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Genetic effects on gene expression across human tissues.
GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lead analysts:; Laboratory, Data Analysis &Coordinating Center (LDACC):; NIH program management:; Biospecimen collection:; Pathology:; eQTL manuscript working group:; Battle A, Brown CD, Engelhardt BE, Montgomery SB. GTEx Consortium, et al. Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277. Nature. 2017. PMID: 29022597 Free PMC article.
Drug-associated adverse events in the treatment of multidrug-resistant tuberculosis: an individual patient data meta-analysis.
Lan Z, Ahmad N, Baghaei P, Barkane L, Benedetti A, Brode SK, Brust JCM, Campbell JR, Chang VWL, Falzon D, Guglielmetti L, Isaakidis P, Kempker RR, Kipiani M, Kuksa L, Lange C, Laniado-Laborín R, Nahid P, Rodrigues D, Singla R, Udwadia ZF, Menzies D; Collaborative Group for the Meta-Analysis of Individual Patient Data in MDR-TB treatment 2017. Lan Z, et al. Lancet Respir Med. 2020 Apr;8(4):383-394. doi: 10.1016/S2213-2600(20)30047-3. Epub 2020 Mar 17. Lancet Respir Med. 2020. PMID: 32192585 Free PMC article.
These drugs are associated with numerous adverse events that can cause severe morbidity, such as deafness, and in some instances can lead to death. Our aim was to estimate the absolute and relative frequency of adverse events associated with different tuberculosis drugs to …
These drugs are associated with numerous adverse events that can cause severe morbidity, such as deafness, and in some instances can lead …
Meta-analysis fine-mapping is often miscalibrated at single-variant resolution.
Kanai M, Elzur R, Zhou W; Global Biobank Meta-analysis Initiative; Daly MJ, Finucane HK. Kanai M, et al. Cell Genom. 2022 Dec 14;2(12):100210. doi: 10.1016/j.xgen.2022.100210. Epub 2022 Nov 4. Cell Genom. 2022. PMID: 36643910 Free PMC article.
These predicted suspicious loci are significantly depleted for having nonsynonymous variants as lead variant (2.7; Fisher's exact p = 7.3 10(-4)). We find limited evidence of fine-mapping improvement in the GBMI meta-analyses compared with individual biobanks. ...
These predicted suspicious loci are significantly depleted for having nonsynonymous variants as lead variant (2.7; Fisher's exact p = …
Human pancreatic capillaries and nerve fibers persist in type 1 diabetes despite beta cell loss.
Richardson TM, Saunders DC, Haliyur R, Shrestha S, Cartailler JP, Reinert RB, Petronglo J, Bottino R, Aramandla R, Bradley AM, Jenkins R, Phillips S, Kang H; Human Pancreas Analysis Program; Caicedo A, Powers AC, Brissova M. Richardson TM, et al. Am J Physiol Endocrinol Metab. 2023 Mar 1;324(3):E251-E267. doi: 10.1152/ajpendo.00246.2022. Epub 2023 Jan 25. Am J Physiol Endocrinol Metab. 2023. PMID: 36696598 Free PMC article.
Because beta cells provide important paracrine cues for islet glucagon secretion and neurovascular development, we postulated that beta cell loss in type 1 diabetes (T1D) would lead to a decline in intraislet capillaries and reduction of islet innervation, possibly contrib …
Because beta cells provide important paracrine cues for islet glucagon secretion and neurovascular development, we postulated that beta cell …
Identifying Foods That Optimize Intake of Key Micronutrients During Pregnancy.
Sauder KA, Cohen CC, Mueller NT, Hockett CW, Switkowski KM, Maldonado LE, Lyall K, Kerver JM, Dabelea D, O'Connor TG, Glueck DH, Melough MM, Couzens GL, Catellier DJ; program collaborators for Environmental influences on Child Health Outcomes; ECHO Components—Coordinating Center; Smith PB, Newby KL, Benjamin DK; Data Analysis Center; ECHO Awardees and Cohorts. Sauder KA, et al. J Nutr. 2023 Oct;153(10):3012-3022. doi: 10.1016/j.tjnut.2023.08.012. Epub 2023 Aug 19. J Nutr. 2023. PMID: 37604382
Genetic variants for head size share genes and pathways with cancer.
