{"id":"https://openalex.org/W4409435457","doi":"https://doi.org/10.3390/ijms26083636","title":"Genetic Analysis of Choroideremia-Related Rab Escort Proteins","display_name":"Genetic Analysis of Choroideremia-Related Rab Escort Proteins","publication_year":2025,"publication_date":"2025-04-11","ids":{"openalex":"https://openalex.org/W4409435457","doi":"https://doi.org/10.3390/ijms26083636","pmid":"https://pubmed.ncbi.nlm.nih.gov/40332248","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12027379"},"language":"en","primary_location":{"id":"doi:10.3390/ijms26083636","doi":"https://doi.org/10.3390/ijms26083636","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms26083636","pdf_url":"https://www.mdpi.com/1422-0067/26/8/3636/pdf?version=1744385782","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/1422-0067/26/8/3636/pdf?version=1744385782","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5047324585","display_name":"Zhuo Xing","orcid":"https://orcid.org/0000-0002-4635-6630","observed_orcids":["https://orcid.org/0000-0002-4635-6630","https://orcid.org/0009-0008-8721-4488"]},"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":"Zhuo Xing","raw_affiliation_strings":["The Children\u2019s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":"https://orcid.org/0000-0002-4635-6630","affiliations":[{"raw_affiliation_string":"The Children\u2019s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050319998","display_name":"Fuguo Wu","orcid":"https://orcid.org/0000-0001-6266-5647","observed_orcids":["https://orcid.org/0000-0001-6266-5647"]},"institutions":[{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Fuguo Wu","raw_affiliation_strings":["Department of Ophthalmology, Ross Eye Institute, State University of New York at Buffalo, Buffalo, NY 14203, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Ross Eye Institute, State University of New York at Buffalo, Buffalo, NY 14203, USA","institution_ids":["https://openalex.org/I63190737"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064191165","display_name":"Eduardo Cortes Gomez","orcid":"https://orcid.org/0000-0002-0966-6488","observed_orcids":["https://orcid.org/0000-0002-0966-6488"]},"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":"Eduardo Cortes-Gomez","raw_affiliation_strings":["Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":"https://orcid.org/0000-0002-0966-6488","affiliations":[{"raw_affiliation_string":"Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091303921","display_name":"Annie Pao","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":"Annie Pao","raw_affiliation_strings":["The Children\u2019s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Children\u2019s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008395889","display_name":"Lingqiu Gao","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":"Lingqiu Gao","raw_affiliation_strings":["The Children\u2019s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Children\u2019s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Avrium Douglas","orcid":"https://orcid.org/0009-0005-3203-8112","observed_orcids":["https://orcid.org/0009-0005-3203-8112"]},"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":"Avrium Douglas","raw_affiliation_strings":["The Children\u2019s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":"https://orcid.org/0009-0005-3203-8112","affiliations":[{"raw_affiliation_string":"The Children\u2019s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091426990","display_name":"Yichen Li","orcid":"https://orcid.org/0000-0002-5408-1219","observed_orcids":["https://orcid.org/0000-0002-5408-1219"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I4405287411","display_name":"Cleveland Clinic Research","ror":"https://ror.org/053229s83","country_code":"US","type":"facility","lineage":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yichen Li","raw_affiliation_strings":["Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA","institution_ids":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054903525","display_name":"Joseph A. Spernyak","orcid":"https://orcid.org/0000-0002-5049-4737","observed_orcids":["https://orcid.org/0000-0002-5049-4737"]},"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":"Joseph A. Spernyak","raw_affiliation_strings":["Department of Cell Stress Biology, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":"https://orcid.org/0000-0002-5049-4737","affiliations":[{"raw_affiliation_string":"Department of Cell Stress Biology, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007640637","display_name":"Guang William Wong","orcid":"https://orcid.org/0000-0002-5286-6506","observed_orcids":["https://orcid.org/0000-0002-5286-6506"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"G. William Wong","raw_affiliation_strings":["Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"],"raw_orcid":"https://orcid.org/0000-0002-5286-6506","affiliations":[{"raw_affiliation_string":"Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100734302","display_name":"Prashant Kumar