{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:42:22Z","timestamp":1790170942236,"version":"4.1.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000912","name":"March of Dimes","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000912","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1016\/j.ymgme.2017.05.018","type":"journal-article","created":{"date-parts":[[2017,5,31]],"date-time":"2017-05-31T04:32:22Z","timestamp":1496205142000},"page":"1-3","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Modifier genes: Moving from pathogenesis to therapy"],"prefix":"10.1016","volume":"122","author":[{"given":"Edward R.B.","family":"McCabe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2017.05.018_bb0005","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1086\/302938","article-title":"Phenotypes of patients with \u201csimple\u201d Mendelian disorders are complex traits: thresholds, modifiers and systems dynamics","volume":"66","author":"Dipple","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0010","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1006\/mgme.2000.3052","article-title":"Modifiers: genes and environment","volume":"71","author":"Dipple","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0015","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1006\/mgme.2001.3227","article-title":"Systems dynamics: biological networks","volume":"74","author":"Dipple","year":"2001","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0020","doi-asserted-by":"crossref","DOI":"10.1111\/febs.14080","article-title":"The background puzzle: how identical mutations in the same gene lead to different disease symptoms","author":"Kammenga","year":"2017","journal-title":"FEBS J."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0025","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1111\/nyas.13285","article-title":"New views on the selection acting on genetic polymorphism in central metabolic genes","volume":"1389","author":"Eanes","year":"2017","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0030","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.semcancer.2016.11.007","article-title":"Regulatory roles of epigenetic modulators, modifiers and mediators in lung cancer","volume":"42","author":"Shi","year":"2017","journal-title":"Semin. Cancer Biol."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0035","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1086\/430799","article-title":"Single-gene disorders: what role could moonlighting enzymes play?","volume":"76","author":"Sriram","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0040","doi-asserted-by":"crossref","first-page":"631639","DOI":"10.1016\/0092-8674(93)90484-8","article-title":"Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse","volume":"75","author":"Dietrich","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.ymgme.2017.05.018_bb0045","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.4161\/cc.10.7.15089","article-title":"Identification of Mom12 and Mom13, two novel modifier loci of APCMin-mediated intestinal tumorigenesis","volume":"10","author":"Crist","year":"2011","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ymgme.2017.05.018_bb0050","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1093\/carcin\/bgs185","article-title":"Identification of five novel modifier loci of ApcMin harbored in the BXH14 recombinant inbred strain","volume":"33","author":"Nnadi","year":"2012","journal-title":"Carcinogenesis"},{"key":"10.1016\/j.ymgme.2017.05.018_bb0055","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/j.1538-7836.2007.02325.x","article-title":"Genetic regulation of plasma von Willebrand factor levels: quantitative trait loci analysis in a mouse model","volume":"5","author":"Lemmerhirt","year":"2007","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0060","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1538-7836.2009.03411.x","article-title":"Mouse models of von Willebrand disease","volume":"7","author":"Pendu","year":"2009","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0065","doi-asserted-by":"crossref","first-page":"5368","DOI":"10.1182\/blood-2009-07-233213","article-title":"Modifiers of von Willebrand factor identified by natural variation in inbred strains of mice","volume":"114","author":"Shavit","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2017.05.018_bb0070","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1038\/ejhg.2015.222","article-title":"Genome-wide association studies identify genetic loci for low von Willebrand factor levels","volume":"24","author":"van Loon","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0075","doi-asserted-by":"crossref","first-page":"269","DOI":"10.2174\/138920210791233054","article-title":"Modifiers of hearing impairment in humans and mice","volume":"11","author":"Yan","year":"2010","journal-title":"Curr. Genomics"},{"key":"10.1016\/j.ymgme.2017.05.018_bb0080","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1002\/ar.22579","article-title":"Genetics of hearing and deafness","volume":"295","author":"Angeli","year":"2012","journal-title":"Anat. Rec."