A Next Generation Multiscale View of Inborn Errors of Metabolism.
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Eric E. Schadt | Jun Zhu | Sander M. Houten | E. Schadt | Jun Zhu | C. Argmann | S. Houten | Carmen Argmann
[1] M. Serlie,et al. Obesity activates a program of lysosomal-dependent lipid metabolism in adipose tissue macrophages independently of classic activation. , 2013, Cell metabolism.
[2] D. Jain,et al. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. , 2012, Blood.
[3] Jun S. Liu,et al. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans , 2015, Science.
[4] E. Bézard,et al. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration , 2012, Proceedings of the National Academy of Sciences.
[5] E. Lander,et al. Development and Applications of CRISPR-Cas 9 for Genome Engineering , 2015 .
[6] E. Schadt. Molecular networks as sensors and drivers of common human diseases , 2009, Nature.
[7] Charles F. Bearden,et al. A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk , 2013, Cell.
[8] F. España,et al. Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity , 2013, Human mutation.
[9] A. Lusis,et al. Systems genetics approaches to understand complex traits , 2013, Nature Reviews Genetics.
[10] Taoyong Chen,et al. Late Endosome/Lysosome-Localized Rab7b Suppresses TLR9-Initiated Proinflammatory Cytokine and Type I IFN Production in Macrophages1 , 2009, The Journal of Immunology.
[11] Martin Lindner,et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. , 2003, Pediatrics.
[12] C R Scriver,et al. Monogenic traits are not simple: lessons from phenylketonuria. , 1999, Trends in genetics : TIG.
[13] F. Baas,et al. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. , 2014, Human molecular genetics.
[14] I. Macaulay,et al. Single Cell Genomics: Advances and Future Perspectives , 2014, PLoS genetics.
[15] Eric E. Schadt,et al. Moving toward a system genetics view of disease , 2007, Mammalian Genome.
[16] M. Brown,et al. A receptor-mediated pathway for cholesterol homeostasis. , 1986, Science.
[17] Joshua L. Deignan,et al. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. , 2012, Molecular genetics and metabolism.
[18] Radu Dobrin,et al. Pparγ2 Is a Key Driver of Longevity in the Mouse , 2009, PLoS genetics.
[19] Rachel B. Brem,et al. Stitching together Multiple Data Dimensions Reveals Interacting Metabolomic and Transcriptomic Networks That Modulate Cell Regulation , 2012, PLoS biology.
[20] E. Lander,et al. Development and Applications of CRISPR-Cas9 for Genome Engineering , 2014, Cell.
[21] Robert W. Williams,et al. Systems Genetics of Metabolism: The Use of the BXD Murine Reference Panel for Multiscalar Integration of Traits , 2012, Cell.
[22] Zachary A. King,et al. Constraint-based models predict metabolic and associated cellular functions , 2014, Nature Reviews Genetics.
[23] E R McCabe,et al. Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. , 2001, Molecular genetics and metabolism.
[24] Xia Yang,et al. Integrating pathway analysis and genetics of gene expression for genome-wide association studies. , 2010, American journal of human genetics.
[25] R. Fitzgerald,et al. The '–omics' revolution and oesophageal adenocarcinoma , 2014, Nature Reviews Gastroenterology &Hepatology.
[26] Diego di Bernardo,et al. A Genome-Scale Modeling Approach to Study Inborn Errors of Liver Metabolism: Toward an In Silico Patient , 2013, J. Comput. Biol..
[27] Judy H. Cho,et al. Genome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation , 2012, American journal of hematology.
[28] M. DePamphilis,et al. HUMAN DISEASE , 1957, The Ulster Medical Journal.
[29] S. Horvath,et al. A General Framework for Weighted Gene Co-Expression Network Analysis , 2005, Statistical applications in genetics and molecular biology.
[30] L. Tran,et al. Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease , 2013, Cell.
[31] C. Argmann,et al. Lysosomal Stress in Obese Adipose Tissue Macrophages Contributes to MITF-Dependent Gpnmb Induction , 2014, Diabetes.
[32] Shane J. Neph,et al. Circuitry and Dynamics of Human Transcription Factor Regulatory Networks , 2012, Cell.
[33] G. Cutting. Modifier genes in Mendelian disorders: the example of cystic fibrosis , 2010, Annals of the New York Academy of Sciences.
[34] S. Horvath,et al. Variations in DNA elucidate molecular networks that cause disease , 2008, Nature.
