{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T14:02:59Z","timestamp":1793109779256,"version":"4.5.0"},"reference-count":27,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Biochemistry"],"published-print":{"date-parts":[[2025,3]]},"DOI":"10.1016\/j.clinbiochem.2025.110877","type":"journal-article","created":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T16:48:32Z","timestamp":1736527712000},"page":"110877","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["KNG1 mutations (c.618\u00a0T\u00a0>\u00a0G and c.1165C\u00a0>\u00a0T) cause disruption of the Cys206-Cys218 disulfide bond and truncation of the D5 domain leading to hereditary high molecular weight kininogen deficiency"],"prefix":"10.1016","volume":"136","author":[{"given":"Xiaoying","family":"Lv","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pingping","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Gui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caili","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunwei","family":"Qi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huaping","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuyong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"13","key":"10.1016\/j.clinbiochem.2025.110877_b0005","doi-asserted-by":"crossref","first-page":"3692","DOI":"10.1182\/blood-2010-11-319053","article-title":"KNG1 Ile581Thr and susceptibility to venous thrombosis","volume":"117","author":"Morange","year":"2011","journal-title":"Blood"},{"issue":"8","key":"10.1016\/j.clinbiochem.2025.110877_b0010","doi-asserted-by":"crossref","first-page":"2401","DOI":"10.1093\/hmg\/ddu732","article-title":"A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study","volume":"24","author":"Weng","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"2","key":"10.1016\/j.clinbiochem.2025.110877_b0015","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/BF00204179","article-title":"The human kininogen gene (KNG) mapped to chromosome 3q26-qter by analysis of somatic cell hybrids using the polymerase chain reaction","volume":"87","author":"Fong","year":"1991","journal-title":"Hum. Genet."},{"issue":"14","key":"10.1016\/j.clinbiochem.2025.110877_b0020","doi-asserted-by":"crossref","first-page":"8610","DOI":"10.1016\/S0021-9258(17)39516-9","article-title":"Structural organization of the human kininogen gene and a model for its evolution","volume":"260","author":"Kitamura","year":"1985","journal-title":"J. Biol. Chem."},{"issue":"2","key":"10.1016\/j.clinbiochem.2025.110877_b0025","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1042\/bj1450401","article-title":"The sialic acid content and isoelectric point of human kininogen","volume":"145","author":"Londesborough","year":"1975","journal-title":"Biochem. J"},{"issue":"4","key":"10.1016\/j.clinbiochem.2025.110877_b0030","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1016\/j.ajhg.2010.02.016","article-title":"Common Variants of Large Effect in F12, KNG1, and HRG Are Associated with Activated Partial Thromboplastin Time","volume":"86","author":"Houlihan","year":"2010","journal-title":"Am. J. Hum. Genet."},{"issue":"8","key":"10.1016\/j.clinbiochem.2025.110877_b0035","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.1161\/ATVBAHA.112.248492","article-title":"A Genome-Wide Association Study Identifies KNG1 as a Genetic Determinant of Plasma Factor XI Level and Activated Partial Thromboplastin Time","volume":"32","author":"Sabater-Lleal","year":"2012","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"issue":"1","key":"10.1016\/j.clinbiochem.2025.110877_b0040","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.jtha.2023.09.027","article-title":"High molecular weight kininogen interactions with the homologs prekallikrein and factor XI: importance to surface-induced coagulation","volume":"22","author":"Mohammed","year":"2024","journal-title":"J. Thromb. Haemost."},{"issue":"4","key":"10.1016\/j.clinbiochem.2025.110877_b0045","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1007\/s11239-020-02088-6","article-title":"Severe high-molecular-weight kininogen deficiency due to a homozygous c.1456C\u2009>\u2009T nonsense variant in a large Chinese family","volume":"50","author":"Yang","year":"2020","journal-title":"J. Thromb. Thrombolysis"},{"issue":"3","key":"10.1016\/j.clinbiochem.2025.110877_b0050","doi-asserted-by":"crossref","first-page":"264","DOI":"10.3343\/alm.2020.40.3.264","article-title":"The First Korean Case of High-Molecular-Weight Kininogen Deficiency, With a Novel Variant, c.488delG, in theKNG1Gene","volume":"40","author":"Jeong","year":"2020","journal-title":"Ann. Lab. Med."},{"issue":"2","key":"10.1016\/j.clinbiochem.2025.110877_b0055","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.jtha.2022.11.011","article-title":"Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency\u2013causing KNG1 variants, and estimated prevalence","volume":"21","author":"Adenaeuer","year":"2023","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.clinbiochem.2025.110877_b0060","doi-asserted-by":"crossref","unstructured":"G.A. Yarovaya, T.B. Blokhina, E.A. Neshkova. Contact system. New concepts on activation mechanisms and bioregulatory functions. Biochemistry-Moscow+ 2002;67(1):13-24. (In English). DOI: Doi 10.1023\/A:1013991828598.","DOI":"10.1023\/A:1013991828598"},{"key":"10.1016\/j.clinbiochem.2025.110877_b0065","doi-asserted-by":"crossref","DOI":"10.3389\/fmed.2018.00066","article-title":"Cell Receptor and Cofactor Interactions of the Contact Activation System and Factor XI","volume":"5","author":"Pathak","year":"2018","journal-title":"Front. Med."