{"id":"https://openalex.org/W2145839143","doi":"https://doi.org/10.1017/s001667230001404x","title":"Pigmentation and lysosome function in mice homozygous for both pale ear and Beige-J pigment genes","display_name":"Pigmentation and lysosome function in mice homozygous for both pale ear and Beige-J pigment genes","publication_year":1980,"publication_date":"1980-04-01","ids":{"openalex":"https://openalex.org/W2145839143","doi":"https://doi.org/10.1017/s001667230001404x","mag":"2145839143","pmid":"https://pubmed.ncbi.nlm.nih.gov/7390156"},"language":"en","primary_location":{"id":"doi:10.1017/s001667230001404x","doi":"https://doi.org/10.1017/s001667230001404x","is_oa":true,"landing_page_url":"https://doi.org/10.1017/s001667230001404x","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/33D6E930D2149F7780B94BA47EA1B78B/S001667230001404Xa.pdf/div-class-title-pigmentation-and-lysosome-function-in-mice-homozygous-for-both-pale-ear-and-beige-j-pigment-genes-div.pdf","source":{"id":"https://openalex.org/S31188771","display_name":"Genetics Research","issn_l":"0016-6723","issn":["0016-6723","1469-5073"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetical Research","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/33D6E930D2149F7780B94BA47EA1B78B/S001667230001404Xa.pdf/div-class-title-pigmentation-and-lysosome-function-in-mice-homozygous-for-both-pale-ear-and-beige-j-pigment-genes-div.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111817506","display_name":"Edward K. Novak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1292894508","display_name":"Roswell Park Comprehensive Cancer Center","ror":"https://ror.org/0499dwk57","country_code":"US","type":"facility","lineage":["https://openalex.org/I1292894508"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Edward K. Novak","raw_affiliation_strings":["Department of Molecular Biology, Roswell Park Memorial Institute, 666 Elm Street, Buffalo, N.Y. 14263"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Roswell Park Memorial Institute, 666 Elm Street, Buffalo, N.Y. 14263","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113525248","display_name":"Richard T. Swank","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1292894508","display_name":"Roswell Park Comprehensive Cancer Center","ror":"https://ror.org/0499dwk57","country_code":"US","type":"facility","lineage":["https://openalex.org/I1292894508"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard T. Swank","raw_affiliation_strings":["Department of Molecular Biology, Roswell Park Memorial Institute, 666 Elm Street, Buffalo, N.Y. 14263"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Roswell Park Memorial Institute, 666 Elm Street, Buffalo, N.Y. 14263","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5070868538","display_name":"Miriam H. Meisler","orcid":"https://orcid.org/0000-0001-9107-706X","observed_orcids":["https://orcid.org/0000-0001-9107-706X"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Miriam H. Meisler","raw_affiliation_strings":["Department of Human Genetics, The University of Michigan, 1137 East Catherine Street, Ann Arbor, Michigan 48109"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, The University of Michigan, 1137 East Catherine Street, Ann Arbor, Michigan 48109","institution_ids":["https://openalex.org/I27837315"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2100,"currency":"USD","value_usd":2100},"apc_paid":null,"fwci":0.5529,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.70309891,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"35","issue":"2","first_page":"195","last_page":"204"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10617","display_name":"Cellular transport and secretion","score":0.5127000212669373,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T10617","display_name":"Cellular transport and secretion","score":0.5127000212669373,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T11144","display_name":"melanin and skin pigmentation","score":0.15880000591278076,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.07569999992847443,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/lysosome-function","display_name":"lysosomal function","score":0.5189999938011169},{"id":"https://openalex.org/keywords/gene-dosage-effect","display_name":"gene dosage effect","score":0.7889999747276306},{"id":"https://openalex.org/keywords/genetic-interactions","display_name":"genetic interactions","score":0.7910000085830688},{"id":"https://openalex.org/keywords/pigmentation","display_name":"pigmentation","score":0.6039999723434448},{"id":"https://openalex.org/keywords/mouse-mutants","display_name":"mouse mutants","score":0.3540000021457672}],"concepts":[{"id":"https://openalex.org/C2780216420","wikidata":"https://www.wikidata.org/wiki/Q83330","display_name":"Lysosome","level":3,"score":0.9227589964866638},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.7123326063156128},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6775921583175659},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6303331851959229},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.48965054750442505},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.44633516669273376},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.44536417722702026},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4110545516014099},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3734084963798523},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.34806108474731445},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.2899221181869507},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.14024782180786133}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003433","descriptor_name":"Crosses, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008817","descriptor_name":"Mice, Mutant