[35] E. McCabe,et al. Modifier genes convert "simple" Mendelian disorders to complex traits. , 2000, Molecular genetics and metabolism.
[36] Rachel B. Brem,et al. Integrating large-scale functional genomic data to dissect the complexity of yeast regulatory networks , 2008, Nature Genetics.
[37] B. Wilcken,et al. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. , 2003, The New England journal of medicine.
[38] S. Dimauro,et al. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia , 2013, Proceedings of the National Academy of Sciences.
[39] N. Novère. Quantitative and logic modelling of molecular and gene networks , 2015, Nature Reviews Genetics.
[40] John D. Storey,et al. Mapping the Genetic Architecture of Gene Expression in Human Liver , 2008, PLoS biology.
[41] Shailesh V. Date,et al. A Probabilistic Functional Network of Yeast Genes , 2004, Science.
[42] E. Génin,et al. Identifying modifier genes of monogenic disease: strategies and difficulties , 2008, Human Genetics.
[43] M. Ritchie,et al. Methods of integrating data to uncover genotype–phenotype interactions , 2015, Nature Reviews Genetics.
[44] C. Argmann,et al. Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects. , 2013, Human molecular genetics.
[45] D. Kurtz,et al. Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[46] J. Auwerx,et al. Mouse phenogenomics: the fast track to "systems metabolism". , 2005, Cell metabolism.
[47] A. Schapira,et al. Glucocerebrosidase mutations and the pathogenesis of Parkinson disease , 2013, Annals of medicine.
[48] John P. Overington,et al. An atlas of genetic influences on human blood metabolites , 2014, Nature Genetics.
[49] George A. Truskey,et al. Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies , 2014, Nature Medicine.
[50] Ronan M. T. Fleming,et al. A community-driven global reconstruction of human metabolism , 2013, Nature Biotechnology.
[51] S. O’Rahilly,et al. Pharmacological Inhibition of Glucosylceramide Synthase Enhances Insulin Sensitivity , 2007, Diabetes.
[52] A. Barabasi,et al. The human disease network , 2007, Proceedings of the National Academy of Sciences.
[53] Evan G. Williams,et al. Multilayered Genetic and Omics Dissection of Mitochondrial Activity in a Mouse Reference Population , 2014, Cell.
[54] J. Schuurs-Hoeijmakers,et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness , 2012, Nature Genetics.
[55] J. Shendure,et al. Exome sequencing as a tool for Mendelian disease gene discovery , 2011, Nature Reviews Genetics.
[56] Robert W. Williams,et al. An informatics approach to systems neurogenetics. , 2007, Methods in molecular biology.
[57] I Knudsen,et al. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. , 2001, American journal of human genetics.
[58] E. Ruppin,et al. Predicting metabolic biomarkers of human inborn errors of metabolism , 2009, Molecular systems biology.
[59] H. Kacser,et al. The molecular basis of dominance. , 1981, Genetics.
[60] Adam D. Kennedy,et al. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism , 2015, Journal of Inherited Metabolic Disease.
[61] Hongyu Zhao,et al. Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice , 2012, Biochemical and Biophysical Research Communications.
[62] Jun Zhu,et al. Increasing the Power to Detect Causal Associations by Combining Genotypic and Expression Data in Segregating Populations , 2007, PLoS Comput. Biol..
[63] H. Lehrach,et al. A Human Protein-Protein Interaction Network: A Resource for Annotating the Proteome , 2005, Cell.
[64] David J. Arenillas,et al. A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease , 2015, Nature Neuroscience.
[65] E R McCabe,et al. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. , 2000, American journal of human genetics.
[66] Yudong D. He,et al. Systems analysis of eleven rodent disease models reveals an inflammatome signature and key drivers , 2012, Molecular systems biology.
[67] H. Vernon. Inborn Errors of Metabolism: Advances in Diagnosis and Therapy. , 2015, JAMA pediatrics.
[68] Nicola Brunetti-Pierri,et al. Inborn errors of metabolism: the flux from Mendelian to complex diseases , 2006, Nature Reviews Genetics.
[69] G. Lettre. The search for genetic modifiers of disease severity in the β-hemoglobinopathies. , 2012, Cold Spring Harbor perspectives in medicine.
[70] H. Stefánsson,et al. Genetics of gene expression and its effect on disease , 2008, Nature.
[71] V. Mootha,et al. Targeted exome sequencing of suspected mitochondrial disorders , 2013, Neurology.
[72] A E Garrod,et al. The incidence of alkaptonuria: a study in chemical individuality. 1902. , 1996, Molecular medicine.
