{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T11:54:25Z","timestamp":1793620465110,"version":"4.5.0"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,11,1]]},"DOI":"10.1093\/ndt\/14.11.2639","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:37:35Z","timestamp":1027708655000},"page":"2639-2644","source":"Crossref","is-referenced-by-count":71,"title":["Hereditary renal amyloidosis associated with variant lysozyme in a large English family"],"prefix":"10.1093","volume":"14","author":[{"given":"Julian D.","family":"Gillmore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Booth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Madhoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark B.","family":"Pepys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip N.","family":"Hawkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[1999,11]]},"reference":[{"key":"key\n\t\t\t\t20180203000921_R1","unstructured":"Pepys MB. Amyloidosis. In: Frank MM, Austen KF, Claman HN, Unanue ER, eds. Samter's Immunologic Diseases, 5th edn. Little, Brown & Co, Boston, 1994; 637\u2013655"},{"key":"key\n\t\t\t\t20180203000921_R2","doi-asserted-by":"crossref","unstructured":"Jones LA, Harding JA, Cohen AS, Skinner M. New USA family has apolipoprotein AI (Arg26) variant. In: Natvig JB, F\u00f8rre \u00d8, Husby G et al., eds. Amyloid and Amyloidosis 1990. Kluwer Academic Publishers, Dordrecht, 1991, 385\u2013388","DOI":"10.1007\/978-94-011-3284-8_97"},{"key":"key\n\t\t\t\t20180203000921_R3","doi-asserted-by":"crossref","unstructured":"Soutar AK, Hawkins PN, Vigushin DM et al. Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. Proc Natl Acad Sci USA1992; 89: 7389\u20137393","DOI":"10.1073\/pnas.89.16.7389"},{"key":"key\n\t\t\t\t20180203000921_R4","unstructured":"Vigushin DM, Gough J, Allan D et al. Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. Q J Med1994; 87: 149\u2013154"},{"key":"key\n\t\t\t\t20180203000921_R5","unstructured":"Booth DR, Tan SY, Booth SE et al. A new apolipoprotein AI variant, Trp50Arg, causes hereditary amyloidosis. QJ Med1995; 88: 695\u2013702"},{"key":"key\n\t\t\t\t20180203000921_R6","doi-asserted-by":"crossref","unstructured":"Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen \u03b1-chain. Nature Genet1993; 3: 252\u2013255","DOI":"10.1038\/ng0393-252"},{"key":"key\n\t\t\t\t20180203000921_R7","doi-asserted-by":"crossref","unstructured":"Uemichi T, Liepnieks JJ, Benson MD. Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest1994; 93: 731\u2013736","DOI":"10.1172\/JCI117027"},{"key":"key\n\t\t\t\t20180203000921_R8","doi-asserted-by":"crossref","unstructured":"Pepys MB, Hawkins PN, Booth DR et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature1993; 362: 553\u2013557","DOI":"10.1038\/362553a0"},{"key":"key\n\t\t\t\t20180203000921_R9","doi-asserted-by":"crossref","unstructured":"Artymiuk PJ, Blake CCF. Refinement of human lysozyme at 1.5\u00c5 resolution analysis of non-bonded and hydrogen-bond interactions. J Mol Biol1981; 152: 737\u2013762","DOI":"10.1016\/0022-2836(81)90125-X"},{"key":"key\n\t\t\t\t20180203000921_R10","doi-asserted-by":"crossref","unstructured":"Booth D, Sunde M, Bellotti V et al. Instability, unfolding, and aggregation of human lysozyme variants underlying amyloid fibrillogenesis. Nature1997; 385: 787\u2013793","DOI":"10.1038\/385787a0"},{"key":"key\n\t\t\t\t20180203000921_R11","unstructured":"Zalin AM, Jones S, Fitch NJS, Ramdsden DB. Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry. Q J Med; 81: 945\u2013956"},{"key":"key\n\t\t\t\t20180203000921_R12","doi-asserted-by":"crossref","unstructured":"Hawkins PN, Pepys MB. Imaging amyloidosis with radiolabelled SAP. Eur J Nucl Med1995; 22: 595\u2013599","DOI":"10.1007\/BF01254559"},{"key":"key\n\t\t\t\t20180203000921_R13","doi-asserted-by":"crossref","unstructured":"Puchtler H, Sweat F, Levine M. On the binding of Congo red by amyloid. J Histochem Cytochem1962; 10: 355\u2013364","DOI":"10.1177\/10.3.355"},{"key":"key\n\t\t\t\t20180203000921_R14","unstructured":"Feest TG, Wallis JP. Familial nephropathic amyloidosis associated with indomethacin responsive fever. Proc EDTA-ERA1985; 21: 683\u2013685"},{"key":"key\n\t\t\t\t20180203000921_R15","unstructured":"Lanham JG, Meltzer ML, de Beer FC, Hughes GRV, Pepys MB. Familial amyloidosis of Ostertag. Q J Med1982; 51: 25\u201332"},{"key":"key\n\t\t\t\t20180203000921_R16","doi-asserted-by":"crossref","unstructured":"Peters CWB, Kruse U, Pollwein R, Grzeschik K-H, Sippel AE. The human lysozyme gene. Sequence organization and chromosomal localization. Eur J Biochem1989; 182: 507\u2013516","DOI":"10.1111\/j.1432-1033.1989.tb14857.x"},{"key":"key\n\t\t\t\t20180203000921_R17","doi-asserted-by":"crossref","unstructured":"Harrison RF, Hawkins PN, Roche WR et al. `Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. Gut1996; 38: 151\u2013152","DOI":"10.1136\/gut.38.1.151"},{"key":"key\n\t\t\t\t20180203000921_R18","doi-asserted-by":"crossref","unstructured":"Benson MD, Uemichi T. Transthyretin amyloidosis. Amyloid. Int J Exp Clin Invest1996; 3: 44\u201356","DOI":"10.3109\/13506129609014354"},{"key":"key\n\t\t\t\t20180203000921_R19","doi-asserted-by":"crossref","unstructured":"Holmgren G, Steen L, Ekstedt J et al. Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet1991; 40: 242\u2013246","DOI":"10.1111\/j.1399-0004.1991.tb03085.x"},{"key":"key\n\t\t\t\t20180203000921_R20","doi-asserted-by":"crossref","unstructured":"Rydh A, Suhr O, Hietala S et al. Serum amyloid P component scintigraphy in familial amyloid polyneuropathy: regression of visceral amyloid following liver transplantation. Eur J Nucl Med1998; 25: 709\u2013713","DOI":"10.1007\/s002590050273"},{"key":"key\n\t\t\t\t20180203000921_R21","doi-asserted-by":"crossref","unstructured":"Persey MR, Booth DR, Booth SE et al. A new deletion mutation of the apolipoprotein AI gene causing hereditary amyloidosis. Clin Sci1996; 90: 33","DOI":"10.1042\/cs090033P"}],"container-title":["Nephrology Dialysis Transplantation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/ndt\/article-pdf\/14\/11\/2639\/23769604\/142639.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T03:46:52Z","timestamp":1583293612000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ndt\/article\/14\/11\/2639\/1807894"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,11,1]]},"references-count":21,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1999,11]]},"published-print":{"date-parts":[[1999,11,1]]}},"URL":"https:\/\/doi.org\/10.1093\/ndt\/14.11.2639","relation":{},"ISSN":["1460-2385","0931-0509"],"issn-type":[{"value":"1460-2385","type":"electronic"},{"value":"0931-0509","type":"print"}],"subject":[],"published-other":{"date-parts":[[1999,11]]},"published":{"date-parts":[[1999,11,1]]}}}