{"id":"https://openalex.org/W2561410186","doi":"https://doi.org/10.1681/asn.2016090951","title":"Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype","display_name":"Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype","publication_year":2017,"publication_date":"2017-01-03","ids":{"openalex":"https://openalex.org/W2561410186","doi":"https://doi.org/10.1681/asn.2016090951","mag":"2561410186","pmid":"https://pubmed.ncbi.nlm.nih.gov/28049649","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5280032"},"language":"en","primary_location":{"id":"doi:10.1681/asn.2016090951","doi":"https://doi.org/10.1681/asn.2016090951","is_oa":false,"landing_page_url":"https://doi.org/10.1681/asn.2016090951","pdf_url":null,"source":{"id":"https://openalex.org/S115693375","display_name":"Journal of the American Society of Nephrology","issn_l":"1046-6673","issn":["1046-6673","1533-3450"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315620","host_organization_name":"American Society of Nephrology","host_organization_lineage":["https://openalex.org/P4310315620"],"host_organization_lineage_names":["American Society of Nephrology"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Society of Nephrology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5280032","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5112962813","display_name":"Samih H. Nasr","orcid":"https://orcid.org/0000-0002-5542-6776","observed_orcids":["https://orcid.org/0000-0002-5542-6776"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Samih H. Nasr","raw_affiliation_strings":["Laboratory Medicine and Pathology,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory Medicine and Pathology,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064721834","display_name":"Surendra Dasari","orcid":"https://orcid.org/0000-0002-7972-3556","observed_orcids":["https://orcid.org/0000-0002-7972-3556"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Surendra Dasari","raw_affiliation_strings":["Health Sciences Research, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Health Sciences Research, and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076599774","display_name":"John R. Mills","orcid":"https://orcid.org/0000-0003-1025-4760","observed_orcids":["https://orcid.org/0000-0003-1025-4760"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"John R. Mills","raw_affiliation_strings":["Laboratory Medicine and Pathology,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory Medicine and Pathology,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084413271","display_name":"Jason David Theis","orcid":"https://orcid.org/0000-0001-7267-8409","observed_orcids":["https://orcid.org/0000-0001-7267-8409"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Jason D. Theis","raw_affiliation_strings":["Laboratory Medicine and Pathology,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory Medicine and Pathology,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054127002","display_name":"Michael T. Zimmermann","orcid":"https://orcid.org/0000-0001-7073-0525","observed_orcids":["https://orcid.org/0000-0001-7073-0525"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michael T. Zimmermann","raw_affiliation_strings":["Health Sciences Research, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Health Sciences Research, and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003015868","display_name":"Rafa\u00ebl Fonseca","orcid":"https://orcid.org/0000-0002-5938-3769","observed_orcids":["https://orcid.org/0000-0002-5938-3769"]},"institutions":[{"id":"https://openalex.org/I4210125099","display_name":"Mayo Clinic in Arizona","ror":"https://ror.org/03jp40720","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210125099"]},{"id":"https://openalex.org/I4210127938","display_name":"Mayo Clinic Hospital","ror":"https://ror.org/03660jn93","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210125099","https://openalex.org/I4210127938"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rafael Fonseca","raw_affiliation_strings":["Department of Internal Medicine, Mayo Clinic in Arizona, Phoenix, Arizona;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Mayo Clinic in Arizona, Phoenix, Arizona;","institution_ids":["https://openalex.org/I4210125099","https://openalex.org/I4210127938"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110421325","display_name":"Julie A. Vrana","orcid":"https://orcid.org/0000-0003-1083-8483","observed_orcids":["https://orcid.org/0000-0003-1083-8483"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Julie A. Vrana","raw_affiliation_strings":["Laboratory Medicine and Pathology,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory Medicine and Pathology,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108877481","display_name":"Steven J. Lester","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210125099","display_name":"Mayo Clinic in Arizona","ror":"https://ror.org/03jp40720","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210125099"]},{"id":"https://openalex.org/I4210127938","display_name":"Mayo Clinic Hospital","ror":"https://ror.org/03660jn93","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210125099","https://openalex.org/I4210127938"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Steven J. Lester","raw_affiliation_strings":["Department of Internal Medicine, Mayo Clinic in Arizona, Phoenix, Arizona;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Mayo Clinic in Arizona, Phoenix, Arizona;","institution_ids":["https://openalex.org/I4210125099","https://openalex.org/I4210127938"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051598200","display_name":"Brooke M. McLaughlin","orcid":"https://orcid.org/0000-0001-9528-9860","observed_orcids":["https://orcid.org/0000-0001-9528-9860"]},"institutions":[{"id":"https://openalex.org/I4210125099","display_name":"Mayo Clinic in