{"id":"https://openalex.org/W4231079233","doi":"https://doi.org/10.3181/00379727-220-44359","title":"Survival and Lung Pathology of Mouse Models of Hermansky- Pudlak Syndrome and Chediak-Higashi Syndrome","display_name":"Survival and Lung Pathology of Mouse Models of Hermansky- Pudlak Syndrome and Chediak-Higashi Syndrome","publication_year":1999,"publication_date":"1999-03-01","ids":{"openalex":"https://openalex.org/W4231079233","doi":"https://doi.org/10.3181/00379727-220-44359"},"language":"en","primary_location":{"id":"doi:10.3181/00379727-220-44359","doi":"https://doi.org/10.3181/00379727-220-44359","is_oa":false,"landing_page_url":"https://doi.org/10.3181/00379727-220-44359","pdf_url":null,"source":{"id":"https://openalex.org/S67514239","display_name":"Experimental Biology and Medicine","issn_l":"0071-3384","issn":["0071-3384","1535-3699","1535-3702"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Experimental Biology and Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj"],"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/A5109860296","display_name":"McGarry Mp","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":"M. P. McGarry","raw_affiliation_strings":["Departments of Laboratory Animal Resources, Roswell Park Cancer Institute, Buffalo, New York 14263"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Laboratory Animal Resources, Roswell Park Cancer Institute, Buffalo, New York 14263","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079083882","display_name":"M Reddington","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":"M. Reddington","raw_affiliation_strings":["Departments of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113434363","display_name":"E. K. Nov\u00e1k","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":"E. K. Novak","raw_affiliation_strings":["Departments of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"last","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":"R. T. Swank","raw_affiliation_strings":["Departments of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263","institution_ids":["https://openalex.org/I1292894508"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1292894508"],"apc_list":{"value":2950,"currency":"USD","value_usd":2950},"apc_paid":null,"fwci":0.6787,"has_fulltext":false,"cited_by_count":17,"citation_normalized_percentile":{"value":0.68238731,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"220","issue":"3","first_page":"162","last_page":"168"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.7645999789237976,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.7645999789237976,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10617","display_name":"Cellular transport and secretion","score":0.08560000360012054,"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":0.02239999920129776,"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/hermansky-pudlak-syndrome","display_name":"Hermansky-Pudlak syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/chediak-higashi-syndrome","display_name":"Chediak-Higashi syndrome","score":1.0},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.8169999718666077},{"id":"https://openalex.org/keywords/lifespan","display_name":"lifespan","score":0.5879999995231628},{"id":"https://openalex.org/keywords/pulmonary-pathology","display_name":"lung pathology","score":0.7089999914169312},{"id":"https://openalex.org/keywords/lung-histomorphology","display_name":"lung histomorphology","score":0.8939999938011169},{"id":"https://openalex.org/keywords/lysosomal-biogenesis","display_name":"lysosomal biogenesis","score":0.7379999756813049},{"id":"https://openalex.org/keywords/melanosomes","display_name":"melanosomes","score":0.8899999856948853},{"id":"https://openalex.org/keywords/platelet-dense-granules","display_name":"platelet dense granules","score":0.9819999933242798},{"id":"https://openalex.org/keywords/premature-mortality","display_name":"premature mortality","score":0.3400000035762787}],"concepts":[{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.7239120006561279},{"id":"https://openalex.org/C2779778433","wikidata":"https://www.wikidata.org/wiki/Q1506216","display_name":"Hermansky\u2013Pudlak syndrome","level":4,"score":0.7082557082176208},{"id":"https://openalex.org/C2775902910","wikidata":"https://www.wikidata.org/wiki/Q81867","display_name":"Albinism","level":2,"score":0.6344331502914429},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6014536619186401},{"id":"https://openalex.org/C2776070026","wikidata":"https://www.wikidata.org/wiki/Q934034","display_name":"Ch\u00e9diak\u2013Higashi