},{"issue":"24","key":"10.1016\/j.clinbiochem.2025.110877_b0070","doi-asserted-by":"crossref","DOI":"10.3390\/ijms222413370","article-title":"High Molecular Weight Kininogen: A Review of the Structural Literature","volume":"22","author":"Ponczek","year":"2021","journal-title":"Int. J. Mol. Sci."},{"issue":"31","key":"10.1016\/j.clinbiochem.2025.110877_b0075","doi-asserted-by":"crossref","first-page":"23361","DOI":"10.1016\/S0021-9258(19)49471-4","article-title":"Genetic basis of total kininogen deficiency in Williams' trait","volume":"268","author":"Cheung","year":"1993","journal-title":"J. Biol. Chem."},{"issue":"11","key":"10.1016\/j.clinbiochem.2025.110877_b0080","doi-asserted-by":"crossref","first-page":"5062","DOI":"10.1182\/blood-2006-12-060616","article-title":"Isolated high-molecular-weight kininogen deficiency: a novel frameshift mutation in exon 10","volume":"109","author":"Shigekiyo","year":"2007","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.clinbiochem.2025.110877_b0085","doi-asserted-by":"crossref","first-page":"253","DOI":"10.2169\/internalmedicine.53.0737","article-title":"A novel frameshift mutation in exon 4 causing a deficiency of high-molecular-weight kininogen in a patient with splenic infarction","volume":"53","author":"Fukushima","year":"2014","journal-title":"Intern. Med."},{"issue":"11","key":"10.1016\/j.clinbiochem.2025.110877_b0090","doi-asserted-by":"crossref","first-page":"4430","DOI":"10.1182\/blood-2002-11-3329","article-title":"Characterization of molecular defects of Fitzgerald trait and another novel high-molecular-weight kininogen-deficient patient: insights into structural requirements for kininogen expression","volume":"101","author":"Krijanovski","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.clinbiochem.2025.110877_b0095","doi-asserted-by":"crossref","unstructured":"P.E. Morange, T. Oudot-Mellakh, W. Cohen, et al. KNG1 Ile581Thr and susceptibility to venous thrombosis. Blood 2011;117(13):3692-4. (In eng). DOI: 10.1182\/blood-2010-11-319053.","DOI":"10.1182\/blood-2010-11-319053"},{"issue":"12","key":"10.1016\/j.clinbiochem.2025.110877_b0100","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1111\/all.13869","article-title":"Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin","volume":"74","author":"Bork","year":"2019","journal-title":"Allergy"},{"key":"10.1016\/j.clinbiochem.2025.110877_b0105","doi-asserted-by":"crossref","unstructured":"N. Vionnet, D. Tregou\u00ebt, G. Kazeem, et al. Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations: strongest evidence for association with a variant in the promoter region of the adiponectin gene. Diabetes 2006;55(11):3166-74. (In eng). DOI: 10.2337\/db06-0271.","DOI":"10.2337\/db06-0271"},{"issue":"3","key":"10.1016\/j.clinbiochem.2025.110877_b0110","first-page":"264","article-title":"The First Korean Case of High-Molecular-Weight Kininogen Deficiency, With a Novel Variant, c.488delG, in the KNG1 Gene. Ann","volume":"40","author":"Jeong","year":"2020","journal-title":"Lab. Med."},{"issue":"1","key":"10.1016\/j.clinbiochem.2025.110877_b0115","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1111\/jth.14307","article-title":"Genetic determinants of activity and antigen levels of contact system factors","volume":"17","author":"Rohmann","year":"2019","journal-title":"J. Thromb. Haemost."},{"issue":"1","key":"10.1016\/j.clinbiochem.2025.110877_b0120","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-021-25888-7","article-title":"Identification of the factor XII contact activation site enables sensitive coagulation diagnostics","volume":"12","author":"Heestermans","year":"2021","journal-title":"Nat. Commun."},{"issue":"3","key":"10.1016\/j.clinbiochem.2025.110877_b0125","doi-asserted-by":"crossref","first-page":"e132","DOI":"10.1111\/ijlh.13773","article-title":"Prekallikrein deficiency due to homozygous KLKB1(+) mutation c.444_445insT (p.Ser151PhefsTer34)","volume":"44","author":"Abraham","year":"2022","journal-title":"Int. J. Lab. Hematol."},{"issue":"2","key":"10.1016\/j.clinbiochem.2025.110877_b0130","doi-asserted-by":"crossref","first-page":"e152","DOI":"10.1016\/j.thromres.2010.02.004","article-title":"Automated APTT cycle for the rapid identification of plasma prekallikrein deficiency","volume":"126","author":"Corno","year":"2010","journal-title":"Thromb. Res."},{"issue":"Supplement 1","key":"10.1016\/j.clinbiochem.2025.110877_b0135","doi-asserted-by":"crossref","first-page":"2496","DOI":"10.1182\/blood-2018-99-116030","article-title":"Detection and Differential Diagnosis of Prekallikrein Deficiency: Genetic Study of New Families and Systematic Review of the Literature","volume":"132","author":"Barco","year":"2018","journal-title":"Blood"}],"container-title":["Clinical Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912025000062?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912025000062?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,3,9]],"date-time":"2025-03-09T00:11:12Z","timestamp":1741479072000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009912025000062"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3]]},"references-count":27,"alternative-id":["S0009912025000062"],"URL":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2025.110877","relation":{},"ISSN":["0009-9120"],"issn-type":[{"value":"0009-9120","type":"print"}],"subject":[],"published":{"date-parts":[[2025,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"KNG1 mutations (c.618\u00a0T\u00a0>\u00a0G and c.1165C\u00a0>\u00a0T) cause disruption of the Cys206-Cys218 disulfide bond and truncation of the D5 domain leading to hereditary high molecular weight kininogen deficiency","name":"articletitle","label":"Article Title"},{"value":"Clinical Biochemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2025.110877","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"110877"}}