{"id":"https://openalex.org/W2013138965","doi":"https://doi.org/10.1002/ajmg.a.36546","title":"Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia\u2010telangiectasia\u2010like disorder: Potential diagnostic clues?","display_name":"Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia\u2010telangiectasia\u2010like disorder: Potential diagnostic clues?","publication_year":2014,"publication_date":"2014-04-14","ids":{"openalex":"https://openalex.org/W2013138965","doi":"https://doi.org/10.1002/ajmg.a.36546","mag":"2013138965","pmid":"https://pubmed.ncbi.nlm.nih.gov/24733832"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.36546","doi":"https://doi.org/10.1002/ajmg.a.36546","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.36546","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://repository.kulib.kyoto-u.ac.jp/bitstreams/8daa359a-1f35-4f86-9da5-3cef5d4913c0/download","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5074551476","display_name":"Takeshi Yoshida","orcid":"https://orcid.org/0000-0003-0992-064X","observed_orcids":["https://orcid.org/0000-0003-0992-064X"]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takeshi Yoshida","raw_affiliation_strings":["Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan"],"raw_orcid":"https://orcid.org/0000-0003-0992-064X","affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan","institution_ids":["https://openalex.org/I22299242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002084970","display_name":"Tomonari Awaya","orcid":"https://orcid.org/0000-0002-9004-3172","observed_orcids":["https://orcid.org/0000-0002-9004-3172"]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Tomonari Awaya","raw_affiliation_strings":["Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan","institution_ids":["https://openalex.org/I22299242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110516144","display_name":"Minoru Shibata","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Minoru Shibata","raw_affiliation_strings":["Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan","institution_ids":["https://openalex.org/I22299242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109410990","display_name":"Takeo Kato","orcid":"https://orcid.org/0000-0003-2218-0746","observed_orcids":["https://orcid.org/0000-0003-2218-0746"]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takeo Kato","raw_affiliation_strings":["Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan","institution_ids":["https://openalex.org/I22299242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088340066","display_name":"Hironao Numabe","orcid":"https://orcid.org/0000-0003-2661-8047","observed_orcids":["https://orcid.org/0000-0003-2661-8047"]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]},{"id":"https://openalex.org/I26120043","display_name":"Ochanomizu University","ror":"https://ror.org/03599d813","country_code":"JP","type":"education","lineage":["https://openalex.org/I26120043"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hironao Numabe","raw_affiliation_strings":["Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan","Graduate School of Humanities and Sciences, Ochanomizu University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan","institution_ids":["https://openalex.org/I22299242"]},{"raw_affiliation_string":"Graduate School of Humanities and Sciences, Ochanomizu University, Tokyo, Japan","institution_ids":["https://openalex.org/I26120043"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059971847","display_name":"Junya Kobayashi","orcid":"https://orcid.org/0000-0003-4645-7500","observed_orcids":["https://orcid.org/0000-0003-4645-7500"]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]},{"id":"https://openalex.org/I4405285708","display_name":"Radiation Biology Center, Kyoto University","ror":"https://ror.org/0006k6163","country_code":"JP","type":"facility","lineage":["https://openalex.org/I22299242","https://openalex.org/I4405285708"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Junya Kobayashi","raw_affiliation_strings":["Department of Genome Repair Dynamics, Radiation Biology Center, Kyoto University, Kyoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Repair Dynamics, Radiation Biology Center, Kyoto University, Kyoto, Japan","institution_ids":["https://openalex.org/I22299242","https://openalex.org/I4405285708"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102057867","display_name":"Kenshi Komatsu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]},{"id":"https://openalex.org/I4405285708","display_name":"Radiation Biology Center, Kyoto University","ror":"https://ror.org/0006k6163","country_code":"JP","type":"facility","lineage":["https://openalex.org/I22299242","https://openalex.org/I4405285708"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kenshi Komatsu","raw_affiliation_strings":["Department of Genome Repair Dynamics, Radiation Biology Center, Kyoto University, Kyoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Repair Dynamics, Radiation Biology Center, Kyoto University, Kyoto, Japan","institution_ids":["https://openalex.org/I22299242","https://openalex.org/I4405285708"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113926933","display_name":"Toshio Heike","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Toshio