{"id":"https://openalex.org/W4290793038","doi":"https://doi.org/10.1093/hmg/ddac187","title":"Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration","display_name":"Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration","publication_year":2022,"publication_date":"2022-08-09","ids":{"openalex":"https://openalex.org/W4290793038","doi":"https://doi.org/10.1093/hmg/ddac187","pmid":"https://pubmed.ncbi.nlm.nih.gov/35943778","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9840207"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/ddac187","doi":"https://doi.org/10.1093/hmg/ddac187","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddac187","pdf_url":"https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac187/45739888/ddac187.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac187/45739888/ddac187.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049235887","display_name":"Maura A. Crowley","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Maura A Crowley","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111982059","display_name":"Donita L. Garland","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1287163989","display_name":"Massachusetts Eye and Ear Infirmary","ror":"https://ror.org/04g3dn724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1287163989"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Donita L Garland","raw_affiliation_strings":["Ocular Genomics Institute at Massachusetts Eye and Ear, Harvard Medical School , Boston, MA 02114 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ocular Genomics Institute at Massachusetts Eye and Ear, Harvard Medical School , Boston, MA 02114 , USA","institution_ids":["https://openalex.org/I1287163989","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076724035","display_name":"Holger Sellner","orcid":"https://orcid.org/0000-0002-1052-2043","observed_orcids":["https://orcid.org/0000-0002-1052-2043"]},"institutions":[{"id":"https://openalex.org/I1283582996","display_name":"Novartis (Switzerland)","ror":"https://ror.org/02f9zrr09","country_code":"CH","type":"company","lineage":["https://openalex.org/I1283582996"]},{"id":"https://openalex.org/I4400600974","display_name":"Novartis Institutes for BioMedical Research","ror":"https://ror.org/053gv2m95","country_code":"CH","type":"funder","lineage":["https://openalex.org/I1283582996","https://openalex.org/I4400600974"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Holger Sellner","raw_affiliation_strings":["Global Discovery Chemistry, Novartis Institutes for BioMedical Research , Basel , Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Global Discovery Chemistry, Novartis Institutes for BioMedical Research , Basel , Switzerland","institution_ids":["https://openalex.org/I1283582996","https://openalex.org/I4400600974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028295205","display_name":"Angela Banks","orcid":"https://orcid.org/0000-0002-1414-7607","observed_orcids":["https://orcid.org/0000-0002-1414-7607"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Angela Banks","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048718343","display_name":"Lin Fan","orcid":"https://orcid.org/0000-0002-9411-496X","observed_orcids":["https://orcid.org/0000-0002-9411-496X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lin Fan","raw_affiliation_strings":["Analytical Sciences and Imaging, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Analytical Sciences and Imaging, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018906755","display_name":"Tom\u00e1\u0161 Rejtar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tomas Rejtar","raw_affiliation_strings":["Analytical Sciences and Imaging, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Analytical Sciences and Imaging, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079119366","display_name":"Natasha M. Buchanan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Natasha Buchanan","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055727316","display_name":"Omar Delgado","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Omar Delgado","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102488853","display_name":"Yong Yao Xu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yong Yao Xu","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047575935","display_name":"Sandra Jose","orcid":"https://orcid.org/0000-0002-6987-6460","observed_orcids":["https://orcid.org/0000-0002-6987-6460"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sandra Jose","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017419212","display_name":"Christopher M. Adams","orcid":"https://orcid.org/0000-0002-5246-884X","observed_orcids":["https://orcid.org/0000-0002-5246-884X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Christopher M Adams","raw_affiliation_strings":["Global Discovery Chemistry, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Global Discovery Chemistry, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049290112","display_name":"Muneto Mogi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Muneto Mogi","raw_affiliation_strings":["Global Discovery Chemistry, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Global Discovery Chemistry, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112703143","display_name":"Karen Wang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Karen Wang","raw_affiliation_strings":["Analytical