{"id":"https://openalex.org/W2053759809","doi":"https://doi.org/10.1371/journal.pgen.1003204","title":"Ectopic Expression of Ptf1a Induces Spinal Defects, Urogenital Defects, and Anorectal Malformations in Danforth's Short Tail Mice","display_name":"Ectopic Expression of Ptf1a Induces Spinal Defects, Urogenital Defects, and Anorectal Malformations in Danforth's Short Tail Mice","publication_year":2013,"publication_date":"2013-02-21","ids":{"openalex":"https://openalex.org/W2053759809","doi":"https://doi.org/10.1371/journal.pgen.1003204","mag":"2053759809","pmid":"https://pubmed.ncbi.nlm.nih.gov/23436999","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3578775"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pgen.1003204","doi":"https://doi.org/10.1371/journal.pgen.1003204","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pgen.1003204","pdf_url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003204&type=printable","source":{"id":"https://openalex.org/S103870658","display_name":"PLoS Genetics","issn_l":"1553-7390","issn":["1553-7390","1553-7404"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003204&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5087558527","display_name":"Kei Semba","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kei Semba","raw_affiliation_strings":["Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"raw_affiliation_string":"Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047683515","display_name":"Kimi Araki","orcid":"https://orcid.org/0000-0002-1396-1527","observed_orcids":["https://orcid.org/0000-0002-1396-1527"]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kimi Araki","raw_affiliation_strings":["Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111762849","display_name":"Ken-ichirou Matsumoto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Ken-ichirou Matsumoto","raw_affiliation_strings":["Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan","Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I96036126"]},{"raw_affiliation_string":"Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112037957","display_name":"Hiroko Suda","orcid":"https://orcid.org/0009-0009-4060-7097","observed_orcids":["https://orcid.org/0009-0009-4060-7097"]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroko Suda","raw_affiliation_strings":["Department of Transplantation/Pediatric Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan","Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Transplantation/Pediatric Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I96036126"]},{"raw_affiliation_string":"Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079028544","display_name":"Takashi Ando","orcid":"https://orcid.org/0000-0002-9035-4798","observed_orcids":["https://orcid.org/0000-0002-9035-4798"]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takashi Ando","raw_affiliation_strings":["Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan","Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I96036126"]},{"raw_affiliation_string":"Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113733592","display_name":"Akira Sei","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Akira Sei","raw_affiliation_strings":["Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111690014","display_name":"Hiroshi Mizuta","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroshi Mizuta","raw_affiliation_strings":["Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110333251","display_name":"Katsumasa Takagi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Katsumasa Takagi","raw_affiliation_strings":["Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic and Neuro-Musculoskeletal Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109166216","display_name":"Mai Nakahara","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Mai Nakahara","raw_affiliation_strings":["Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006671695","display_name":"Mayumi Muta","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Mayumi Muta","raw_affiliation_strings":["Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089366387","display_name":"Gen Yamada","orcid":"https://orcid.org/0000-0001-6160-2660","observed_orcids":["https://orcid.org/0000-0001-6160-2660"]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Gen Yamada","raw_affiliation_strings":["Department of Organ Formation, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Organ Formation, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027571634","display_name":"Naomi Nakagata","orcid":"https://orcid.org/0000-0002-5737-9993","observed_orcids":["https://orcid.org/0000-0002-5737-9993"]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Naomi Nakagata","raw_affiliation_strings":["Division of Reproductive Engineering, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Reproductive Engineering, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085142912","display_name":"Aritoshi Iida","orcid":"https://orcid.org/0000-0001-7538-1651","observed_orcids":["https://orcid.org/0000-0001-7538-1651"]},"institutions":[{"id":"https://openalex.org/I4210110652","display_name":"RIKEN","ror":"https://ror.org/01sjwvz98","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210110652"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Aritoshi Iida","raw_affiliation_strings":["Laboratory for Bone and Joint Diseases, RIKEN Center for Genomic Medicine, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Bone and Joint Diseases, RIKEN Center for Genomic