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0085","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/jnc.13532","article-title":"Cellular and molecular modifier pathways in tauopathies: the big picture from screening invertebrate models","volume":"137","author":"Hannan","year":"2016","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0090","doi-asserted-by":"crossref","first-page":"e1006680","DOI":"10.1371\/journal.pgen.1006680","article-title":"Comparison of independent screens on differentially vulnerable motor neurons reveals alpha-synuclein as a common modifier in motor neuron diseases","volume":"13","author":"Kline","year":"2017","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0095","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.ymgmr.2016.07.003","article-title":"Barriers to drug adherence in the treatment of urea cycle disorders: assessment of patient, caregiver and provider perspectives","volume":"8","author":"Shchelochkov","year":"2016","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0100","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1007\/s10545-006-0239-6","article-title":"Limitations of enzyme replacement therapy: current and future","volume":"29","author":"Wraith","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0105","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1186\/s13023-016-0544-6","article-title":"Aspartylglucosaminuria: a review","volume":"11","author":"Arvio","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0110","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.ymgmr.2017.01.011","article-title":"Clinical characteristics of adult patients with inborn errors of metabolism in Spain: a review of 500 cases from university hospitals","volume":"10","author":"P\u00e9rez-L\u00f3pez","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0115","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2174\/2213988501711010001","article-title":"Targeting Wolman disease and cholesterol ester storage disease: disease pathogenesis and therapeutic development","volume":"11","author":"Aguisanda","year":"2017","journal-title":"Curr. Chem. Genomics Transl. Med."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0120","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nbt.3514","article-title":"Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases","volume":"34","author":"Chen","year":"2016","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0125","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.ajhg.2016.07.014","article-title":"The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype","volume":"99","author":"Hosseinibarkooie","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0130","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2017.05.018_bb0135","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1056\/NEJMoa1308223","article-title":"PLS3 mutations in X-linked osteoporosis with fractures","volume":"369","author":"van Dijk","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0140","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1001172","article-title":"Conserved genes act as modifiers of invertebrate SMN loss of function defects","volume":"6","author":"Dimitriadi","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0145","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1126\/science.354.6317.1217","article-title":"When DNA and culture clash - Saudi Arabia is making a big push into human genomics, hoping to prevent inherited diseases","volume":"354","author":"Kaiser","year":"2016","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2017.05.018_bb0150","first-page":"10","article-title":"News in brief \u2013 around the world \u2013 drug approved for deadly disease","volume":"355","author":"Anonymous","year":"2017","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2017.05.018_bb0155","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1016\/j.ajhg.2016.08.023","article-title":"Association study of exon variants in the NF-\u03baB and TGF\u03b2 pathways identifies CD40 as a modifier of Duchenne muscular dystrophy","volume":"99","author":"Bello","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0160","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1002\/phar.1909","article-title":"Advances in the treatment of Duchenne muscular dystrophy: new and emerging pharmacotherapies","volume":"37","author":"Reinig","year":"2017","journal-title":"Pharmacotherapy"},{"key":"10.1016\/j.ymgme.2017.05.018_bb0165","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/s004390100545","article-title":"Glycerol kinase deficiency: evidence for complexity in a single gene disorder","volume":"109","author":"Dipple","year":"2001","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0170","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1086\/302903","article-title":"Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait","volume":"66","author":"Gaudet","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0175","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1038\/nm780","article-title":"A futile metabolic cycle activated in adipocytes by antidiabetic agents","volume":"8","author":"Guan","year":"2002","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymgme.2017.05.018_bb0180","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1016\/j.metabol.2005.04.015","article-title":"The effects of thiazolidinedione treatment on the regulations of aquaglyceroporins and glycerol kinase in OLETF rats","volume":"54","author":"Lee","year":"2005","journal-title":"Metabolism"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217302482?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217302482?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T04:59:31Z","timestamp":1535777971000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217302482"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":36,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["S1096719217302482"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.05.018","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Modifier genes: Moving from pathogenesis to therapy","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.05.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}