{"id":"https://openalex.org/W30375830","doi":null,"title":"An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9.","display_name":"An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9.","publication_year":2010,"publication_date":"2010-08-11","ids":{"openalex":"https://openalex.org/W30375830","mag":"30375830","pmid":"https://pubmed.ncbi.nlm.nih.gov/20806078","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2925905"},"language":"en","primary_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2925905","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2925905","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":"Mol Vis","raw_type":"Text"},"volume":null,"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2925905","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5014611355","display_name":"Orly Goldstein","orcid":"https://orcid.org/0000-0001-7781-2734","observed_orcids":["https://orcid.org/0000-0001-7781-2734"]},"institutions":[{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I4210151139","display_name":"New York State College of Veterinary Medicine","ror":"https://ror.org/04r17kf39","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4210151139"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Orly Goldstein","raw_affiliation_strings":["Baker Institute for Animal Health, Cornell University College of Veterinary Medicine, Ithaca, NY 14853-6401, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baker Institute for Animal Health, Cornell University College of Veterinary Medicine, Ithaca, NY 14853-6401, USA","institution_ids":["https://openalex.org/I205783295","https://openalex.org/I4210151139"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004096202","display_name":"Jason G. Mezey","orcid":"https://orcid.org/0000-0001-9250-6583","observed_orcids":["https://orcid.org/0000-0001-9250-6583"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jason G Mezey","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068023836","display_name":"Adam R. Boyko","orcid":"https://orcid.org/0000-0002-9125-6874","observed_orcids":["https://orcid.org/0000-0002-9125-6874"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Adam R Boyko","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Chuan Gao","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chuan Gao","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Wei Wang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Wei Wang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025246130","display_name":"Carlos D. Bustamante","orcid":"https://orcid.org/0000-0002-4187-7920","observed_orcids":["https://orcid.org/0000-0002-4187-7920","https://orcid.org/0000-0002-2884-4286","https://orcid.org/0000-0002-0816-6406"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carlos D Bustamante","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089399007","display_name":"Lynne J. Anguish","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lynne J Anguish","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102085348","display_name":"Julie Ann Jordan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Julie Ann Jordan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074235585","display_name":"Susan E. Pearce-Kelling","orcid":"https://orcid.org/0000-0003-1247-701X","observed_orcids":["https://orcid.org/0000-0003-1247-701X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Susan E Pearce-Kelling","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016715548","display_name":"Geoffrey K. Aguirre","orcid":"https://orcid.org/0000-0002-4028-3100","observed_orcids":["https://orcid.org/0000-0002-4028-3100"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gustavo D Aguirre","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5078087543","display_name":"Gregory M. Acland","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gregory M Acland","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.5954,"has_fulltext":false,"cited_by_count":46,"citation_normalized_percentile":{"value":0.89498369,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"16","issue":null,"first_page":"1549","last_page":"69"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular 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/T10691","display_name":"Retinal Development and Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular 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/T10170","display_name":"Retinal Diseases and Treatments","score":9.999999747378752e-05,"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/T11214","display_name":"Human-Animal Interaction Studies","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/adam9","display_name":"ADAM9","score":0.906000018119812},{"id":"https://openalex.org/keywords/genomic-deletions","display_name":"genomic deletions","score":0.46700000762939453},{"id":"https://openalex.org/keywords/premature-termination-codon","display_name":"premature stop codon","score":0.7350000143051147},{"id":"https://openalex.org/keywords/retinal-pigment-epithelium","display_name":"retinal pigment