syndrome","level":2,"score":0.6006535291671753},{"id":"https://openalex.org/C2777714996","wikidata":"https://www.wikidata.org/wiki/Q7886","display_name":"Lung","level":2,"score":0.5781404972076416},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5239441394805908},{"id":"https://openalex.org/C94435474","wikidata":"https://www.wikidata.org/wiki/Q1065756","display_name":"Melanosome","level":3,"score":0.514714777469635},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.3555406332015991},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3194352090358734},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.311872661113739},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2481553554534912},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2139679491519928},{"id":"https://openalex.org/C2781244666","wikidata":"https://www.wikidata.org/wiki/Q32446","display_name":"Pulmonary fibrosis","level":3,"score":0.09303867816925049},{"id":"https://openalex.org/C107538193","wikidata":"https://www.wikidata.org/wiki/Q187526","display_name":"Melanin","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.3181/00379727-220-44359","doi":"https://doi.org/10.3181/00379727-220-44359","is_oa":false,"landing_page_url":"https://doi.org/10.3181/00379727-220-44359","pdf_url":null,"source":{"id":"https://openalex.org/S67514239","display_name":"Experimental Biology and Medicine","issn_l":"0071-3384","issn":["0071-3384","1535-3699","1535-3702"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Experimental Biology and Medicine","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2098842465","https://openalex.org/W2131550182","https://openalex.org/W2009758559","https://openalex.org/W1996740553","https://openalex.org/W7099449023","https://openalex.org/W2011441484","https://openalex.org/W1954675413","https://openalex.org/W1550555606","https://openalex.org/W2332897472","https://openalex.org/W2153762311"],"abstract_inverted_index":{"Hermansky-Pudlak":[0],"Syndrome":[1,55],"(HPS),":[2],"a":[3,71],"recessively":[4],"inherited":[5],"disease":[6,24],"in":[7,27,70,97,105,146,157,169,183],"humans,":[8],"affects":[9],"the":[10,13,52,86,98,115,123,129,136,147,158,191,194,197,206],"biosynthesis/processing":[11],"of":[12,186,188,190,199,209],"related":[14,53],"intracellular":[15],"organelles:":[16],"lysosomes,":[17],"melanosomes,":[18],"and":[19,30,65,79,85,108,118,125,149,161,175],"platelet":[20],"dense":[21],"granules.":[22],"The":[23,101],"is":[25],"multigenic":[26],"both":[28,106],"humans":[29],"mice":[31],"where":[32],"14":[33],"separate":[34],"genes":[35,127],"have":[36,58],"been":[37,223],"demonstrated":[38],"to":[39,90,205,219],"be":[40],"causative.":[41],"Patients":[42,50],"often":[43],"die":[44],"prematurely":[45],"with":[46,51,133],"severe":[47],"lung":[48,66,109,200,215],"abnormalities.":[49],"Chediak-Higashi":[54],"(CHS)":[56],"likewise":[57],"significantly":[59],"reduced":[60,145],"life":[61,131,153],"spans.":[62],"Long-term":[63],"survival":[64,208],"histomorphology":[67],"were":[68,142,155,167,181],"analyzed":[69],"pilot":[72],"experiment":[73],"involving":[74],"several":[75,189],"genetically":[76],"defined":[77],"singly":[78],"doubly":[80,112],"mutant":[81,89],"mouse":[82,99],"HPS":[83,227],"mutants":[84,102,163],"beige":[87,148],"CHS":[88],"determine":[91],"whether":[92],"these":[93,210],"parameters":[94],"are":[95],"altered":[96],"models.":[100],"differed":[103],"widely":[104],"longevity":[107],"architecture.":[110],"Mice":[111],"homozygous":[113],"for":[114,122,225],"pale":[116],"ear":[117],"ruby":[119,170],"eye":[120],"or":[121],"muted":[124],"pearl":[126],"had":[128],"shortest":[130],"spans":[132,141,154],"none":[134],"surviving":[135],"two-year":[137],"experimental":[138],"duration.":[139],"Life":[140],"similarly":[143],"severely":[144],"gunmetal":[150],"mutants.":[151,177,192],"Intermediate":[152],"apparent":[156],"pearl,":[159],"pallid,":[160],"cocoa":[162,176],"whereas":[164],"minimal":[165],"effects":[166],"noted":[168,182],"eye,":[171],"muted,":[172],"light":[173],"ear,":[174],"Enlarged":[178],"air":[179],"spaces":[180],"histologic":[184],"sections":[185],"lungs":[187],"For":[193],"most":[195],"part,":[196],"severity":[198],"abnormalities":[201],"was":[202],"inversely":[203],"proportional":[204],"long-term":[207],"various":[211],"mutants,":[212],"suggesting":[213],"that":[214],"pathology":[216],"may":[217],"contribute":[218],"mortality,":[220],"as":[221],"has":[222],"suggested":[224],"human":[226],"patients.":[228]},"counts_by_year":[{"year":2019,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2022-05-11T00:00:00"}
