{"id":"https://openalex.org/W2005459546","doi":"https://doi.org/10.1182/blood-2012-09-456897","title":"Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions","display_name":"Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions","publication_year":2013,"publication_date":"2013-02-26","ids":{"openalex":"https://openalex.org/W2005459546","doi":"https://doi.org/10.1182/blood-2012-09-456897","mag":"2005459546","pmid":"https://pubmed.ncbi.nlm.nih.gov/23440242","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3709651"},"language":"en","primary_location":{"id":"doi:10.1182/blood-2012-09-456897","doi":"https://doi.org/10.1182/blood-2012-09-456897","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2012-09-456897","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://europepmc.org/articles/PMC3709651","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5072577584","display_name":"Mark Ambrose","orcid":"https://orcid.org/0000-0002-8031-8240","observed_orcids":["https://orcid.org/0000-0002-8031-8240"]},"institutions":[{"id":"https://openalex.org/I129801699","display_name":"University of Tasmania","ror":"https://ror.org/01nfmeh72","country_code":"AU","type":"education","lineage":["https://openalex.org/I129801699"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Mark Ambrose","raw_affiliation_strings":["School of Medicine, University of Tasmania, Hobart, Tasmania, Australia; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Medicine, University of Tasmania, Hobart, Tasmania, Australia; and","institution_ids":["https://openalex.org/I129801699"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5060390908","display_name":"Richard A. Gatti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard A. Gatti","raw_affiliation_strings":["Departments of Pathology & Laboratory Medicine,","Human Genetics, and","Molecular Biology Institute, UCLA School of Medicine, Los Angeles, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology & Laboratory Medicine,","institution_ids":[]},{"raw_affiliation_string":"Human Genetics, and","institution_ids":[]},{"raw_affiliation_string":"Molecular Biology Institute, UCLA School of Medicine, Los Angeles, CA","institution_ids":["https://openalex.org/I161318765"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":2.3216,"has_fulltext":false,"cited_by_count":200,"citation_normalized_percentile":{"value":0.91413136,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"121","issue":"20","first_page":"4036","last_page":"4045"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.9955999851226807,"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":0.9955999851226807,"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":0.0005000000237487257,"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/T11359","display_name":"Effects of Radiation Exposure","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2741","display_name":"Radiology, Nuclear Medicine and Imaging"},"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/ataxia-telangiectasia","display_name":"ataxia telangiectasia","score":0.9240000247955322},{"id":"https://openalex.org/keywords/ataxia-telangiectasia-mutated","display_name":"ATM kinase","score":0.9760000109672546},{"id":"https://openalex.org/keywords/dna-double-strand-break-response","display_name":"DNA double-strand break response","score":0.7599999904632568},{"id":"https://openalex.org/keywords/pi3k-related-kinases","display_name":"PI3K-related kinases","score":0.6919999718666077},{"id":"https://openalex.org/keywords/cell-cycle-checkpoints","display_name":"cell cycle checkpoints","score":0.7400000095367432},{"id":"https://openalex.org/keywords/oxidative-stress","display_name":"oxidative stress","score":0.6779999732971191},{"id":"https://openalex.org/keywords/apoptosis","display_name":"apoptosis","score":0.9390000104904175},{"id":"https://openalex.org/keywords/nonsense-mediated-mrna-decay","display_name":"nonsense-mediated mRNA decay","score":0.972000002861023},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.6930000185966492},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.7429999709129333},{"id":"https://openalex.org/keywords/radiosensitivity","display_name":"radiosensitivity","score":0.6600000262260437},{"id":"https://openalex.org/keywords/mitochondrial-dysfunction","display_name":"mitochondrial dysfunction","score":0.7120000123977661},{"id":"https://openalex.org/keywords/free-radical-dna-damage","display_name":"free radical DNA damage","score":0.6520000100135803},{"id":"https://openalex.org/keywords/transcriptional-regulation","display_name":"transcriptional regulation","score":0.43799999356269836},{"id":"https://openalex.org/keywords/insulin-resistance","display_name":"insulin resistance","score":0.45500001311302185},{"id":"https://openalex.org/keywords/immunodeficiency","display_name":"immunodeficiency","score":0.6919999718666077}],"concepts":[{"id":"https://openalex.org/C2779486608","wikidata":"https://www.wikidata.org/wiki/Q387082","display_name":"Ataxia-telangiectasia","level":4,"score":0.6692330837249756},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6631667613983154},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.521051824092865},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.48338475823402405},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4454461336135864},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4116694927215576},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.2140325903892517}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D008954","descriptor_name":"Models, Biological","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010084","descriptor_name":"Oxidation-Reduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017346","descriptor_name":"Protein Serine-Threonine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017346","descriptor_name":"Protein Serine-Threonine Kinases","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D018384","descriptor_name":"Oxidative Stress","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D018797","descriptor_name":"Cell Cycle Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018797","descriptor_name":"Cell Cycle Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D053903","descriptor_name":"DNA