Sciences and Imaging, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Analytical Sciences and Imaging, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030778280","display_name":"Chad E. Bigelow","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chad E Bigelow","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080424082","display_name":"Stephen H. Poor","orcid":"https://orcid.org/0000-0003-4374-1178","observed_orcids":["https://orcid.org/0000-0003-4374-1178"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stephen Poor","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103793051","display_name":"Karen Anderson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Karen Anderson","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070284691","display_name":"BRUCE D. JAFFEE","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bruce D Jaffee","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091860060","display_name":"Ganesh Prasanna","orcid":"https://orcid.org/0000-0001-6420-270X","observed_orcids":["https://orcid.org/0000-0001-6420-270X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ganesh Prasanna","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071232167","display_name":"Cynthia L. Grosskreutz","orcid":"https://orcid.org/0000-0001-8731-0463","observed_orcids":["https://orcid.org/0000-0001-8731-0463"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cynthia Grosskreutz","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064501640","display_name":"Rosario Fern\u00e1ndez\u2010Godino","orcid":"https://orcid.org/0000-0002-8831-7189","observed_orcids":["https://orcid.org/0000-0002-8831-7189"]},"institutions":[{"id":"https://openalex.org/I1287163989","display_name":"Massachusetts Eye and Ear Infirmary","ror":"https://ror.org/04g3dn724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1287163989"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rosario Fernandez-Godino","raw_affiliation_strings":["Ocular Genomics Institute at Massachusetts Eye and Ear, Harvard Medical School , Boston, MA 02114 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ocular Genomics Institute at Massachusetts Eye and Ear, Harvard Medical School , Boston, MA 02114 , USA","institution_ids":["https://openalex.org/I1287163989","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048366850","display_name":"Eric A. Pierce","orcid":"https://orcid.org/0000-0002-2354-4102","observed_orcids":["https://orcid.org/0000-0002-2354-4102"]},"institutions":[{"id":"https://openalex.org/I1287163989","display_name":"Massachusetts Eye and Ear Infirmary","ror":"https://ror.org/04g3dn724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1287163989"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eric A Pierce","raw_affiliation_strings":["Ocular Genomics Institute at Massachusetts Eye and Ear, Harvard Medical School , Boston, MA 02114 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ocular Genomics Institute at Massachusetts Eye and Ear, Harvard Medical School , Boston, MA 02114 , USA","institution_ids":["https://openalex.org/I1287163989","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108281262","display_name":"Thaddeus P. Dryja","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Thaddeus P Dryja","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061713157","display_name":"Sha-Mei Liao","orcid":"https://orcid.org/0000-0002-3991-2352","observed_orcids":["https://orcid.org/0000-0002-3991-2352"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Sha-Mei Liao","raw_affiliation_strings":["Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA"],"raw_orcid":"https://orcid.org/0000-0002-3991-2352","affiliations":[{"raw_affiliation_string":"Ophthalmology, Novartis Institutes for BioMedical Research , Cambridge, MA 02319 , USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5061713157"],"corresponding_institution_ids":[],"apc_list":{"value":4181,"currency":"USD","value_usd":4181},"apc_paid":{"value":4181,"currency":"USD","value_usd":4181},"fwci":2.6837,"has_fulltext":true,"cited_by_count":19,"citation_normalized_percentile":{"value":0.90221846,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"32","issue":"2","first_page":"204","last_page":"217"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10170","display_name":"Retinal Diseases and Treatments","score":0.9243000149726868,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T10170","display_name":"Retinal Diseases and Treatments","score":0.9243000149726868,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T10691","display_name":"Retinal Development and Disorders","score":0.05420000106096268,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T10993","display_name":"Complement system in diseases","score":0.010200000368058681,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/malattia-leventinese","display_name":"Malattia Leventinese","score":0.9789999723434448},{"id":"https://openalex.org/keywords/factor-b","display_name":"factor B","score":0.890999972820282},{"id":"https://openalex.org/keywords/alternative-complement-pathway","display_name":"alternative complement pathway","score":0.9890000224113464},{"id":"https://openalex.org/keywords/age-related-macular-degeneration","display_name":"age-related macular degeneration","score":0.984000027179718},{"id":"https://openalex.org/keywords/dry-age-related-macular-degeneration","display_name":"dry age-related macular