{"id":"https://openalex.org/W1499587166","doi":"https://doi.org/10.1007/s10038-003-0029-z","title":"Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene","display_name":"Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene","publication_year":2003,"publication_date":"2003-05-23","ids":{"openalex":"https://openalex.org/W1499587166","doi":"https://doi.org/10.1007/s10038-003-0029-z","mag":"1499587166","pmid":"https://pubmed.ncbi.nlm.nih.gov/12764676"},"language":"en","primary_location":{"id":"doi:10.1007/s10038-003-0029-z","doi":"https://doi.org/10.1007/s10038-003-0029-z","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10038-003-0029-z","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5066404161","display_name":"Y\u016bk\u014d Fujita","orcid":"https://orcid.org/0000-0002-0781-3237","observed_orcids":["https://orcid.org/0000-0002-0781-3237"]},"institutions":[{"id":"https://openalex.org/I80188885","display_name":"Nippon Medical School","ror":"https://ror.org/00krab219","country_code":"JP","type":"education","lineage":["https://openalex.org/I80188885"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yuko Fujita","raw_affiliation_strings":["Department of Internal Medicine II, Nippon Medical School, Tokyo, Japan","Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine II, Nippon Medical School, Tokyo, Japan","institution_ids":["https://openalex.org/I80188885"]},{"raw_affiliation_string":"Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan","institution_ids":["https://openalex.org/I80188885"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017928696","display_name":"Yoichi Ezura","orcid":"https://orcid.org/0000-0001-6310-4526","observed_orcids":["https://orcid.org/0000-0001-6310-4526"]},"institutions":[{"id":"https://openalex.org/I80188885","display_name":"Nippon Medical School","ror":"https://ror.org/00krab219","country_code":"JP","type":"education","lineage":["https://openalex.org/I80188885"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoichi Ezura","raw_affiliation_strings":["Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan","institution_ids":["https://openalex.org/I80188885"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111534430","display_name":"Mitsuru Emi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I80188885","display_name":"Nippon Medical School","ror":"https://ror.org/00krab219","country_code":"JP","type":"education","lineage":["https://openalex.org/I80188885"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Mitsuru Emi","raw_affiliation_strings":["Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan. memi@nms.ac.jp","Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan. memi@nms.ac.jp","institution_ids":["https://openalex.org/I80188885"]},{"raw_affiliation_string":"Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan","institution_ids":["https://openalex.org/I80188885"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059226043","display_name":"Shuji Ono","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I80188885","display_name":"Nippon Medical School","ror":"https://ror.org/00krab219","country_code":"JP","type":"education","lineage":["https://openalex.org/I80188885"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Shuji Ono","raw_affiliation_strings":["Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan","institution_ids":["https://openalex.org/I80188885"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087096443","display_name":"Daisuke Takada","orcid":"https://orcid.org/0000-0002-9601-7629","observed_orcids":["https://orcid.org/0000-0002-9601-7629"]},"institutions":[{"id":"https://openalex.org/I80188885","display_name":"Nippon Medical School","ror":"https://ror.org/00krab219","country_code":"JP","type":"education","lineage":["https://openalex.org/I80188885"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Daisuke Takada","raw_affiliation_strings":["Department of Internal Medicine II, Nippon Medical School, Tokyo, Japan","Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine II, Nippon Medical School, Tokyo, Japan","institution_ids":["https://openalex.org/I80188885"]},{"raw_affiliation_string":"Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan","institution_ids":["https://openalex.org/I80188885"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091187339","display_name":"Kaneo Takahashi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kaneo Takahashi","raw_affiliation_strings":["Awa Medical Association Hospital, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Awa Medical Association Hospital, Chiba, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073991077","display_name":"Kouhei Uemura","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kouhei Uemura","raw_affiliation_strings":["Awa Medical Association Hospital, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Awa Medical Association Hospital, Chiba, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112657816","display_name":"Yasuhiko Iino","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I80188885","display_name":"Nippon Medical School","ror":"https://ror.org/00krab219","country_code":"JP","type":"education","lineage":["https://openalex.org/I80188885"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yasuhiko Iino","raw_affiliation_strings":["Department of Internal Medicine II, Nippon Medical School, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine II, Nippon Medical School, Tokyo, Japan","institution_ids":["https://openalex.org/I80188885"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111666748","display_name":"Yasuo Katayama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I80188885","display_name":"Nippon Medical School","ror":"https://ror.org/00krab219","country_code":"JP","type":"education","lineage":["https://openalex.org/I80188885"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yasuo Katayama","raw_affiliation_strings":["Department of Internal Medicine II, Nippon Medical School, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine II, Nippon Medical