[73] J. Castle,et al. An integrative genomics approach to infer causal associations between gene expression and disease , 2005, Nature Genetics.
[74] J. Haldane. The relative importance of principal and modifying genes in determining some human diseases , 1941 .
[75] Hongyu Zhao,et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage , 2010, Proceedings of the National Academy of Sciences.
[76] Réka Albert,et al. Boolean modeling: a logic‐based dynamic approach for understanding signaling and regulatory networks and for making useful predictions , 2014, Wiley interdisciplinary reviews. Systems biology and medicine.
[77] Justin Guinney,et al. Predictive Genes in Adjacent Normal Tissue Are Preferentially Altered by sCNV during Tumorigenesis in Liver Cancer and May Rate Limiting , 2011, PloS one.
[78] D. Thorburn,et al. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. , 2003, Brain : a journal of neurology.
[79] M. Langeveld,et al. Modulation of glycosphingolipid metabolism significantly improves hepatic insulin sensitivity and reverses hepatic steatosis in mice , 2009, Hepatology.
[80] David C. Wilson,et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease , 2012, Nature.
[81] A. Garrod. The Incidence of Alkaptonuria: A study in Chemical Individuality , 1996, Nutrition reviews.
[82] N LeNovère. Quantitative and logic modelling of molecular and gene networks. , 2015 .
[83] Neema Jamshidi,et al. Systems biology of SNPs , 2006, Molecular systems biology.
[84] Stephen H. Friend,et al. Clues from the resilient , 2014, Science.
[85] Gang Wang,et al. Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies , 2014 .
[86] Rui Chang,et al. Causal Inference in Biology Networks with Integrated Belief Propagation , 2014, Pacific Symposium on Biocomputing.
[87] Marni J. Falk,et al. Primary Respiratory Chain Disease Causes Tissue-Specific Dysregulation of the Global Transcriptome and Nutrient-Sensing Signaling Network , 2013, PloS one.
[88] Peter K. Sorger,et al. Logic-Based Models for the Analysis of Cell Signaling Networks† , 2010, Biochemistry.
[89] Joshua D. Campbell,et al. Integrative Analysis of DNA Methylation and Gene Expression Data Identifies EPAS1 as a Key Regulator of COPD , 2015, PLoS genetics.
[90] S. Ferdinandusse,et al. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 , 2015, American journal of human genetics.
[91] Tao Xie,et al. Inferring causal genomic alterations in breast cancer using gene expression data , 2011, BMC Systems Biology.
[92] Eric E. Schadt,et al. Evolving toward a human-cell based and multiscale approach to drug discovery for CNS disorders , 2014, Front. Pharmacol..
[93] Edward R B McCabe,et al. Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity. , 2006, Human molecular genetics.
[94] M. Schilsky,et al. Genetic Modifiers of Liver Injury in Hereditary Liver Disease , 2011, Seminars in liver disease.
[95] J. Lupski,et al. Clan Genomics and the Complex Architecture of Human Disease , 2011, Cell.
[96] Shinya Yamanaka,et al. iPS cells: a game changer for future medicine , 2014, The EMBO journal.
[97] H. Baris,et al. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. , 2014, Pediatric endocrinology reviews : PER.
[98] M. Gerstein,et al. A Bayesian Networks Approach for Predicting Protein-Protein Interactions from Genomic Data , 2003, Science.
[99] S. Gallati. The Application of Clinical Genetics Dovepress Disease-modifying Genes and Monogenic Disorders: Experience in Cystic Fibrosis , 2022 .
[100] A. Arnold,et al. Tissue-specific expression and regulation of sexually dimorphic genes in mice. , 2006, Genome research.
[101] A. Suomalainen,et al. Next‐generation sequencing for mitochondrial disorders , 2014, British journal of pharmacology.
[102] A. Rudensky,et al. The lysosomal cysteine proteases in MHC class II antigen presentation , 2005, Immunological reviews.
[103] T. Taddei,et al. Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. , 2013, Critical reviews in oncogenesis.
[104] P. Mistry,et al. Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. , 2002, Molecular genetics and metabolism.
[105] Marni J. Falk,et al. Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction. , 2014, The international journal of biochemistry & cell biology.
[106] B. Kollerits,et al. Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations , 2012, European Journal of Human Genetics.
[107] J. Zhu,et al. An integrative genomics approach to the reconstruction of gene networks in segregating populations , 2004, Cytogenetic and Genome Research.