Singh","orcid":"https://orcid.org/0000-0002-2128-1548","observed_orcids":["https://orcid.org/0000-0002-2128-1548","https://orcid.org/0000-0002-8613-1428"]},"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":"Prashant K. Singh","raw_affiliation_strings":["Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100373514","display_name":"Jianmin Wang","orcid":"https://orcid.org/0000-0001-7527-0409","observed_orcids":["https://orcid.org/0000-0001-7527-0409"]},"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":"Jianmin Wang","raw_affiliation_strings":["Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":"https://orcid.org/0000-0001-7527-0409","affiliations":[{"raw_affiliation_string":"Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100339600","display_name":"Song Liu","orcid":"https://orcid.org/0000-0001-6351-2941","observed_orcids":["https://orcid.org/0000-0001-6351-2941","https://orcid.org/0000-0003-2827-6319"]},"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":"Song Liu","raw_affiliation_strings":["Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023323390","display_name":"Yasmin M. Thanavala","orcid":"https://orcid.org/0000-0003-4802-4952","observed_orcids":["https://orcid.org/0000-0003-4802-4952"]},"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":"Yasmin Thanavala","raw_affiliation_strings":["Department of Immunology, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":"https://orcid.org/0000-0003-4802-4952","affiliations":[{"raw_affiliation_string":"Department of Immunology, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030881916","display_name":"Ian M. MacDonald","orcid":"https://orcid.org/0000-0001-7472-8385","observed_orcids":["https://orcid.org/0000-0001-7472-8385","https://orcid.org/0000-0002-2934-3627"]},"institutions":[{"id":"https://openalex.org/I70931966","display_name":"Universit\u00e9 de Montr\u00e9al","ror":"https://ror.org/0161xgx34","country_code":"CA","type":"education","lineage":["https://openalex.org/I70931966"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Ian M. MacDonald","raw_affiliation_strings":["Department of Ophthalmology, Universit\u00e9 de Montr\u00e9al, Montreal, QC H3T 1J4, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Universit\u00e9 de Montr\u00e9al, Montreal, QC H3T 1J4, Canada","institution_ids":["https://openalex.org/I70931966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068006897","display_name":"Xiuqian Mu","orcid":"https://orcid.org/0000-0002-8003-7529","observed_orcids":["https://orcid.org/0000-0002-8003-7529"]},"institutions":[{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xiuqian Mu","raw_affiliation_strings":["Department of Ophthalmology, Ross Eye Institute, State University of New York at Buffalo, Buffalo, NY 14203, USA"],"raw_orcid":"https://orcid.org/0000-0002-8003-7529","affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Ross Eye Institute, State University of New York at Buffalo, Buffalo, NY 14203, USA","institution_ids":["https://openalex.org/I63190737"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012421006","display_name":"Y. Eugene Yu","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"]},{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Y. Eugene Yu","raw_affiliation_strings":["Genetics, Genomics and Bioinformatics Program, State University of New York at Buffalo, Buffalo, NY 14203, USA","The Children\u2019s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics, Genomics and Bioinformatics Program, State University of New York at Buffalo, Buffalo, NY 14203, USA","institution_ids":["https://openalex.org/I63190737"]},{"raw_affiliation_string":"The Children\u2019s Guild Foundation Down Syndrome Research Program, Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA","institution_ids":["https://openalex.org/I1292894508"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5012421006"],"corresponding_institution_ids":["https://openalex.org/I1292894508","https://openalex.org/I63190737"],"apc_list":{"value":2900,"currency":"CHF","value_usd":3499},"apc_paid":{"value":2900,"currency":"CHF","value_usd":3499},"fwci":0.7578,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.64156449,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"26","issue":"8","first_page":"3636","last_page":"3636"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9829000234603882,"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/T10691","display_name":"Retinal Development and Disorders","score":0.9829000234603882,"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/T10617","display_name":"Cellular transport and secretion","score":0.009399999864399433,"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":0.003000000026077032,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/choroideremia","display_name":"choroideremia","score":1.0},{"id":"https://openalex.org/keywords/rab-escort-protein-1","display_name":"Rab escort protein 1","score":0.8629999756813049},{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.8370000123977661},{"id":"https://openalex.org/keywords/retinal-degeneration","display_name":"retinal degeneration","score":0.8679999709129333},{"id":"https://openalex.org/keywords/lipid-metabolism","display_name":"lipid