epithelium","score":0.9160000085830688},{"id":"https://openalex.org/keywords/cone-dysfunction","display_name":"cone dysfunction","score":0.5529999732971191},{"id":"https://openalex.org/keywords/positional-candidate-genes","display_name":"positional candidate genes","score":0.5770000219345093},{"id":"https://openalex.org/keywords/electroretinography","display_name":"electroretinogram","score":0.7350000143051147}],"concepts":[{"id":"https://openalex.org/C2777017193","wikidata":"https://www.wikidata.org/wiki/Q4162411","display_name":"Dystrophy","level":2,"score":0.614855945110321},{"id":"https://openalex.org/C30014739","wikidata":"https://www.wikidata.org/wiki/Q5159445","display_name":"Cone (formal languages)","level":2,"score":0.5897468328475952},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.543945848941803},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.49333658814430237},{"id":"https://openalex.org/C165525559","wikidata":"https://www.wikidata.org/wiki/Q224180","display_name":"Homology (biology)","level":3,"score":0.48561468720436096},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4817471504211426},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.28322041034698486},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.10134902596473694},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001947","descriptor_name":"Breeding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001947","descriptor_name":"Breeding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001947","descriptor_name":"Breeding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001947","descriptor_name":"Breeding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004283","descriptor_name":"Dog Diseases","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004285","descriptor_name":"Dogs","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004285","descriptor_name":"Dogs","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004285","descriptor_name":"Dogs","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004285","descriptor_name":"Dogs","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004596","descriptor_name":"Electroretinography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004596","descriptor_name":"Electroretinography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004596","descriptor_name":"Electroretinography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004596","descriptor_name":"Electroretinography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000662","qualifier_name":"veterinary","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000662","qualifier_name":"veterinary","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000662","qualifier_name":"veterinary","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000662","qualifier_name":"veterinary","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051722","descriptor_name":"ADAM Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051722","descriptor_name":"ADAM Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051722","descriptor_name":"ADAM Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051722","descriptor_name":"ADAM Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051722","descriptor_name":"ADAM Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051722","descriptor_name":"ADAM Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051722","descriptor_name":"ADAM Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051722","descriptor_name":"ADAM Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmh:oai:pubmedcentral.nih.gov:2925905","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2925905","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":"Mol Vis","raw_type":"Text"},{"id":"pmid:20806078","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20806078","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":"Molecular vision","raw_type":"Journal Article"},{"id":"mag:30375830","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20806078","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2925905","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2925905","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":"Mol Vis","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G6901340282","display_name":"Tools for Genetic and Genomic Studies in the Dog","funder_award_id":"R24GM082910","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G8120170862","display_name":"Translational Research for Retinal Degeneration Therapies","funder_award_id":"R01EY017549","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G9000869146","display_name":"Models for Therapy of Hereditary Retinal