Heike","raw_affiliation_strings":["Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan","institution_ids":["https://openalex.org/I22299242"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5002084970"],"corresponding_institution_ids":["https://openalex.org/I22299242"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.1041,"has_fulltext":true,"cited_by_count":13,"citation_normalized_percentile":{"value":0.37855787,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"164","issue":"7","first_page":"1830","last_page":"1834"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.8521000146865845,"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/T10123","display_name":"DNA Repair Mechanisms","score":0.8521000146865845,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.040800001472234726,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.030799999833106995,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/ataxia-telangiectasia-like-disorder","display_name":"ataxia-telangiectasia-like disorder","score":0.996999979019165},{"id":"https://openalex.org/keywords/hypergonadotropic-hypogonadism","display_name":"hypergonadotropic hypogonadism","score":0.9490000009536743},{"id":"https://openalex.org/keywords/hypersegmented-neutrophils","display_name":"hypersegmented neutrophils","score":0.9950000047683716},{"id":"https://openalex.org/keywords/double-strand-break-repair","display_name":"DNA double-strand break repair","score":0.9649999737739563},{"id":"https://openalex.org/keywords/atm-phosphorylation","display_name":"ATM phosphorylation","score":0.765999972820282},{"id":"https://openalex.org/keywords/cerebellar-ataxia","display_name":"cerebellar ataxia","score":0.9160000085830688},{"id":"https://openalex.org/keywords/primary-amenorrhea","display_name":"primary amenorrhea","score":0.8930000066757202},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7089999914169312},{"id":"https://openalex.org/keywords/differential-diagnosis-of-ataxia","display_name":"differential diagnosis of ataxia","score":0.8069999814033508}],"concepts":[{"id":"https://openalex.org/C2779486608","wikidata":"https://www.wikidata.org/wiki/Q387082","display_name":"Ataxia-telangiectasia","level":4,"score":0.6826832294464111},{"id":"https://openalex.org/C2780302854","wikidata":"https://www.wikidata.org/wiki/Q5958036","display_name":"Hypergonadotropic hypogonadism","level":3,"score":0.628639817237854},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.5573077201843262},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.48733028769493103},{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.46533718705177307},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.45428466796875},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.41655072569847107},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3797406554222107},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.35939204692840576},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.35767707228660583},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2468266487121582},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13130652904510498},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1268545389175415},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.1035812497138977},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.0910986065864563},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.08457845449447632},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.0657670795917511}],"mesh":[{"descriptor_ui":"D000076228","descriptor_name":"MRE11 Homologue Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D007006","descriptor_name":"Hypogonadism","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009504","descriptor_name":"Neutrophils","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1002/ajmg.a.36546","doi":"https://doi.org/10.1002/ajmg.a.36546","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.36546","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:24733832","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24733832","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":"American journal of medical genetics. Part A","raw_type":"Case Reports"},{"id":"pmh:oai:irdb.nii.ac.jp:01221:0000148700","doi":null,"is_oa":true,"landing_page_url":"https://repository.kulib.kyoto-u.ac.jp/bitstreams/8daa359a-1f35-4f86-9da5-3cef5d4913c0/download","pdf_url":"https://repository.kulib.kyoto-u.ac.jp/bitstreams/8daa359a-1f35-4f86-9da5-3cef5d4913c0/download","source":{"id":"https://openalex.org/S7407056385","display_name":"Institutional Repositories DataBase (IRDB)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I184597095","host_organization_name":"National Institute of Informatics","host_organization_lineage":["https://openalex.org/I184597095"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American journal of medical genetics. Part A","raw_type":"journal article"},{"id":"pmh:oai:repository.kulib.kyoto-u.ac.jp:2433/188907","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/2433/188907","pdf_url":"https://repository.kulib.kyoto-u.ac.jp/dspace/bitstream/2433/188907/1/ajmg.a.36546.pdf","source":{"id":"https://openalex.org/S4306401454","display_name":"Kyoto University Research Information Repository (Kyoto University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I22299242","host_organization_name":"Kyoto