Medicine, Tokyo, Japan","institution_ids":["https://openalex.org/I4210110652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015693631","display_name":"Shiro Ikegawa","orcid":"https://orcid.org/0000-0003-0316-2147","observed_orcids":["https://orcid.org/0000-0003-0316-2147"]},"institutions":[{"id":"https://openalex.org/I4210110652","display_name":"RIKEN","ror":"https://ror.org/01sjwvz98","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210110652"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Shiro Ikegawa","raw_affiliation_strings":["Laboratory for Bone and Joint Diseases, RIKEN Center for Genomic Medicine, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Bone and Joint Diseases, RIKEN Center for Genomic Medicine, Tokyo, Japan","institution_ids":["https://openalex.org/I4210110652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101940701","display_name":"Yusuke Nakamura","orcid":"https://orcid.org/0009-0009-8461-749X","observed_orcids":["https://orcid.org/0009-0009-8461-749X","https://orcid.org/0000-0002-2310-0587","https://orcid.org/0000-0003-2956-382X","https://orcid.org/0000-0003-4425-4216","https://orcid.org/0009-0004-6320-7030"]},"institutions":[{"id":"https://openalex.org/I4405286826","display_name":"Institute of Medical Science, The University of Tokyo","ror":"https://ror.org/0376e0j29","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405286826","https://openalex.org/I74801974"]},{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yusuke Nakamura","raw_affiliation_strings":["Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I4405286826","https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025714852","display_name":"Masatake Araki","orcid":"https://orcid.org/0000-0002-3056-2499","observed_orcids":["https://orcid.org/0000-0002-3056-2499"]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Masatake Araki","raw_affiliation_strings":["Division of Bioinformatics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026112234","display_name":"Kuniya Abe","orcid":"https://orcid.org/0000-0002-6912-8526","observed_orcids":["https://orcid.org/0000-0002-6912-8526"]},"institutions":[{"id":"https://openalex.org/I4210096362","display_name":"RIKEN BioResource Research Center","ror":"https://ror.org/00s05em53","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210096362","https://openalex.org/I4210110652"]},{"id":"https://openalex.org/I4210110652","display_name":"RIKEN","ror":"https://ror.org/01sjwvz98","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210110652"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kuniya Abe","raw_affiliation_strings":["Technology Development Team for Mammalian Cellular Dynamics, BioResource Center, RIKEN, Tsukuba, Ibaraki, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Technology Development Team for Mammalian Cellular Dynamics, BioResource Center, RIKEN, Tsukuba, Ibaraki, Japan","institution_ids":["https://openalex.org/I4210096362","https://openalex.org/I4210110652"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110039957","display_name":"K Yamamura","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405287516","display_name":"Institute of Resource Development and Analysis, Kumamoto University","ror":"https://ror.org/05d57j115","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]},{"id":"https://openalex.org/I96036126","display_name":"Kumamoto University","ror":"https://ror.org/02cgss904","country_code":"JP","type":"education","lineage":["https://openalex.org/I96036126"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Ken-ichi Yamamura","raw_affiliation_strings":["Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan","institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5110039957"],"corresponding_institution_ids":["https://openalex.org/I4405287516","https://openalex.org/I96036126"],"apc_list":{"value":3043,"currency":"USD","value_usd":3043},"apc_paid":{"value":3043,"currency":"USD","value_usd":3043},"fwci":1.1939,"has_fulltext":true,"cited_by_count":17,"citation_normalized_percentile":{"value":0.77813517,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"9","issue":"2","first_page":"e1003204","last_page":"e1003204"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10268","display_name":"Developmental Biology and Gene Regulation","score":0.9028000235557556,"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/T10268","display_name":"Developmental Biology and Gene Regulation","score":0.9028000235557556,"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/T12237","display_name":"Congenital gastrointestinal and neural anomalies","score":0.07079999893903732,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11833","display_name":"Spinal Dysraphism and Malformations","score":0.007199999876320362,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/ptf1a","display_name":"Ptf1a","score":0.9760000109672546},{"id":"https://openalex.org/keywords/ectopic-expression","display_name":"ectopic expression","score":0.8690000176429749},{"id":"https://openalex.org/keywords/transposon-insertion","display_name":"transposon insertion","score":0.828000009059906},{"id":"https://openalex.org/keywords/positional-cloning","display_name":"positional cloning","score":0.878000020980835},{"id":"https://openalex.org/keywords/anorectal-malformation","display_name":"anorectal malformation","score":0.9559999704360962},{"id":"https://openalex.org/keywords/spinal-defects","display_name":"spinal