{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:27:57Z","timestamp":1777436877162,"version":"3.51.4"},"reference-count":29,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,7,4]],"date-time":"2018-07-04T00:00:00Z","timestamp":1530662400000},"content-version":"vor","delay-in-days":184,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2018,1]]},"DOI":"10.1016\/j.ajhg.2017.12.009","type":"journal-article","created":{"date-parts":[[2018,1,4]],"date-time":"2018-01-04T11:39:33Z","timestamp":1515065973000},"page":"188-195","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":64,"title":["Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation"],"prefix":"10.1016","volume":"102","author":[{"given":"Bobby G.","family":"Ng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gege","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nandini","family":"Chandy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joan","family":"Steyermark","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepali N.","family":"Shinde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly","family":"Radtke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimiyo","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlito B.","family":"Lebrilla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"AlAsmari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon F.","family":"Suchy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z\u00f6e","family":"Powis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eissa Ali","family":"Faqeih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan A.","family":"Berry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David F.","family":"Kronn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hudson H.","family":"Freeze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2017.12.009_bib1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1146\/annurev-neuro-071714-034019","article-title":"Neurological aspects of human glycosylation disorders","volume":"38","author":"Freeze","year":"2015","journal-title":"Annu. Rev. Neurosci."},{"key":"10.1016\/j.ajhg.2017.12.009_bib2","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s10545-017-0050-6","article-title":"What is new in CDG?","volume":"40","author":"Jaeken","year":"2017","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ajhg.2017.12.009_bib3","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1093\/glycob\/cwx034","article-title":"Biological functions of fucose in mammals","volume":"27","author":"Schneider","year":"2017","journal-title":"Glycobiology"},{"key":"10.1016\/j.ajhg.2017.12.009_bib4","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/0304-4165(81)90238-5","article-title":"Synthesis of L-fucose in thyroid tissue","volume":"675","author":"Overton","year":"1981","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2017.12.009_bib5","doi-asserted-by":"crossref","first-page":"41R","DOI":"10.1093\/glycob\/cwg054","article-title":"Fucose: biosynthesis and biological function in mammals","volume":"13","author":"Becker","year":"2003","journal-title":"Glycobiology"},{"key":"10.1016\/j.ajhg.2017.12.009_bib6","doi-asserted-by":"crossref","first-page":"3107","DOI":"10.1021\/bi00685a011","article-title":"Fucosyl-glycoprotein and precursor polls in HeLa cells","volume":"14","author":"Yurchenco","year":"1975","journal-title":"Biochemistry"},{"key":"10.1016\/j.ajhg.2017.12.009_bib7","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.200203125","article-title":"Conditional control of selectin ligand expression and global fucosylation events in mice with a targeted mutation at the FX locus","volume":"158","author":"Smith","year":"2002","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2017.12.009_bib8","doi-asserted-by":"crossref","first-page":"35596","DOI":"10.1074\/jbc.274.50.35596","article-title":"Reconstitution, identification, and purification of the rat liver golgi membrane GDP-fucose transporter","volume":"274","author":"Puglielli","year":"1999","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2017.12.009_bib9","doi-asserted-by":"crossref","first-page":"15791","DOI":"10.1073\/pnas.0507375102","article-title":"Dysregulation of TGF-beta1 receptor activation leads to abnormal lung development and emphysema-like phenotype in core fucose-deficient mice","volume":"102","author":"Wang","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2017.12.009_bib10","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/S0304-3835(03)00383-5","article-title":"Expression of alpha1,6-fucosyltransferase (FUT8) in papillary carcinoma of the thyroid: its linkage to biological aggressiveness and anaplastic transformation","volume":"200","author":"Ito","year":"2003","journal-title":"Cancer Lett."},{"key":"10.1016\/j.ajhg.2017.12.009_bib11","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1016\/j.ccell.2017.05.007","article-title":"A Systems Biology Approach Identifies FUT8 as a Driver of Melanoma Metastasis","volume":"31","author":"Agrawal","year":"2017","journal-title":"Cancer Cell"},{"key":"10.1016\/j.ajhg.2017.12.009_bib12","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s10719-015-9648-9","article-title":"Acute phase inflammation is characterized by rapid changes in plasma\/peritoneal fluid N-glycosylation in mice","volume":"33","author":"Rombouts","year":"2016","journal-title":"Glycoconj. J."