metabolism","score":0.5789999961853027},{"id":"https://openalex.org/keywords/hemoglobin-metabolism","display_name":"hemoglobin metabolism","score":0.9959999918937683},{"id":"https://openalex.org/keywords/systemic-inflammation","display_name":"systemic inflammation","score":0.800000011920929},{"id":"https://openalex.org/keywords/proinflammatory-signaling","display_name":"pro-inflammatory signaling","score":0.8709999918937683},{"id":"https://openalex.org/keywords/retinal-transcriptome","display_name":"retinal transcriptome","score":0.6859999895095825},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.5699999928474426},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.5649999976158142}],"concepts":[{"id":"https://openalex.org/C2779418775","wikidata":"https://www.wikidata.org/wiki/Q2397009","display_name":"Choroideremia","level":3,"score":0.9967285394668579},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7218739986419678},{"id":"https://openalex.org/C2781040256","wikidata":"https://www.wikidata.org/wiki/Q7316761","display_name":"Retinal degeneration","level":3,"score":0.6893609166145325},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.6590989828109741},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5483782887458801},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.49903297424316406},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4782378077507019},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.4510306119918823},{"id":"https://openalex.org/C156728348","wikidata":"https://www.wikidata.org/wiki/Q416778","display_name":"Rab","level":3,"score":0.43285292387008667},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4246256351470947},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.39420825242996216},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.10399213433265686},{"id":"https://openalex.org/C207332259","wikidata":"https://www.wikidata.org/wiki/Q769143","display_name":"GTPase","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015794","descriptor_name":"Choroideremia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015794","descriptor_name":"Choroideremia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D015794","descriptor_name":"Choroideremia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D048868","descriptor_name":"Adaptor Proteins, Signal Transducing","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D048868","descriptor_name":"Adaptor Proteins, Signal Transducing","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.3390/ijms26083636","doi":"https://doi.org/10.3390/ijms26083636","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms26083636","pdf_url":"https://www.mdpi.com/1422-0067/26/8/3636/pdf?version=1744385782","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12027379","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12027379","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Int J Mol Sci","raw_type":"Text"},{"id":"pmid:40332248","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40332248","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":"International journal of molecular sciences","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.3390/ijms26083636","doi":"https://doi.org/10.3390/ijms26083636","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms26083636","pdf_url":"https://www.mdpi.com/1422-0067/26/8/3636/pdf?version=1744385782","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9074000120162964,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2253161262","display_name":"Regulation of mRNA decay in retinal development and maintenance","funder_award_id":"R01EY029705","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G4678532384","display_name":"Mechanisms of Down syndrome-associated swallowing dysfunction in mouse models","funder_award_id":"1r01dc019735-01a1","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G5801322242","display_name":"Acquisition of a 7T MR scanner for Translational Imaging Research at Roswell Park","funder_award_id":"1s10od030397-01","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8363017900","display_name":"Epigenetics of Down Syndrome","funder_award_id":"R01HD090180","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G8943596908","display_name":"Mutational analysis to understand the role of CHML in developmental regression","funder_award_id":"R21GM114645","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G9000861292","display_name":"Director Genomics Shared Resource","funder_award_id":"R50CA283805","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000881298","display_name":"Regulatory mechanisms for retinal ganglion cell genesis","funder_award_id":"R01EY020545","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G9000881306","display_name":"Initiative for Maximizing Student Development at University at Buffalo","funder_award_id":"T32GM144920","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G9000907594","display_name":"Generation and analysis of new mouse models to determine novel therapeutic targets for Down syndrome-associated cognitive