defects","score":0.9340000152587891},{"id":"https://openalex.org/keywords/notochord","display_name":"notochord","score":0.7519999742507935},{"id":"https://openalex.org/keywords/hindgut","display_name":"hindgut","score":0.6909999847412109},{"id":"https://openalex.org/keywords/cloaca","display_name":"cloaca","score":0.7960000038146973},{"id":"https://openalex.org/keywords/mesonephros","display_name":"mesonephros","score":0.9959999918937683},{"id":"https://openalex.org/keywords/cdx2","display_name":"CDX2","score":0.9819999933242798},{"id":"https://openalex.org/keywords/wnt3a","display_name":"Wnt3a","score":0.9350000023841858},{"id":"https://openalex.org/keywords/cyp26a1","display_name":"CYP26A1","score":0.9639999866485596},{"id":"https://openalex.org/keywords/mouse-embryonic-development","display_name":"mouse embryo development","score":0.5170000195503235}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9138576984405518},{"id":"https://openalex.org/C97037327","wikidata":"https://www.wikidata.org/wiki/Q5334291","display_name":"Ectopic expression","level":3,"score":0.6625553369522095},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5308367013931274},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5300740003585815},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.48879000544548035},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.4860377907752991},{"id":"https://openalex.org/C2776133846","wikidata":"https://www.wikidata.org/wiki/Q243469","display_name":"Notochord","level":4,"score":0.47758913040161133},{"id":"https://openalex.org/C3020804800","wikidata":"https://www.wikidata.org/wiki/Q5050812","display_name":"Positional cloning","level":4,"score":0.4274170398712158},{"id":"https://openalex.org/C137620995","wikidata":"https://www.wikidata.org/wiki/Q155769","display_name":"Wnt signaling pathway","level":3,"score":0.42516326904296875},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.42060983180999756},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.36498773097991943},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.33568593859672546},{"id":"https://openalex.org/C87073359","wikidata":"https://www.wikidata.org/wiki/Q33196","display_name":"Embryogenesis","level":3,"score":0.19402173161506653}],"mesh":[{"descriptor_ui":"D000071616","descriptor_name":"CDX2 Transcription Factor","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":"D001003","descriptor_name":"Anal Canal","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D001003","descriptor_name":"Anal Canal","qualifier_ui":"Q000254","qualifier_name":"growth & development","is_major_topic":true},{"descriptor_ui":"D004251","descriptor_name":"DNA Transposable Elements","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000254","qualifier_name":"growth & development","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000254","qualifier_name":"growth & development","is_major_topic":true},{"descriptor_ui":"D013623","descriptor_name":"Tail","qualifier_ui":"Q000033","qualifier_name":"anatomy & histology","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D016254","descriptor_name":"Mutagenesis, Insertional","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018507","descriptor_name":"Gene Expression Regulation, Developmental","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1371/journal.pgen.1003204","doi":"https://doi.org/10.1371/journal.pgen.1003204","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pgen.1003204","pdf_url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003204&type=printable","source":{"id":"https://openalex.org/S103870658","display_name":"PLoS Genetics","issn_l":"1553-7390","issn":["1553-7390","1553-7404"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2577572","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3578775","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"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":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3578775","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3578775","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":"PLoS Genet","raw_type":"Text"},{"id":"pmid:23436999","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23436999","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":"PLoS genetics","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.778.8640","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.778.8640","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/5c/68/pgen.1003204.PMC3578775.pdf","raw_type":"text"},{"id":"pmh:oai:doaj.org/article:9a64bfd6856e4cb1bcb46aa784c64ad0","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/9a64bfd6856e4cb1bcb46aa784c64ad0","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Genetics, Vol 9, Iss 2, p e1003204 (2013)","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/635353","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/Ectopic_Expression_of_Ptf1a_Induces_Spinal_Defects_Urogenital_Defects_and_Anorectal_Malformations_in_Danforth_s_Short_Tail_Mice__/635353","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"}],"best_oa_location":{"id":"doi:10.1371/journal.pgen.1003204","doi":"https://doi.org/10.1371/journal.pgen.1003204","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pgen.1003204","pdf_url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003204&type=printable","source":{"id":"https://openalex.org/S103870658","display_name":"PLoS Genetics","issn_l":"1553-7390","issn":["1553-7390","1553-7404"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.46810001134872437,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1272345652","display_name":"Analysis of gene-trap mouse lines disrupting long intergenic non-coding RNA genes.","funder_award_id":"23310135","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G3983451458","display_name":"Elucidation