Degeneration","funder_award_id":"R01EY006855","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"}],"funders":[{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":38,"referenced_works":["https://openalex.org/W91753092","https://openalex.org/W1554372034","https://openalex.org/W1967491345","https://openalex.org/W1987149071","https://openalex.org/W1988589573","https://openalex.org/W1991968981","https://openalex.org/W1994730862","https://openalex.org/W1996511362","https://openalex.org/W1996875707","https://openalex.org/W2008128385","https://openalex.org/W2024642024","https://openalex.org/W2033771299","https://openalex.org/W2034036682","https://openalex.org/W2034458200","https://openalex.org/W2035268284","https://openalex.org/W2047548224","https://openalex.org/W2050748970","https://openalex.org/W2052127481","https://openalex.org/W2058217811","https://openalex.org/W2058779010","https://openalex.org/W2068952795","https://openalex.org/W2075292410","https://openalex.org/W2078495124","https://openalex.org/W2085024301","https://openalex.org/W2103571477","https://openalex.org/W2106554167","https://openalex.org/W2113920630","https://openalex.org/W2114611642","https://openalex.org/W2115797109","https://openalex.org/W2121662637","https://openalex.org/W2122603731","https://openalex.org/W2126514623","https://openalex.org/W2128461993","https://openalex.org/W2130576545","https://openalex.org/W2141354154","https://openalex.org/W2144272122","https://openalex.org/W2153003103","https://openalex.org/W2409744266"],"related_works":["https://openalex.org/W2017210942","https://openalex.org/W2058217811","https://openalex.org/W1988914800","https://openalex.org/W2117396984","https://openalex.org/W2078495124","https://openalex.org/W7096189557","https://openalex.org/W7049086244","https://openalex.org/W2033830146","https://openalex.org/W1965360106","https://openalex.org/W4243167319"],"abstract_inverted_index":{"PURPOSE:":[0],"To":[1],"identify":[2],"the":[3,20,93,144,177,190,204,215,219,283],"causative":[4],"mutation":[5],"in":[6,19,43,127,200,207,235,263,274],"a":[7,65,153,163,181,212],"canine":[8,121,158,268],"cone-rod":[9,148],"dystrophy":[10,149],"(crd3)":[11],"that":[12,170],"segregates":[13],"as":[14,143,152,199,270],"an":[15],"adult":[16],"onset":[17],"disorder":[18],"Glen":[21,29],"of":[22,26,30,99,125,146,214,218,244,259,282],"Imaal":[23,31],"Terrier":[24],"breed":[25],"dog.":[27],"METHODS:":[28],"Terriers":[32],"were":[33,56],"ascertained":[34],"for":[35,89,157,279,288],"crd3":[36,208],"phenotype":[37],"by":[38,46,105,241],"clinical":[39],"ophthalmoscopic":[40],"examination,":[41],"and":[42,53,58,78,107,174,184,194,253,276,286],"selected":[44,100],"cases":[45,52],"electroretinography.":[47],"Blood":[48],"samples":[49],"from":[50,176,189],"affected":[51],"non-affected":[54],"controls":[55],"collected":[57],"used,":[59],"after":[60],"DNA":[61],"extraction,":[62],"to":[63,210,223,272],"undertake":[64],"genome-wide":[66,116],"association":[67,113],"study":[68],"using":[69],"Affymetrix":[70],"Version":[71],"2":[72],"Canine":[73],"single":[74],"nucleotide":[75],"polymorphism":[76],"chips":[77],"250K":[79],"Sty":[80],"Assay":[81],"protocol.":[82],"Positional":[83],"candidate":[84,156],"gene":[85],"analysis":[86,161],"was":[87,103,118],"undertaken":[88],"genes":[90,126],"identified":[91,119,140,162],"within":[92],"peak-association":[94],"signal":[95,114],"region.":[96],"Retinal":[97],"morphology":[98],"crd3-affected":[101,238,264],"dogs":[102,265],"evaluated":[104],"light":[106],"electron":[108,195],"microscopy.":[109],"RESULTS:":[110],"A":[111,131],"peak":[112],"exceeding":[115],"significance":[117],"on":[120],"chromosome":[122],"16.":[123],"Evaluation":[124],"this":[128,260,267],"region":[129],"suggested":[130],"Disintegrin":[132],"And":[133],"Metalloprotease":[134],"domain,":[135],"family":[136],"member":[137],"9":[138,150],"(ADAM9),":[139],"concurrently":[141],"elsewhere":[142],"cause":[145],"human":[147],"(CORD9),":[151],"strong":[154],"positional":[155],"crd3.":[159],"Sequence":[160],"large":[164],"genomic":[165],"deletion":[166,262],"(over":[167],"20":[168],"kb)":[169],"removed":[171],"exons":[172],"15":[173,242],"16":[175],"ADAM9":[178,201,261],"transcript,":[179],"introduced":[180],"premature":[182],"stop,":[183],"would":[185],"remove":[186],"critical":[187],"domains":[188],"encoded":[191],"protein.":[192],"Light":[193],"microscopy":[196],"established":[197],"that,":[198],"knockout":[202],"mice,":[203],"primary":[205],"lesion":[206],"appears":[209,233],"be":[211],"failure":[213],"apical":[216],"microvilli":[217],"retinal":[220,231],"pigment":[221],"epithelium":[222],"appropriately":[224],"invest":[225],"photoreceptor":[226],"outer":[227],"segments.":[228],"By":[229],"electroretinography,":[230],"function":[232,255],"normal":[234],"very":[236],"young":[237],"dogs,":[239],"but":[240],"months":[243],"age,":[245],"cone":[246,254],"dysfunction":[247],"is":[248],"present.":[249],"Subsequently,":[250],"both":[251],"rod":[252],"degenerate.":[256],"CONCLUSIONS:":[257],"Identification":[258],"establishes":[266],"disease":[269,284],"orthologous":[271],"CORD9":[273],"humans,":[275],"offers":[277],"opportunities":[278],"further":[280],"characterization":[281],"process,":[285],"potential":[287],"genetic":[289],"therapeutic":[290],"intervention.":[291]},"counts_by_year":[{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":9}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2016-06-24T00:00:00"}