Knol MJ, Poot RA, Evans TE, Satizabal CL, Mishra A, Sargurupremraj M, van der Auwera S, Duperron MG, Jian X, Hostettler IC, van Dam-Nolen DHK, Lamballais S, Pawlak MA, Lewis CE, Carrion-Castillo A, van Erp TGM, Reinbold CS, Shin J, Scholz M, Håberg AK, Kämpe A, Li GHY, Avinun R, Atkins JR, Hsu FC, Amod AR, Lam M, Tsuchida A, Teunissen MWA, Aygün N, Patel Y, Liang D, Beiser AS, Beyer F, Bis JC, Bos D, Bryan RN, Bülow R, Caspers S, Catheline G, Cecil CAM, Dalvie S, Dartigues JF, DeCarli C, Enlund-Cerullo M, Ford JM, Franke B, Freedman BI, Friedrich N, Green MJ, Haworth S, Helmer C, Hoffmann P, Homuth G, Ikram MK, Jack CR Jr, Jahanshad N, Jockwitz C, Kamatani Y, Knodt AR, Li S, Lim K, Longstreth WT, Macciardi F; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium; Mäkitie O, Mazoyer B, Medland SE, Miyamoto S, Moebus S, Mosley TH, Muetzel R, Mühleisen TW, Nagata M, Nakahara S, Palmer ND, Pausova Z, Preda A, Quidé Y, Reay WR, Roshchupkin GV, Schmidt R, Schreiner PJ, Setoh K, Shapland CY, Sidney S, St Pourcain B, Stein JL, Tabara Y, Teumer A, Uhlmann A, van der Lugt A, Vernooij MW, We… See abstract for full author list ➔ Knol MJ, et al. Cell Rep Med. 2024 May 21;5(5):101529. doi: 10.1016/j.xcrm.2024.101529. Epub 2024 May 3. Cell Rep Med. 2024. PMID: 38703765
Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways. Genes harboring lead variants are enriched for macrocephaly syndrome genes (37-fold) and high-fidelity cancer genes (9-fold), which is not seen for human height variants. ...
Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways. Genes harboring lead variants are …
Birth outcomes in relation to neighborhood food access and individual food insecurity during pregnancy in the Environmental Influences on Child Health Outcomes (ECHO)-wide cohort study.
Aris IM, Lin PD, Wu AJ, Dabelea D, Lester BM, Wright RJ, Karagas MR, Kerver JM, Dunlop AL, Joseph CL, Camargo CA Jr, Ganiban JM, Schmidt RJ, Strakovsky RS, McEvoy CT, Hipwell AE, O'Shea TM, McCormack LA, Maldonado LE, Niu Z, Ferrara A, Zhu Y, Chehab RF, Kinsey EW, Bush NR, Nguyen RH, Carroll KN, Barrett ES, Lyall K, Sims-Taylor LM, Trasande L, Biagini JM, Breton CV, Patti MA, Coull B, Amutah-Onukagha N, Hacker MR, James-Todd T, Oken E; program collaborators for Environmental Influences on Child Health Outcomes, ECHO components—Coordinating Center; Data Analysis Center; Person-Reported Outcomes Core; ECHO Awardees and Cohorts. Aris IM, et al. Am J Clin Nutr. 2024 May;119(5):1216-1226. doi: 10.1016/j.ajcnut.2024.02.022. Epub 2024 Mar 1. Am J Clin Nutr. 2024. PMID: 38431121
Proteogenomic Characterization of Ovarian HGSC Implicates Mitotic Kinases, Replication Stress in Observed Chromosomal Instability.
McDermott JE, Arshad OA, Petyuk VA, Fu Y, Gritsenko MA, Clauss TR, Moore RJ, Schepmoes AA, Zhao R, Monroe ME, Schnaubelt M, Tsai CF, Payne SH, Huang C, Wang LB, Foltz S, Wyczalkowski M, Wu Y, Song E, Brewer MA, Thiagarajan M, Kinsinger CR, Robles AI, Boja ES, Rodriguez H, Chan DW, Zhang B, Zhang Z, Ding L, Smith RD, Liu T, Rodland KD; Clinical Proteomic Tumor Analysis Consortium. McDermott JE, et al. Cell Rep Med. 2020 Apr 21;1(1):100004. doi: 10.1016/j.xcrm.2020.100004. Epub 2020 Apr 10. Cell Rep Med. 2020. PMID: 32529193 Free PMC article.
Uptake of systematic reviews and meta-analyses based on individual participant data in clinical practice guidelines: descriptive study.
Vale CL, Rydzewska LH, Rovers MM, Emberson JR, Gueyffier F, Stewart LA; Cochrane IPD Meta-analysis Methods Group. Vale CL, et al. BMJ. 2015 Mar 6;350:h1088. doi: 10.1136/bmj.h1088. BMJ. 2015. PMID: 25747860 Free PMC article.
Guideline developers should routinely seek good quality and up to date IPD meta-analyses to inform guidelines. Increased use of IPD meta-analyses could lead to improved guidelines ensuring that routine patient care is based on the most reliable evidence available....
Guideline developers should routinely seek good quality and up to date IPD meta-analyses to inform guidelines. Increased use of IPD meta-ana …
22 results