for molecular etiology of Danforth's short tail (Sd)mutant, a caudal regression model mouse","funder_award_id":"22791388","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G502354735","display_name":"Genetic studies on unique phenotypes in MSM/Ms mouse strain","funder_award_id":"21220010","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G5204774121","display_name":"Analysis of genome inactivation mechanism using chromosomal site-specific gene integration","funder_award_id":"23651189","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G7848117918","display_name":null,"funder_award_id":"24115712","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G8927098115","display_name":"Establishment of Cre-driver mouse lines by using the Exchangeable Gene Trap Ckones.","funder_award_id":"23300159","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320320912","display_name":"Ministry of Education, Culture, Sports, Science and Technology","ror":"https://ror.org/048rj2z13"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2053759809.pdf","grobid_xml":"https://content.openalex.org/works/W2053759809.grobid-xml"},"referenced_works_count":57,"referenced_works":["https://openalex.org/W877687049","https://openalex.org/W1498171091","https://openalex.org/W1499139328","https://openalex.org/W1504525216","https://openalex.org/W1572616623","https://openalex.org/W1593837562","https://openalex.org/W1768687349","https://openalex.org/W1833540866","https://openalex.org/W1891032736","https://openalex.org/W1961434948","https://openalex.org/W1967137553","https://openalex.org/W1982533604","https://openalex.org/W1993055783","https://openalex.org/W1993419401","https://openalex.org/W1993834457","https://openalex.org/W1995498327","https://openalex.org/W1998023087","https://openalex.org/W2004523798","https://openalex.org/W2009676067","https://openalex.org/W2011832001","https://openalex.org/W2034030391","https://openalex.org/W2034331579","https://openalex.org/W2036796394","https://openalex.org/W2038763845","https://openalex.org/W2048495135","https://openalex.org/W2050557699","https://openalex.org/W2052257635","https://openalex.org/W2053071361","https://openalex.org/W2063827217","https://openalex.org/W2064676044","https://openalex.org/W2071835691","https://openalex.org/W2072840658","https://openalex.org/W2081704147","https://openalex.org/W2088560595","https://openalex.org/W2099073211","https://openalex.org/W2100826819","https://openalex.org/W2101033119","https://openalex.org/W2101431474","https://openalex.org/W2102372281","https://openalex.org/W2113284270","https://openalex.org/W2118737272","https://openalex.org/W2123830540","https://openalex.org/W2128863223","https://openalex.org/W2133185031","https://openalex.org/W2134702658","https://openalex.org/W2144112229","https://openalex.org/W2146167376","https://openalex.org/W2154710417","https://openalex.org/W2156490774","https://openalex.org/W2156684099","https://openalex.org/W2157643832","https://openalex.org/W2165302354","https://openalex.org/W2166256370","https://openalex.org/W2166691102","https://openalex.org/W2331947054","https://openalex.org/W2616299576","https://openalex.org/W2767811604"],"related_works":["https://openalex.org/W2094208208","https://openalex.org/W1987958900","https://openalex.org/W2060045026","https://openalex.org/W2034331579","https://openalex.org/W2949504682","https://openalex.org/W2014824603","https://openalex.org/W2054936488","https://openalex.org/W7095698823","https://openalex.org/W2767811604","https://openalex.org/W2753105369"],"abstract_inverted_index":{"Danforth's":[0],"short":[1],"tail":[2],"(Sd)":[3],"is":[4,164],"a":[5],"semidominant":[6],"mutation":[7],"on":[8],"mouse":[9,108],"chromosome":[10],"2,":[11],"characterized":[12],"by":[13,93],"spinal":[14,185],"defects,":[15,17],"urogenital":[16],"and":[18,79,85,106,127,151,158,188],"anorectal":[19],"malformations.":[20],"However,":[21],"the":[22,26,36,40,48,55,69,87,100,123,133,142,165,169,181,184],"gene":[23,98],"responsible":[24],"for":[25],"Sd":[27,41,56,82,88,134,170,174],"phenotype":[28,89],"was":[29,90,129],"unknown.":[30],"In":[31],"this":[32,163],"study,":[33],"we":[34,46,110,160],"identified":[35,47],"molecular":[37,166],"basis":[38,167],"of":[39,50,62,68,73,95,114,118,139,149,168,173,183],"mutation.":[42],"By":[43],"positional":[44],"cloning,":[45],"insertion":[49,67],"an":[51,96],"early":[52],"transposon":[53,70],"in":[54,81,99,122,141,146],"candidate":[57,101],"locus":[58],"approximately":[59],"12-kb":[60],"upstream":[61],"Ptf1a.":[63],"We":[64],"found":[65],"that":[66,86,112,162],"caused":[71,92],"overexpression":[72],"three":[74],"neighboring":[75],"genes,":[76],"Gm13344,":[77],"Gm13336,":[78,121],"Ptf1a,":[80,115],"mutant":[83,175],"embryos":[84],"not":[91,117],"disruption":[94],"as-yet-unknown":[97],"locus.":[102],"Using":[103],"multiple":[104],"knockout":[105],"knock-in":[107],"models,":[109],"demonstrated":[111],"misexpression":[113],"but":[116],"Gm13344":[119],"or":[120],"notochord,":[124],"hindgut,":[125],"cloaca,":[126],"mesonephros":[128],"sufficient":[130],"to":[131],"replicate":[132],"phenotype.":[135,171],"The":[136],"ectopic":[137],"expression":[138,148],"Ptf1a":[140],"caudal":[143],"embryo":[144],"resulted":[145],"attenuated":[147],"Cdx2":[150],"its":[152],"downstream":[153],"target":[154],"genes":[155],"T,":[156],"Wnt3a,":[157],"Cyp26a1;":[159],"conclude":[161],"Analysis":[172],"mice":[176],"will":[177],"provide":[178],"insight":[179],"into":[180],"development":[182],"column,":[186],"anus,":[187],"kidney.":[189]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
