Rare variant associations with plasma protein levels in the UK Biobank
暂无分享,去创建一个
J. Harrow | R. Dhindsa | I. Tachmazidou | A. Harper | M. Pangalos | D. Muthas | Meeta Maisuria-Armer | A. Zehir | H. Runz | A. Raies | Quanli Wang | Z. Lai | B. Dougherty | E. Michaëlsson | V. Hristova | C. Haefliger | Maria Ryaboshapkina | M. Hammar | G. Lassi | Z. Fairhurst-Hunter | H. Olsson | Fengyuan Hu | D. Vitsios | Katherine R Smith | Kieren T. Lythgow | Sebastian Wasilewski | X. R. Ros | A. Walentinsson | E. Oerton | Y. Ohne | Christopher D. Whelan | R. F. Danielson | Xiao Jiang | A. Platt | B. Challis | A. Reznichenko | Coralie Viollet | Kousik Kundu | Carl Barrett | Maria Belvisi | Suzanne Cohen | Andrew Davis | B. Georgi | Carla Martins | Zoe Zou | L. Cazares | B. Sun | Niedzica Camacho | Mohammad Bohlooly-Y | Mike Snowden | Euan A. Ashley | A. O'Neill | S. Petrovski | Qing-Dong Wang | Ruth March | Abhishek Nag | William Rae | Bram P Prins | Eleanor Wheeler | K. Carss | Jonathan Mitchell | Mark Lal | Ben Sidders | Dirk S. Paul | Pernille B. L. Hansen | S. V. Deevi | Oliver Burren | Haeyam Taiy | Margarete A. Fabre | D. Matelska | Rasmus Lauren Santosh David Carl Maria Mohammad Lisa Nied Ågren Anderson-Dring Atanur Baker Barrett | Rasmus Ågren | Lauren Anderson-Dring | Santosh Atanur | David Baker | Lisa Buvall | Sophia Cameron-Christie | Morris Chen | Shikta Das | Wei Ding | M. Garg | Carmen Guerrero Rangel | Richard N. Hanna | Ian Henry | Sonja Hess | Ben Hollis | Yupu Liang | Margarida Lopes | Stewart MacArthur | Karine Megy | Rob Menzies | Fiona Middleton | Bill Mowrey | Sean O’Dell | K. Ostridge | Benjamin Pullman | Hitesh Sanganee | Stasa Stankovic | Helen Stevens | Lifeng Tian | Christina Underwood
[1] Benjamin B. Sun,et al. Plasma proteomic associations with genetics and health in the UK Biobank , 2023, Nature.
[2] B. Ebert,et al. Clonal haematopoiesis and dysregulation of the immune system , 2023, Nature Reviews Immunology.
[3] N. Stitziel,et al. SVEP1 is an endogenous ligand for the orphan receptor PEAR1 , 2023, Nature Communications.
[4] R. Dhindsa,et al. Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank , 2023, American journal of human genetics.
[5] Elena A. Westeinde,et al. The gut commensal Blautia maintains colonic mucus function under low-fiber consumption through secretion of short-chain fatty acids , 2022, bioRxiv.
[6] Thomas Leibing,et al. Targeting of Scavenger Receptors Stabilin-1 and Stabilin-2 Ameliorates Atherosclerosis by a Plasma Proteome Switch Mediating Monocyte/Macrophage Suppression , 2022, Circulation.
[7] D. M. Smith,et al. Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes , 2022, Science advances.
[8] Dereje D. Jima,et al. Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies , 2022, American journal of human genetics.
[9] James E. DiCarlo,et al. A minimal role for synonymous variation in human disease , 2022, bioRxiv.
[10] Jianzhi Zhang,et al. Synonymous mutations in representative yeast genes are mostly strongly non-neutral , 2022, Nature.
[11] Bjarni V. Halldórsson,et al. Large-scale integration of the plasma proteome with genetics and disease , 2021, Nature Genetics.
[12] E. Zeggini,et al. Mapping the serum proteome to neurological diseases using whole genome sequencing , 2021, Nature Communications.
[13] Michael E. Hall,et al. Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease , 2021, Circulation.
[14] Aidan N. Gomez,et al. Disease variant prediction with deep generative models of evolutionary data , 2021, Nature.
[15] E. Gamazon,et al. Mapping the proteo-genomic convergence of human diseases , 2021, Science.
[16] Sri V. V. Deevi,et al. Rare variant contribution to human disease in 281,104 UK Biobank exomes , 2021, Nature.
[17] Stefan Enroth,et al. Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability , 2021, Nature Communications.
[18] Dominic Winter,et al. Targeted Quantification of the Lysosomal Proteome in Complex Samples , 2021, Proteomes.
[19] Astrid Gall,et al. Ensembl 2021 , 2020, Nucleic Acids Res..
[20] Alexander E. Lopez,et al. Exome sequencing and characterization of 49,960 individuals in the UK Biobank , 2020, Nature.
[21] J. Danesh,et al. Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals , 2020, Nature Metabolism.
[22] M. McCarthy,et al. Genetics meets proteomics: perspectives for large population-based studies , 2020, Nature reviews. Genetics.
[23] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[24] Dominic Winter,et al. Comprehensive draft of the mouse embryonic fibroblast lysosomal proteome by mass spectrometry based proteomics , 2020, Scientific Data.