University","host_organization_lineage":["https://openalex.org/I22299242"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.906.885","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.906.885","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://repository.kulib.kyoto-u.ac.jp/dspace/bitstream/2433/188907/1/ajmg.a.36546.pdf","raw_type":"text"}],"best_oa_location":{"id":"pmh:oai:irdb.nii.ac.jp:01221:0000148700","doi":null,"is_oa":true,"landing_page_url":"https://repository.kulib.kyoto-u.ac.jp/bitstreams/8daa359a-1f35-4f86-9da5-3cef5d4913c0/download","pdf_url":"https://repository.kulib.kyoto-u.ac.jp/bitstreams/8daa359a-1f35-4f86-9da5-3cef5d4913c0/download","source":{"id":"https://openalex.org/S7407056385","display_name":"Institutional Repositories DataBase (IRDB)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I184597095","host_organization_name":"National Institute of Informatics","host_organization_lineage":["https://openalex.org/I184597095"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American journal of medical genetics. Part A","raw_type":"journal article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9940000176429749,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G1740178884","display_name":"The experimental verification of saturated repair model by using repair reporter genes.","funder_award_id":"26550025","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G1887014473","display_name":"Role of NBS1 C-terminal domain in genomic stability","funder_award_id":"26241013","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G6429084381","display_name":"Contribution of translesional DNA synthesis to UV-induced damage during embryogenesis and at low dose-rate.","funder_award_id":"25550025","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G7452512971","display_name":"Role of nucleolin in maintenance of genomic stability through chromatin remodeling","funder_award_id":"24310041","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2013138965.pdf","grobid_xml":"https://content.openalex.org/works/W2013138965.grobid-xml"},"referenced_works_count":13,"referenced_works":["https://openalex.org/W1971843144","https://openalex.org/W1981774082","https://openalex.org/W2037519090","https://openalex.org/W2038780921","https://openalex.org/W2062499257","https://openalex.org/W2066872971","https://openalex.org/W2067551497","https://openalex.org/W2070701835","https://openalex.org/W2105352484","https://openalex.org/W2145939467","https://openalex.org/W2159168998","https://openalex.org/W2164518522","https://openalex.org/W2170321545"],"related_works":["https://openalex.org/W7096599144","https://openalex.org/W3095414893","https://openalex.org/W2306822451","https://openalex.org/W1550280447","https://openalex.org/W1971008304","https://openalex.org/W4386962496","https://openalex.org/W3096846034","https://openalex.org/W2293948944","https://openalex.org/W6963713857","https://openalex.org/W2137091485"],"abstract_inverted_index":{"Ataxia-telangiectasia-like":[0],"disorder":[1],"(ATLD)":[2],"is":[3,17],"a":[4,56,135],"rare":[5],"autosomal":[6],"recessive":[7],"disorder,":[8,72],"and":[9,47,64,73,95,114,125,168,185,189],"has":[10],"symptoms":[11],"similar":[12],"to":[13,34,51,77],"ataxia-telangiectasia":[14],"(AT).":[15],"ATLD":[16,36,58,79,181],"caused":[18],"by":[19],"mutations":[20],"in":[21,26,70,142,152],"the":[22,100,143,153,186],"MRE11":[23,124,144],"gene,":[24,145],"involved":[25],"DNA":[27],"double-strand":[28],"break":[29],"repair":[30],"(DSBR).":[31],"In":[32,171],"contrast":[33],"AT,":[35],"patients":[37,175],"lack":[38],"key":[39],"clinical":[40],"features,":[41],"such":[42],"as":[43],"telangiectasia":[44],"or":[45],"immunodeficiency,":[46],"are":[48],"therefore":[49],"difficult":[50],"be":[52,163,183],"diagnosed.":[53],"We":[54],"report":[55],"female":[57],"patient":[59,84,157],"presenting":[60,156],"with":[61,111,165,176],"hypergonadotropic":[62,109,166],"hypogonadism":[63,110,167],"hypersegmented":[65,115],"neutrophils,":[66],"previously":[67],"undescribed":[68],"features":[69],"this":[71],"potential":[74],"diagnostic":[75],"clues":[76],"differentiate":[78],"from":[80,90],"other":[81,148],"conditions.":[82],"The":[83],"showed":[85],"slowly":[86],"progressive":[87],"cerebellar":[88],"ataxia":[89,177],"2":[91],"years":[92],"of":[93,99,123,127,178],"age,":[94],"MRI":[96],"revealed":[97],"atrophy":[98],"cerebellum,":[101],"oculomotor":[102],"apraxia,":[103],"mild":[104],"cognitive":[105],"impairment,":[106],"writing":[107],"dystonia,":[108],"primary":[112],"amenorrhea,":[113],"neutrophils.":[116],"Western":[117],"blot":[118],"assay":[119],"demonstrated":[120],"total":[121],"loss":[122],"reduction":[126],"ATM-dependent":[128],"phosphorylation;":[129],"thus,":[130],"we":[131],"diagnosed":[132],"ATLD.":[133],"Genetically,":[134],"novel":[136],"missense":[137],"mutation":[138,149],"(c.140C>T)":[139],"was":[140,150],"detected":[141],"but":[146],"no":[147],"found":[151],"patient.":[154],"Our":[155],"suggests":[158],"that":[159],"impaired":[160],"DSBR":[161],"may":[162],"associated":[164],"neutrophil":[169],"hypersegmentation.":[170],"conclusion,":[172],"when":[173],"assessing":[174],"unknown":[179],"cause,":[180],"should":[182],"considered,":[184],"gonadal":[187],"state":[188],"peripheral":[190],"blood":[191],"smear":[192],"samples":[193],"evaluated.":[194]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}