School, Tokyo, Japan","institution_ids":["https://openalex.org/I80188885"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035797354","display_name":"Hideaki Bujo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I159385669","display_name":"Chiba University","ror":"https://ror.org/01hjzeq58","country_code":"JP","type":"education","lineage":["https://openalex.org/I159385669"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hideaki Bujo","raw_affiliation_strings":["Department of Genome Research and Clinical Application, Chiba University Graduate School, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Research and Clinical Application, Chiba University Graduate School, Chiba, Japan","institution_ids":["https://openalex.org/I159385669"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103484910","display_name":"Yasushi Sait\u014d","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I159385669","display_name":"Chiba University","ror":"https://ror.org/01hjzeq58","country_code":"JP","type":"education","lineage":["https://openalex.org/I159385669"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yasushi Saito","raw_affiliation_strings":["Department of Clinical Cell Biology, Chiba University Graduate School, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Cell Biology, Chiba University Graduate School, Chiba, Japan","institution_ids":["https://openalex.org/I159385669"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5111534430"],"corresponding_institution_ids":["https://openalex.org/I80188885"],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":null,"fwci":1.0838,"has_fulltext":false,"cited_by_count":11,"citation_normalized_percentile":{"value":0.79900362,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"48","issue":"6","first_page":"305","last_page":"308"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.9326000213623047,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.9326000213623047,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.030500000342726707,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.009200000204145908,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/hypertriglyceridemia","display_name":"hypertriglyceridemia","score":0.9990000128746033},{"id":"https://openalex.org/keywords/rp1-gene","display_name":"RP1 gene","score":0.8500000238418579},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9229999780654907},{"id":"https://openalex.org/keywords/hdl-cholesterol","display_name":"HDL cholesterol","score":0.9399999976158142},{"id":"https://openalex.org/keywords/ldl-cholesterol","display_name":"LDL cholesterol","score":0.8960000276565552},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.7129999995231628},{"id":"https://openalex.org/keywords/lipid-metabolism","display_name":"lipid metabolism","score":0.6729999780654907},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.7889999747276306}],"concepts":[{"id":"https://openalex.org/C2776919658","wikidata":"https://www.wikidata.org/wiki/Q1467339","display_name":"Hypertriglyceridemia","level":4,"score":0.6670337319374084},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6568459272384644},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5438218712806702},{"id":"https://openalex.org/C2778334786","wikidata":"https://www.wikidata.org/wiki/Q1586270","display_name":"Variation (astronomy)","level":2,"score":0.4709022343158722},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.44054776430130005},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.17795786261558533},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.07134053111076355},{"id":"https://openalex.org/C44870925","wikidata":"https://www.wikidata.org/wiki/Q37547","display_name":"Astrophysics","level":1,"score":0.0},{"id":"https://openalex.org/C2778913445","wikidata":"https://www.wikidata.org/wiki/Q186319","display_name":"Triglyceride","level":3,"score":0.0},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000596","descriptor_name":"Amino Acids","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002784","descriptor_name":"Cholesterol","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008076","descriptor_name":"Cholesterol, HDL","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008078","descriptor_name":"Cholesterol, LDL","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014280","descriptor_name":"Triglycerides","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D015228","descriptor_name":"Hypertriglyceridemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/s10038-003-0029-z","doi":"https://doi.org/10.1007/s10038-003-0029-z","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10038-003-0029-z","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:12764676","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12764676","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 human genetics","raw_type":"Comparative Study"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W138331416","https://openalex.org/W1490490810","https://openalex.org/W1527932829","https://openalex.org/W1576154026","https://openalex.org/W1591134372","https://openalex.org/W1974435250","https://openalex.org/W1979482123","https://openalex.org/W2009357247","https://openalex.org/W2023764479","https://openalex.org/W2029229663","https://openalex.org/W2039826361","https://openalex.org/W2041421438","https://openalex.org/W2049112406","https://openalex.org/W2050833103","https://openalex.org/W2058337694","https://openalex.org/W2071668037","https://openalex.org/W2089067340","https://openalex.org/W2128094487","https://openalex.org/W2149645046"],"related_works":["https://openalex.org/W2119978258","https://openalex.org/W2078154888","https://openalex.org/W2018297303","https://openalex.org/W2154014822","https://openalex.org/W2061304740","https://openalex.org/W2175432265","https://openalex.org/W3008604177","https://openalex.org/W2081587783","https://openalex.org/W2142020606","https://openalex.org/W2169934414"],"abstract_inverted_index":null,"counts_by_year":[{"year":2018,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