},{"key":"10.1016\/j.ajhg.2017.12.009_bib13","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.pan.2016.01.004","article-title":"Specific increase in serum core-fucosylated haptoglobin in patients with chronic pancreatitis","volume":"16","author":"Ueda","year":"2016","journal-title":"Pancreatology"},{"key":"10.1016\/j.ajhg.2017.12.009_bib14","doi-asserted-by":"crossref","first-page":"2596","DOI":"10.4049\/jimmunol.1402678","article-title":"Core fucosylation of IgG B cell receptor is required for antigen recognition and antibody production","volume":"194","author":"Li","year":"2015","journal-title":"J.\u00a0Immunol."},{"key":"10.1016\/j.ajhg.2017.12.009_bib15","doi-asserted-by":"crossref","first-page":"1620","DOI":"10.1053\/j.gastro.2016.03.002","article-title":"Core Fucosylation on T Cells, Required for Activation of T-Cell Receptor Signaling and Induction of Colitis in Mice, Is Increased in Patients With Inflammatory Bowel Disease","volume":"150","author":"Fujii","year":"2016","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ajhg.2017.12.009_bib16","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/ng0501-69","article-title":"The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter","volume":"28","author":"L\u00fchn","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2017.12.009_bib17","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/ng0501-73","article-title":"Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency","volume":"28","author":"L\u00fcbke","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2017.12.009_bib18","doi-asserted-by":"crossref","first-page":"3976","DOI":"10.1182\/blood.V94.12.3976","article-title":"Correction of leukocyte adhesion deficiency type II with oral fucose","volume":"94","author":"Marquardt","year":"1999","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2017.12.009_bib19","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1182\/blood-2008-01-132035","article-title":"Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II\/congenital disorder of glycosylation IIc","volume":"112","author":"Yakubenia","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2017.12.009_bib20","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.ajhg.2013.04.022","article-title":"Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease","volume":"92","author":"Li","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2017.12.009_bib21","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1086\/498879","article-title":"Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype","volume":"78","author":"Sparrow","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2017.12.009_bib22","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1084\/jem.136.1.197","article-title":"Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts","volume":"136","author":"Zielke","year":"1972","journal-title":"J.\u00a0Exp. Med."},{"key":"10.1016\/j.ajhg.2017.12.009_bib23","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1093\/glycob\/cwl079","article-title":"Crystal structure of mammalian alpha1,6-fucosyltransferase, FUT8","volume":"17","author":"Ihara","year":"2007","journal-title":"Glycobiology"},{"key":"10.1016\/j.ajhg.2017.12.009_bib24","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1016\/j.bbagen.2012.08.018","article-title":"Donor substrate binding and enzymatic mechanism of human core \u03b11,6-fucosyltransferase (FUT8)","volume":"1820","author":"K\u00f6tzler","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2017.12.009_bib25","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1002\/bit.20151","article-title":"Establishment of FUT8 knockout Chinese hamster ovary cells: an ideal host cell line for producing completely defucosylated antibodies with enhanced antibody-dependent cellular cytotoxicity","volume":"87","author":"Yamane-Ohnuki","year":"2004","journal-title":"Biotechnol. Bioeng."},{"key":"10.1016\/j.ajhg.2017.12.009_bib26","doi-asserted-by":"crossref","first-page":"7754","DOI":"10.1021\/acs.analchem.5b01340","article-title":"A Method for In-Depth Structural Annotation of Human Serum Glycans That Yields Biological Variations","volume":"87","author":"Song","year":"2015","journal-title":"Anal. Chem."},{"key":"10.1016\/j.ajhg.2017.12.009_bib27","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1093\/glycob\/cwx041","article-title":"Enterocyte glycosylation is responsive to changes in extracellular conditions: implications for membrane functions","volume":"27","author":"Park","year":"2017","journal-title":"Glycobiology"},{"key":"10.1016\/j.ajhg.2017.12.009_bib28","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1093\/glycob\/cwp016","article-title":"Comparative analysis of core-fucose-binding lectins from Lens culinaris and Pisum sativum using frontal affinity chromatography","volume":"19","author":"Tateno","year":"2009","journal-title":"Glycobiology"},{"key":"10.1016\/j.ajhg.2017.12.009_bib29","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1093\/jb\/mvp022","article-title":"Requirement of Fut8 for the expression of vascular endothelial growth factor receptor-2: a new mechanism for the emphysema-like changes observed in Fut8-deficient mice","volume":"145","author":"Wang","year":"2009","journal-title":"J.\u00a0Biochem."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929717304986?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929717304986?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:15:35Z","timestamp":1757574935000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929717304986"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["S0002929717304986"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2017.12.009","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2018,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2017.12.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}