology, 2016, 82 (8), pp.2516-26. ⟨10.1128/AEM.03821-15⟩ (2016) BASE Show details 17 Coevolution of genes and languages and high levels of population structure among the highland populations of Daghestan. Karafet, Tatiana M; Bulayeva, Kazima B; Nichols, Johanna... In: Journal of human genetics, vol 61, iss 3 (2016) BASE Show details 18 Fine-Scale Human Population Structure in Southern Africa Reflects Ecogeographic Boundaries. Uren, Caitlin; Kim, Minju; Martin, Alicia R... In: Genetics, vol 204, iss 1 (2016) BASE Show details 19 Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children. Eicher, John D; Montgomery, Angela M; Akshoomoff, Natacha... In: Brain imaging and behavior, vol 10, iss 1 (2016) BASE Show details 20 Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children. Eicher, John D; Montgomery, Angela M; Akshoomoff, Natacha... In: Brain imaging and behavior, vol 10, iss 1 (2016) BASE Show details Page: 1 2 3 4

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