deficits","funder_award_id":"R01HD109750","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4409435457.pdf","grobid_xml":"https://content.openalex.org/works/W4409435457.grobid-xml"},"referenced_works_count":66,"referenced_works":["https://openalex.org/W1430642159","https://openalex.org/W1525227301","https://openalex.org/W1597915813","https://openalex.org/W1601380713","https://openalex.org/W1975702431","https://openalex.org/W1990373664","https://openalex.org/W1994668150","https://openalex.org/W2017350075","https://openalex.org/W2023013045","https://openalex.org/W2036688990","https://openalex.org/W2039083442","https://openalex.org/W2041179433","https://openalex.org/W2042742511","https://openalex.org/W2048216223","https://openalex.org/W2051626784","https://openalex.org/W2057777449","https://openalex.org/W2064815984","https://openalex.org/W2105573867","https://openalex.org/W2107927699","https://openalex.org/W2108234281","https://openalex.org/W2122683221","https://openalex.org/W2128016314","https://openalex.org/W2128392882","https://openalex.org/W2130410032","https://openalex.org/W2137586531","https://openalex.org/W2138207763","https://openalex.org/W2148117680","https://openalex.org/W2151971960","https://openalex.org/W2152204297","https://openalex.org/W2169456326","https://openalex.org/W2179438025","https://openalex.org/W2183730325","https://openalex.org/W2214074259","https://openalex.org/W2460429062","https://openalex.org/W2675154008","https://openalex.org/W2810681605","https://openalex.org/W2891381665","https://openalex.org/W2900979774","https://openalex.org/W2916374885","https://openalex.org/W2933803463","https://openalex.org/W2940557793","https://openalex.org/W2953016882","https://openalex.org/W2997046368","https://openalex.org/W3006421943","https://openalex.org/W3010233577","https://openalex.org/W3010668086","https://openalex.org/W3040858422","https://openalex.org/W3087137650","https://openalex.org/W3098826649","https://openalex.org/W3101138407","https://openalex.org/W3119668850","https://openalex.org/W3136516433","https://openalex.org/W3144582643","https://openalex.org/W3164467038","https://openalex.org/W4220706225","https://openalex.org/W4221068234","https://openalex.org/W4240233363","https://openalex.org/W4293777840","https://openalex.org/W4297224647","https://openalex.org/W4312222178","https://openalex.org/W4317553417","https://openalex.org/W4382631509","https://openalex.org/W4388828053","https://openalex.org/W4388830818","https://openalex.org/W4395661512","https://openalex.org/W6791552903"],"related_works":["https://openalex.org/W7116650964","https://openalex.org/W1975559173","https://openalex.org/W2017986205","https://openalex.org/W4385067776","https://openalex.org/W4388830818","https://openalex.org/W2069834315","https://openalex.org/W4205545467","https://openalex.org/W3182477062","https://openalex.org/W4248923540","https://openalex.org/W1965316261"],"abstract_inverted_index":{"gene,":[0],"which":[1,181],"encodes":[2],"Rab":[3,13],"escort":[4,14],"protein":[5,15],"1":[6],"(REP-1).":[7],"In":[8,40],"humans":[9],"and":[10,23,55,83,134,155,164,175],"mice,":[11],"the":[12,36,50,63,70,185],"(REP)":[16],"family":[17],"consists":[18],"of":[19,49,53,114,123,137,143,179,187],"two":[20],"members,":[21],"REP-1":[22,31,54,118,154],"REP-2,":[24],"with":[25,77],"REP-2":[26,144,156],"hypothesized":[27],"to":[28,184],"compensate":[29],"for":[30,67,190],"deficiency":[32,152],"in":[33,38,62,75,91,95,109,153,158,162,165],"tissues":[34],"outside":[35],"eye":[37],"choroideremia.":[39],"this":[41,191],"study,":[42],"we":[43],"conducted":[44],"a":[45],"systematic":[46],"mutational":[47],"analysis":[48,113],"mouse":[51],"orthologs":[52],"REP-2.":[56],"Blood":[57],"analyses":[58],"revealed":[59,121],"metabolic":[60,72],"abnormalities":[61,102],"mutant":[64,97],"mice":[65,120],"deficient":[66,119],"REP-1,":[68],"resembling":[69],"systemic":[71,92,101],"disturbances":[73],"observed":[74,88],"individuals":[76],"choroideremia,":[78,180],"such":[79],"as":[80],"altered":[81],"lipid":[82],"hemoglobin":[84],"metabolism.":[85],"We":[86],"also":[87],"an":[89],"elevation":[90],"inflammatory":[93],"biomarkers":[94],"these":[96,100],"mice.":[98,111],"Interestingly,":[99],"emerged":[103],"before":[104],"retinal":[105],"degeneration":[106],"became":[107],"detectable":[108,148],"REP-1-deficient":[110],"Transcriptomic":[112],"retinas":[115],"isolated":[116],"from":[117],"enrichment":[122],"proinflammatory":[124],"signaling":[125],"pathways.":[126],"These":[127],"results":[128],"suggest":[129],"important":[130],"similarities":[131],"between":[132],"choroideremia":[133],"some":[135],"forms":[136],"retinitis":[138],"pigmentosa.":[139],"While":[140],"engineered":[141],"loss":[142],"alone":[145],"caused":[146],"no":[147],"phenotypic":[149],"changes,":[150],"dual":[151],"resulted":[157],"lethality":[159],"under":[160],"both":[161],"vivo":[163],"vitro":[166],"conditions.":[167],"Our":[168],"findings":[169],"offer":[170],"novel":[171],"insights":[172],"into":[173],"REPs":[174],"deepen":[176],"our":[177],"understanding":[178],"may":[182],"contribute":[183],"development":[186],"new":[188],"treatments":[189],"genetic":[192],"condition.":[193]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2025-04-15T00:00:00"}