[25] R. Larson,et al. Gilteritinib or Chemotherapy for Relapsed or Refractory FLT3-Mutated AML. , 2019, The New England journal of medicine.
[26] D. Goldstein,et al. Rare-variant collapsing analyses for complex traits: guidelines and applications , 2019, Nature Reviews Genetics.
[27] Mark R. Hurle,et al. Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases , 2019, bioRxiv.
[28] P. Donnelly,et al. The UK Biobank resource with deep phenotyping and genomic data , 2018, Nature.
[29] Ivan K. Chinn,et al. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. , 2018, American journal of human genetics.
[30] Paolo Vineis,et al. Prediction of acute myeloid leukaemia risk in healthy individuals , 2018, Nature.
[31] Stephen Burgess,et al. Genomic atlas of the human plasma proteome , 2018, Nature.
[32] Alexander E. Lopez,et al. A Protein‐Truncating HSD17B13 Variant and Protection from Chronic Liver Disease , 2018, The New England journal of medicine.
[33] R. Skoda,et al. A Gain‐of‐Function Mutation in EPO in Familial Erythrocytosis , 2018, The New England journal of medicine.
[34] Matthew Collin,et al. Human dendritic cell subsets: an update , 2018, Immunology.
[35] Chunlei Liu,et al. ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..
[36] Jake Siegel,et al. Genetics of trans-regulatory variation in gene expression , 2017, bioRxiv.
[37] David J Balding,et al. Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation , 2017, Genome research.
[38] Matthew Traylor,et al. ukbtools: An R package to manage and query UK Biobank data , 2017, bioRxiv.
[39] D. Goldstein,et al. An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis , 2017, American journal of respiratory and critical care medicine.
[40] C. Bloomfield,et al. Midostaurin plus Chemotherapy for Acute Myeloid Leukemia with a FLT3 Mutation , 2017, The New England journal of medicine.
[41] S. Gabriel,et al. Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease , 2017, The New England journal of medicine.
[42] S. Kornfeld,et al. Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy , 2017, Molecular therapy. Methods & clinical development.
[43] Trevor Hastie,et al. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. , 2016, American journal of human genetics.
[44] Brent S. Pedersen,et al. Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy , 2016, bioRxiv.
[45] D. Goldstein,et al. Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine , 2016, Genome Biology.
[46] Tanya M. Teslovich,et al. Prosaposin is a regulator of progranulin levels and oligomerization , 2016, Nature Communications.
[47] Piero Carninci,et al. A draft network of ligand–receptor-mediated multicellular signalling in human , 2015, Nature Communications.
[48] P. Elliott,et al. UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age , 2015, PLoS medicine.
[49] E. Meffre,et al. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation , 2014, Nature Genetics.
[50] D. Altshuler,et al. Validating therapeutic targets through human genetics , 2013, Nature Reviews Drug Discovery.
[51] A. Sivachenko,et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples , 2013, Nature Biotechnology.
[52] G. Abecasis,et al. Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. , 2012, American journal of human genetics.
[53] Katherine R. Smith,et al. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. , 2012, American journal of human genetics.
[54] M. Prata,et al. Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction. , 2012, Molecular genetics and metabolism.
[55] S. Goerdt,et al. Deficiency of liver sinusoidal scavenger receptors stabilin-1 and -2 in mice causes glomerulofibrotic nephropathy via impaired hepatic clearance of noxious blood factors. , 2011, The Journal of clinical investigation.
[56] Josyf Mychaleckyj,et al. Robust relationship inference in genome-wide association studies , 2010, Bioinform..
[57] H. Kantarjian,et al. Outcome of patients with FLT3-mutated acute myeloid leukemia in first relapse. , 2010, Leukemia research.
[58] S. Melquist,et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 , 2006, Nature.
[59] Alan Aderem,et al. Cytoplasmic flagellin activates caspase-1 and secretion of interleukin 1β via Ipaf , 2006, Nature Immunology.
[60] D. Wishart,et al. DrugBank: a comprehensive resource for in silico drug discovery and exploration , 2005, Nucleic Acids Res..
[61] R. Eddy,et al. Comparative structure, proximal promoter elements, and chromosome location of the human eosinophil major basic protein genes. , 2001, Genomics.
[62] B. Roe,et al. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) , 2000, The Journal of clinical investigation.
[63] M. Colonna,et al. Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells. , 1995, Science.
[64] M. Ratajczak,et al. STK-1, the human homolog of Flk-2/Flt-3, is selectively expressed in CD34+ human bone marrow cells and is involved in the proliferation of early progenitor/stem cells. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[65] K. Kretz,et al. Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[66] G. Gleich,et al. Activation of basophil and mast cell histamine release by eosinophil granule major basic protein , 1983, The Journal of experimental medicine.
[67] Fenghua Hu,et al. Frontotemporal lobar degeneration (FTLD) is the most prevalent early-onset dementia after Alzheimer’s disease (AD) and accounts for 20–25% of pre-senile dementias , 2017 .
[68] E. Kelly,et al. an update on , 2014 .
[69] C. Schaefer,et al. 20.453j / 2.771j / Hst.958j Biomedical Information Technology Pid: the Pathway Interaction Database , 2022 .
[70] Pablo Cingolani,et al. © 2012 Landes Bioscience. Do not distribute. , 2022 .
[71] Carol J. Bult,et al. The Mouseion at the JAXlibrary , 2022 .