Arizona","ror":"https://ror.org/03jp40720","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210125099"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brooke M. McLaughlin","raw_affiliation_strings":["Department of Clinical Genomics, Mayo Clinic in Arizona, Scottsdale, Arizona;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genomics, Mayo Clinic in Arizona, Scottsdale, Arizona;","institution_ids":["https://openalex.org/I4210125099"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054028754","display_name":"Robert L. Gillespie","orcid":"https://orcid.org/0000-0003-1216-0733","observed_orcids":["https://orcid.org/0000-0003-1216-0733"]},"institutions":[{"id":"https://openalex.org/I4210089116","display_name":"Sharp Rees-Stealy Medical Group","ror":"https://ror.org/009erh992","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210089116","https://openalex.org/I4405280159"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert Gillespie","raw_affiliation_strings":["Department of Cardiology, Sharp Rees-Stealy Medical Group, San Diego, California; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Sharp Rees-Stealy Medical Group, San Diego, California; and","institution_ids":["https://openalex.org/I4210089116"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000992961","display_name":"William Edward Highsmith","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"W. Edward Highsmith","raw_affiliation_strings":["Laboratory Medicine and Pathology,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory Medicine and Pathology,","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"John J. Lee","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334972020","display_name":"Sharp Memorial Hospital","ror":"https://ror.org/01gynte55","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334972020","https://openalex.org/I4405280159"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John J. Lee","raw_affiliation_strings":["Department of Pathology, Sharp Memorial Hospital, San Diego, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Sharp Memorial Hospital, San Diego, California","institution_ids":["https://openalex.org/I1334972020"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000308170","display_name":"Angela A. Dispenzieri","orcid":"https://orcid.org/0000-0001-8780-9512","observed_orcids":["https://orcid.org/0000-0001-8780-9512"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Angela Dispenzieri","raw_affiliation_strings":["Laboratory Medicine and Pathology,","Medicine, Mayo Clinic, Rochester, Minnesota;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory Medicine and Pathology,","institution_ids":[]},{"raw_affiliation_string":"Medicine, Mayo Clinic, Rochester, Minnesota;","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5074099210","display_name":"Paul J. Kurtin","orcid":"https://orcid.org/0000-0003-2427-5837","observed_orcids":["https://orcid.org/0000-0003-2427-5837"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Paul J. Kurtin","raw_affiliation_strings":["Laboratory Medicine and Pathology,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory Medicine and Pathology,","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5000308170","https://openalex.org/A5000992961","https://openalex.org/A5074099210","https://openalex.org/A5076599774","https://openalex.org/A5084413271","https://openalex.org/A5110421325","https://openalex.org/A5112962813"],"corresponding_institution_ids":["https://openalex.org/I1330342723"],"apc_list":null,"apc_paid":null,"fwci":1.6328,"has_fulltext":false,"cited_by_count":43,"citation_normalized_percentile":{"value":0.826411,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":98},"biblio":{"volume":"28","issue":"2","first_page":"431","last_page":"438"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11305","display_name":"Amyloidosis: Diagnosis, Treatment, Outcomes","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11305","display_name":"Amyloidosis: Diagnosis, Treatment, Outcomes","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11335","display_name":"Prion Diseases and Protein Misfolding","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/lysozyme-c","display_name":"lysozyme C","score":0.800000011920929},{"id":"https://openalex.org/keywords/hereditary-amyloidosis","display_name":"hereditary amyloidosis","score":0.9240000247955322},{"id":"https://openalex.org/keywords/renal-amyloidosis","display_name":"renal amyloidosis","score":0.8199999928474426},{"id":"https://openalex.org/keywords/cardiac-amyloidosis","display_name":"cardiac amyloidosis","score":0.8100000023841858},{"id":"https://openalex.org/keywords/gastrointestinal-amyloidosis","display_name":"gastrointestinal amyloidosis","score":0.9120000004768372},{"id":"https://openalex.org/keywords/peripheral-neuropathy","display_name":"peripheral neuropathy","score":0.9890000224113464},{"id":"https://openalex.org/keywords/sicca-syndrome","display_name":"sicca syndrome","score":0.8320000171661377},{"id":"https://openalex.org/keywords/congo-red-staining","display_name":"Congo red staining","score":0.6520000100135803},{"id":"https://openalex.org/keywords/molecular-dynamics-simulation","display_name":"molecular dynamics simulation","score":0.7110000252723694},{"id":"https://openalex.org/keywords/protein-aggregation","display_name":"protein aggregation","score":0.6209999918937683}],"concepts":[{"id":"https://openalex.org/C2779951007","wikidata":"https://www.wikidata.org/wiki/Q816798","display_name":"Amyloidosis","level":2,"score":0.5787671804428101},{"id":"https://openalex.org/C2777633098","wikidata":"https://www.wikidata.org/wiki/Q2736051","display_name":"Amyloid (mycology)","level":2,"score":0.5251350402832031},{"id":"https://openalex.org/C2776966407","wikidata":"https://www.wikidata.org/wiki/Q24779410","display_name":"Lysozyme","level":2,"score":0.4636598229408264},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.4625956118106842},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4393846094608307},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4241606295108795},{"id":"https://openalex.org/C2777607188","wikidata":"https://www.wikidata.org/wiki/Q5038315","display_name":"Cardiac amyloidosis","level":3,"score":0.41260966658592224},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3698803782463074},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.36064958572387695},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.33597952127456665},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.24711892008781433},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24286630749702454}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009113","descriptor_name":"Muramidase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D028226","descriptor_name":"Amyloidosis, Familial","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D028226","descriptor_name":"Amyloidosis, Familial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1681/asn.2016090951","doi":"https://doi.org/10.1681/asn.2016090951","is_oa":false,"landing_page_url":"https://doi.org/10.1681/asn.2016090951","pdf_url":null,"source":{"id":"https://openalex.org/S115693375","display_name":"Journal of the American Society of Nephrology","issn_l":"1046-6673","issn":["1046-6673","1533-3450"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315620","host_organization_name":"American Society of Nephrology","host_organization_lineage":["https://openalex.org/P4310315620"],"host_organization_lineage_names":["American Society of Nephrology"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Society of Nephrology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:5280032","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5280032","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Am Soc Nephrol","raw_type":"Text"},{"id":"pmid:28049649","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28049649","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Society of Nephrology : JASN","raw_type":"Case Reports"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:5280032","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5280032","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Am Soc Nephrol","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W1589250757","https://openalex.org/W1965928109","https://openalex.org/W1976632394","https://openalex.org/W2018049268","https://openalex.org/W2018842746","https://openalex.org/W2046882226","https://openalex.org/W2055577816","https://openalex.org/W2059145105","https://openalex.org/W2071493841","https://openalex.org/W2091152149","https://openalex.org/W2099112321","https://openalex.org/W2104473363","https://openalex.org/W2114075554","https://openalex.org/W2122055094","https://openalex.org/W2149520890","https://openalex.org/W2269123435","https://openalex.org/W2421137370","https://openalex.org/W2499497885","https://openalex.org/W2601454759"],"related_works":["https://openalex.org/W2018842746","https://openalex.org/W2965387159","https://openalex.org/W2492009834","https://openalex.org/W4229441653","https://openalex.org/W2055577816","https://openalex.org/W2091152149","https://openalex.org/W2149520890","https://openalex.org/W2020377330","https://openalex.org/W2782227943","https://openalex.org/W2758053512"],"abstract_inverted_index":{"Lysozyme":[0],"amyloidosis":[1,9,55],"(ALys)":[2],"is":[3,25,169],"a":[4,37,109,118],"rare":[5,27],"form":[6],"of":[7,59,83,98,166,175,184,195],"hereditary":[8],"that":[10,152,163],"typically":[11],"manifests":[12],"with":[13,40,56,78,180],"renal":[14,41,86,144],"impairment,":[15,42],"gastrointestinal":[16],"(GI)":[17],"symptoms,":[18,46],"and":[19,28,44,47,62,73,87,105,145],"sicca":[20],"syndrome,":[21],"whereas":[22],"cardiac":[23,43,79],"involvement":[24,58],"exceedingly":[26],"neuropathy":[29],"has":[30],"not":[31],"been":[32],"reported.":[33],"Here,":[34],"we":[35],"describe":[36],"40-year-old":[38],"man":[39],"GI":[45,70,88,146],"peripheral":[48],"neuropathy.":[49],"Renal":[50],"biopsy":[51],"specimen":[52],"analysis":[53,82,150],"revealed":[54],"extensive":[57],"glomeruli,":[60],"vessels,":[61],"medulla.":[63],"Amyloid":[64],"was":[65],"also":[66,136],"detected":[67,91,108,137],"in":[68,102,113,141],"the":[69,99,103,138,142,153,156,164,173,176,185,191,196],"tract.":[71],"Echocardiographic":[72],"electrocardiographic":[74],"findings":[75],"were":[76],"consistent":[77],"involvement.":[80],"Proteomic":[81],"Congo":[84],"red-positive":[85],"amyloid":[89,147],"deposits":[90],"abundant":[92],"lysozyme":[93,100],"C":[94],"protein.":[95,158],"DNA":[96],"sequencing":[97],"gene":[101],"patient":[104],"his":[106],"mother":[107],"heterozygous":[110],"c.305T>C":[111],"alteration":[112],"exon":[114],"3,":[115],"which":[116,188],"causes":[117],"leucine":[119],"to":[120,199],"serine":[121],"substitution":[122],"at":[123],"codon":[124],"102":[125],"(Human":[126],"Genome":[127],"Variation":[128],"Society":[129],"nomenclature:":[130],"p.Leu102Ser;":[131],"legacy":[132],"designation:":[133],"L84S).":[134],"We":[135],"mutant":[139],"peptide":[140],"proband's":[143],"deposits.":[148],"PolyPhen":[149],"predicted":[151],"mutation":[154],"damages":[155],"encoded":[157],"Molecular":[159],"dynamics":[160],"simulations":[161],"suggested":[162],"pathogenesis":[165],"ALys":[167],"p.Leu102Ser":[168],"mediated":[170],"by":[171],"shifting":[172],"position":[174],"central":[177],"\u03b2-hairpin":[178],"coordinated":[179],"an":[181],"antiparallel":[182],"motion":[183],"C-terminal":[186],"helix,":[187],"may":[189],"alter":[190],"native-state":[192],"structural":[193],"ensemble":[194],"molecule,":[197],"leading":[198],"aggregation-prone":[200],"intermediates.":[201]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":4}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2017-01-06T00:00:00"}