Strains","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012880","descriptor_name":"Skin Pigmentation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1017/s001667230001404x","doi":"https://doi.org/10.1017/s001667230001404x","is_oa":true,"landing_page_url":"https://doi.org/10.1017/s001667230001404x","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/33D6E930D2149F7780B94BA47EA1B78B/S001667230001404Xa.pdf/div-class-title-pigmentation-and-lysosome-function-in-mice-homozygous-for-both-pale-ear-and-beige-j-pigment-genes-div.pdf","source":{"id":"https://openalex.org/S31188771","display_name":"Genetics Research","issn_l":"0016-6723","issn":["0016-6723","1469-5073"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetical Research","raw_type":"journal-article"},{"id":"pmid:7390156","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7390156","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":"Genetical research","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1017/s001667230001404x","doi":"https://doi.org/10.1017/s001667230001404x","is_oa":true,"landing_page_url":"https://doi.org/10.1017/s001667230001404x","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/33D6E930D2149F7780B94BA47EA1B78B/S001667230001404Xa.pdf/div-class-title-pigmentation-and-lysosome-function-in-mice-homozygous-for-both-pale-ear-and-beige-j-pigment-genes-div.pdf","source":{"id":"https://openalex.org/S31188771","display_name":"Genetics Research","issn_l":"0016-6723","issn":["0016-6723","1469-5073"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetical Research","raw_type":"journal-article"},"sustainable_development_goals":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G433459935","display_name":null,"funder_award_id":"24872","funder_id":"https://openalex.org/F4320332505","funder_display_name":"U.S. Public Health Service"},{"id":"https://openalex.org/G7481591237","display_name":"Lysosome Dysfunctions in Mouse Pigment Mutants","funder_award_id":"7724804","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320332505","display_name":"U.S. Public Health Service","ror":"https://ror.org/05xf94514"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2145839143.pdf","grobid_xml":"https://content.openalex.org/works/W2145839143.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W103780378","https://openalex.org/W224430140","https://openalex.org/W610395147","https://openalex.org/W1485459446","https://openalex.org/W1504875849","https://openalex.org/W1542684606","https://openalex.org/W1545599844","https://openalex.org/W1545668557","https://openalex.org/W1554818979","https://openalex.org/W1577694634","https://openalex.org/W1598127149","https://openalex.org/W1601246294","https://openalex.org/W1603160641","https://openalex.org/W1929450009","https://openalex.org/W1973086259","https://openalex.org/W1987481173","https://openalex.org/W1997555641","https://openalex.org/W2037569891","https://openalex.org/W2038801459","https://openalex.org/W2055056979","https://openalex.org/W2070760584","https://openalex.org/W2145536990","https://openalex.org/W2149328732","https://openalex.org/W2151982435","https://openalex.org/W2170162094","https://openalex.org/W2298474227","https://openalex.org/W2315608135","https://openalex.org/W2492441292","https://openalex.org/W4239088370"],"related_works":["https://openalex.org/W2265970150","https://openalex.org/W7099010333","https://openalex.org/W1598857912","https://openalex.org/W2151982435","https://openalex.org/W1504875849","https://openalex.org/W2086747180","https://openalex.org/W2077992862","https://openalex.org/W2044688372","https://openalex.org/W2057918533","https://openalex.org/W1979913266"],"abstract_inverted_index":{"SUMMARY":[0],"We":[1],"have":[2,59],"examined":[3],"mice":[4],"doubly":[5,32],"homozygous":[6,33],"for":[7],"both":[8],"pale":[9,53,105,136,159],"ear":[10,54,106,137,160],"(ep/ep)":[11],"and":[12,28,52,135],"beige":[13,46,94,98,121,134,152],"(bgJ/bgJ)":[14],"mutations":[15],"in":[16,79,162],"order":[17],"to":[18],"detect":[19],"genetic":[20],"interactions":[21],"between":[22],"these":[23,75],"2":[24],"loci":[25],"affecting":[26],"pigmentation":[27,38],"lysosome":[29,144,163],"physiology.":[30,164],"The":[31,45,85,129,148],"mouse":[34],"has":[35,88],"a":[36,115],"new":[37,81,86],"phenotype":[39,87],"consistent":[40],"with":[41],"independent":[42],"effects":[43],"ofepandbg.":[44],"(Brandt,":[47],"Elliott":[48],"&":[49,56],"Swank,":[50,57],"1975)":[51],"(Novak":[55],"1979)genes":[58],"abnormal":[60],"kidney":[61],"lysosomal":[62,109,126],"enzyme":[63,110,127],"accumulation":[64],"caused":[65],"by":[66],"defective":[67],"secretion":[68],"into":[69],"urine.":[70],"No":[71],"cumulative":[72],"effect":[73,102,118],"on":[74,107,123],"functions":[76],"was":[77],"observed":[78],"the":[80,93,97,101,104,120,133,140,151,158],"double":[82],"mutant":[83],"phenotype.":[84,128],"giant":[89],"lysosomes":[90],"typical":[91],"of":[92,103,119,143,150,157],"mutation.":[95],"Unexpectedly,":[96],"gene":[99,116,122,153,161],"corrects":[100],"serum":[108,125],"concentration.":[111],"There":[112],"is":[113],"also":[114],"dosage":[117],"this":[124],"results":[130],"suggest":[131],"that":[132,156],"genes":[138],"affect":[139],"same":[141],"pathway(s)":[142],"biosynthesis":[145],"and/or":[146],"processing.":[147],"action":[149],"may":[154],"precede":[155]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