degeneration","score":0.7879999876022339},{"id":"https://openalex.org/keywords/retinal-pigment-epithelium","display_name":"retinal pigment epithelium","score":0.8690000176429749},{"id":"https://openalex.org/keywords/unfolded-protein-response","display_name":"unfolded protein response","score":0.9179999828338623},{"id":"https://openalex.org/keywords/mitochondrial-dysfunction","display_name":"mitochondrial dysfunction","score":0.9679999947547913},{"id":"https://openalex.org/keywords/ocular-inflammation","display_name":"ocular inflammation","score":0.8259999752044678},{"id":"https://openalex.org/keywords/complement-activation","display_name":"complement activation","score":0.47099998593330383},{"id":"https://openalex.org/keywords/ic3b","display_name":"iC3b","score":0.8209999799728394},{"id":"https://openalex.org/keywords/ba","display_name":"BA","score":0.6449999809265137},{"id":"https://openalex.org/keywords/complement-inhibitors","display_name":"complement inhibitors","score":0.46700000762939453},{"id":"https://openalex.org/keywords/sex-differences","display_name":"sex differences","score":0.7860000133514404},{"id":"https://openalex.org/keywords/knock-in-mice","display_name":"knock-in mice","score":0.6060000061988831}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7504966259002686},{"id":"https://openalex.org/C2776403814","wikidata":"https://www.wikidata.org/wiki/Q27429789","display_name":"Macular degeneration","level":2,"score":0.7448782324790955},{"id":"https://openalex.org/C182629451","wikidata":"https://www.wikidata.org/wiki/Q18251054","display_name":"Complement factor B","level":4,"score":0.6514964699745178},{"id":"https://openalex.org/C2777093970","wikidata":"https://www.wikidata.org/wiki/Q169342","display_name":"Retina","level":2,"score":0.6476312875747681},{"id":"https://openalex.org/C111684460","wikidata":"https://www.wikidata.org/wiki/Q334848","display_name":"Complement system","level":3,"score":0.6420321464538574},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.5883094668388367},{"id":"https://openalex.org/C2781040256","wikidata":"https://www.wikidata.org/wiki/Q7316761","display_name":"Retinal degeneration","level":3,"score":0.5141003727912903},{"id":"https://openalex.org/C179369057","wikidata":"https://www.wikidata.org/wiki/Q20970075","display_name":"Complement factor I","level":4,"score":0.498870849609375},{"id":"https://openalex.org/C189446657","wikidata":"https://www.wikidata.org/wiki/Q4736500","display_name":"Alternative complement pathway","level":4,"score":0.4545140266418457},{"id":"https://openalex.org/C14356644","wikidata":"https://www.wikidata.org/wiki/Q14911975","display_name":"Factor H","level":4,"score":0.452430784702301},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3611581325531006},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.35172781348228455},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.251571923494339},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.19590261578559875},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.138956218957901},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1117287278175354},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.10089939832687378},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.0807352364063263}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","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":"D008268","descriptor_name":"Macular Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008268","descriptor_name":"Macular Degeneration","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011415","descriptor_name":"Complement Factor B","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015594","descriptor_name":"Optic Disk Drusen","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D015594","descriptor_name":"Optic Disk Drusen","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055213","descriptor_name":"Retinal Pigment Epithelium","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/hmg/ddac187","doi":"https://doi.org/10.1093/hmg/ddac187","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddac187","pdf_url":"https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac187/45739888/ddac187.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9840207","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9840207","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hum Mol Genet","raw_type":"Text"},{"id":"pmid:35943778","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35943778","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":"Human molecular genetics","raw_type":"Journal Article"},{"id":"pmh:oai:oak.novartis.com:46918","doi":null,"is_oa":false,"landing_page_url":"https://oak.novartis.com/46918/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400709","display_name":"The Novartis Repository (Novartis)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1283582996","host_organization_name":"Novartis (Switzerland)","host_organization_lineage":["https://openalex.org/I1283582996"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1093/hmg/ddac187","doi":"https://doi.org/10.1093/hmg/ddac187","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddac187","pdf_url":"https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac187/45739888/ddac187.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9789000153541565}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320333796","display_name":"Novartis Institutes for BioMedical Research","ror":"https://ror.org/053gv2m95"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4290793038.pdf","grobid_xml":"https://content.openalex.org/works/W4290793038.grobid-xml"},"referenced_works_count":57,"referenced_works":["https://openalex.org/W62535517","https://openalex.org/W202780638","https://openalex.org/W790352124","https://openalex.org/W1559199589","https://openalex.org/W1563557384","https://openalex.org/W1883306593","https://openalex.org/W1965393007","https://openalex.org/W1965404473","https://openalex.org/W1989747234","https://openalex.org/W1995856381","https://openalex.org/W2002712265","https://openalex.org/W2040864263","https://openalex.org/W2064703228","https://openalex.org/W2093802575","https://openalex.org/W2104436279","https://openalex.org/W2123473448","https://openalex.org/W2126525177","https://openalex.org/W2140536893","https://openalex.org/W2146512944","https://openalex.org/W2148349716","https://openalex.org/W2148796365","https://openalex.org/W2162911743","https://openalex.org/W2166245542","https://openalex.org/W2166371133","https://openalex.org/W2171753586","https://openalex.org/W2214074259","https://openalex.org/W2233221674","https://openalex.org/W2314634699","https://openalex.org/W2325167891","https://openalex.org/W2333112888","https://openalex.org/W2429031812","https://openalex.org/W2460245075","https://openalex.org/W2463461846","https://openalex.org/W2592811885","https://openalex.org/W2766818981","https://openalex.org/W2793528954","https://openalex.org/W2794259284","https://openalex.org/W2883739935","https://openalex.org/W2898598946","https://openalex.org/W2900612430","https://openalex.org/W2927939151","https://openalex.org/W2959393635","https://openalex.org/W2984009413","https://openalex.org/W3010320439","https://openalex.org/W3036285809","https://openalex.org/W3037120109","https://openalex.org/W3081661825","https://openalex.org/W3087336676","https://openalex.org/W3116031220","https://openalex.org/W3128675638","https://openalex.org/W3135244093","https://openalex.org/W3162622393","https://openalex.org/W3177308137","https://openalex.org/W3208691473","https://openalex.org/W4211199473","https://openalex.org/W4255287828","https://openalex.org/W4281250033"],"related_works":["https://openalex.org/W6999289044","https://openalex.org/W2123473448","https://openalex.org/W2162911743","https://openalex.org/W2141588316","https://openalex.org/W1998641950","https://openalex.org/W2883081901","https://openalex.org/W1978753457","https://openalex.org/W3162622393","https://openalex.org/W4396515385","https://openalex.org/W2089275254"],"abstract_inverted_index":{"EFEMP1":[0],"R345W":[1],"is":[2],"a":[3,13,175,241],"dominant":[4],"mutation":[5],"causing":[6],"Doyne":[7],"honeycomb":[8],"retinal":[9,40],"dystrophy/malattia":[10],"leventinese":[11],"(DHRD/ML),":[12],"rare":[14],"blinding":[15],"disease":[16],"with":[17,114,139],"clinical":[18],"pathology":[19],"similar":[20,124],"to":[21,182],"age-related":[22],"macular":[23],"degeneration":[24],"(AMD).":[25],"Aged":[26],"Efemp1":[27],"R345W/R345W":[28],"knock-in":[29],"mice":[30,112,162,199,231],"(Efemp1ki/ki)":[31],"develop":[32],"microscopic":[33],"deposits":[34,189,203],"on":[35,219,229],"the":[36,55,66,74,86,156,165,236],"basal":[37],"side":[38],"of":[39,57,68,73,92,108,110,120,144,155,174,185,209,216,224,235,244],"pigment":[41],"epithelial":[42],"cells":[43],"(RPE),":[44],"an":[45,140],"early":[46],"feature":[47],"in":[48,65,85,98,135,159],"DHRD/ML":[49],"and":[50,94,102,149,171,213,247],"AMD.":[51],"Here,":[52],"we":[53],"assessed":[54],"role":[56],"alternative":[58,237],"complement":[59,145,211,238],"pathway":[60,169,239],"component":[61],"factor":[62],"B":[63],"(FB)":[64],"formation":[67],"these":[69],"deposits.":[70,221],"RNA-seq":[71],"analysis":[72,119],"posterior":[75,103],"eyecups":[76,104],"revealed":[77],"increased":[78,95,134],"unfolded":[79],"protein":[80],"response,":[81],"decreased":[82],"mitochondrial":[83],"function":[84],"neural":[87,100],"retina":[88,101],"(by":[89],"3":[90],"months":[91,107,184],"age)":[93,109],"inflammatory":[96],"pathways":[97,126],"both":[99],"(at":[105],"17":[106],"Efemp1ki/ki":[111,137,161,198,230],"compared":[113],"wild-type":[115],"littermate":[116],"controls.":[117],"Proteomics":[118],"eye":[121],"lysates":[122],"confirmed":[123],"dysregulated":[125,167],"as":[127,240],"detected":[128],"by":[129,190],"RNA-seq.":[130],"Complement":[131],"activation":[132,212],"was":[133],"aged":[136],"eyes":[138],"approximately":[141],"2-fold":[142],"elevation":[143,208],"breakdown":[146],"products":[147],"iC3b":[148],"Ba":[150],"(P":[151,192],"<":[152],"0.05).":[153],"Deletion":[154],"Cfb":[157],"gene":[158],"female":[160],"partially":[163],"normalized":[164],"above":[166],"biological":[168],"changes":[170],"oral":[172],"dosing":[173],"small":[176],"molecule":[177],"FB":[178,217,225],"inhibitor":[179],"from":[180],"10":[181],"12":[183],"age":[186],"reduced":[187],"sub-RPE":[188,202,220],"65%":[191],"=":[193],"0.029).":[194],"In":[195],"contrast,":[196],"male":[197],"had":[200],"fewer":[201],"than":[204],"age-matched":[205],"females,":[206],"no":[207,214],"ocular":[210],"effect":[215],"inhibition":[218,228,234],"The":[222],"effects":[223],"deletion":[226],"or":[227],"supports":[232],"systemic":[233],"potential":[242],"treatment":[243],"dry":[245],"AMD":[246],"DHRD/ML.":[248]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2022-08-09T00:00:00"}