Breaks, Double-Stranded","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1182/blood-2012-09-456897","doi":"https://doi.org/10.1182/blood-2012-09-456897","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2012-09-456897","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2997967","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3709651","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmid:23440242","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23440242","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":"Blood","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3709651","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3709651/","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"Text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.995.7133","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.995.7133","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.bloodjournal.org/content/bloodjournal/121/20/4036.full.pdf?sso-checked%3Dtrue","raw_type":"text"},{"id":"pmh:oai:ecite.utas.edu.au:87154","doi":null,"is_oa":false,"landing_page_url":"http://ecite.utas.edu.au/87154","pdf_url":null,"source":{"id":"https://openalex.org/S4306401569","display_name":"eCite Digital Repository (University of Tasmania)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I129801699","host_organization_name":"University of Tasmania","host_organization_lineage":["https://openalex.org/I129801699"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Refereed Article"},{"id":"pmh:oai:figshare.com:article/22905296","doi":null,"is_oa":false,"landing_page_url":"https://figshare.com/articles/journal_contribution/Pathogenesis_of_ataxia-telangiectasia_the_next_generation_of_ATM_functions/22905296","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:2997967","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3709651","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9789000153541565}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3997508167","display_name":"DRUG-INDUCED ATM READTHROUGH OF PTC MUTATIONS","funder_award_id":"R01NS052528","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G758354311","display_name":"The UCLA Center for Medical Countermeasures Against Radiation","funder_award_id":"U19AI067769","funder_id":"https://openalex.org/F4320337355","funder_display_name":"National Institute of Allergy and Infectious Diseases"}],"funders":[{"id":"https://openalex.org/F4320332505","display_name":"U.S. Public Health Service","ror":"https://ror.org/05xf94514"},{"id":"https://openalex.org/F4320337355","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":138,"referenced_works":["https://openalex.org/W91921689","https://openalex.org/W1479769602","https://openalex.org/W1483242733","https://openalex.org/W1487384429","https://openalex.org/W1535516541","https://openalex.org/W1547479102","https://openalex.org/W1604747908","https://openalex.org/W1608755692","https://openalex.org/W1631957153","https://openalex.org/W1640182255","https://openalex.org/W1669454687","https://openalex.org/W1966661268","https://openalex.org/W1966706887","https://openalex.org/W1970965314","https://openalex.org/W1978727038","https://openalex.org/W1979024734","https://openalex.org/W1980737084","https://openalex.org/W1981844581","https://openalex.org/W1983218764","https://openalex.org/W1983577458","https://openalex.org/W1984290310","https://openalex.org/W1985629790","https://openalex.org/W1987325894","https://openalex.org/W1988498014","https://openalex.org/W1988524165","https://openalex.org/W1989710643","https://openalex.org/W1990319128","https://openalex.org/W1992115542","https://openalex.org/W1996242303","https://openalex.org/W1997487041","https://openalex.org/W1997853066","https://openalex.org/W1999119036","https://openalex.org/W1999441797","https://openalex.org/W2000383933","https://openalex.org/W2001403475","https://openalex.org/W2001859397","https://openalex.org/W2004486431","https://openalex.org/W2004991378","https://openalex.org/W2007815419","https://openalex.org/W2008100923","https://openalex.org/W2011089421","https://openalex.org/W2011176464","https://openalex.org/W2011788692","https://openalex.org/W2018468994","https://openalex.org/W2019362208","https://openalex.org/W2020822239","https://openalex.org/W2022451432","https://openalex.org/W2022811243","https://openalex.org/W2024781204","https://openalex.org/W2030274771","https://openalex.org/W2032499453","https://openalex.org/W2035006102","https://openalex.org/W2035154953","https://openalex.org/W2036335278","https://openalex.org/W2041897873","https://openalex.org/W2042480414","https://openalex.org/W2042515294","https://openalex.org/W2043027414","https://openalex.org/W2045164156","https://openalex.org/W2046283209","https://openalex.org/W2046994769","https://openalex.org/W2047212040","https://openalex.org/W2048589996","https://openalex.org/W2049151225","https://openalex.org/W2054571064","https://openalex.org/W2060001445","https://openalex.org/W2060917950","https://openalex.org/W2062515127","https://openalex.org/W2063221926","https://openalex.org/W2064196546","https://openalex.org/W2064377499","https://openalex.org/W2065916701","https://openalex.org/W2066930016","https://openalex.org/W2071656187","https://openalex.org/W2072261604","https://openalex.org/W2075385153","https://openalex.org/W2077577291","https://openalex.org/W2078544177","https://openalex.org/W2079052854","https://openalex.org/W2082139407","https://openalex.org/W2084666187","https://openalex.org/W2084966416","https://openalex.org/W2085453224","https://openalex.org/W2086502943","https://openalex.org/W2087367816","https://openalex.org/W2088406182","https://openalex.org/W2089368550","https://openalex.org/W2090444428","https://openalex.org/W2093912636","https://openalex.org/W2095014563","https://openalex.org/W2101770383","https://openalex.org/W2102799140","https://openalex.org/W2102891343","https://openalex.org/W2104924004","https://openalex.org/W2106925712","https://openalex.org/W2111245253","https://openalex.org/W2111768081","https://openalex.org/W2112808167","https://openalex.org/W2113966521","https://openalex.org/W2115157125","https://openalex.org/W2115708356","https://openalex.org/W2117664165","https://openalex.org/W2118609150","https://openalex.org/W2120886826","https://openalex.org/W2126045962","https://openalex.org/W2127501954","https://openalex.org/W2128252882","https://openalex.org/W2138226825","https://openalex.org/W2140913553","https://openalex.org/W2146355613","https://openalex.org/W2147571613","https://openalex.org/W2154500154","https://openalex.org/W2159168998","https://openalex.org/W2161180058","https://openalex.org/W2162897961","https://openalex.org/W2163666272","https://openalex.org/W2164518522","https://openalex.org/W2164750642","https://openalex.org/W2165543647","https://openalex.org/W2169051775","https://openalex.org/W2169387751","https://openalex.org/W2169819365","https://openalex.org/W2172192445","https://openalex.org/W2298496625","https://openalex.org/W2315293508","https://openalex.org/W2324837838","https://openalex.org/W2336907516","https://openalex.org/W2398064360","https://openalex.org/W2586077729","https://openalex.org/W3209992856","https://openalex.org/W4211080783","https://openalex.org/W4294184109","https://openalex.org/W6607685972","https://openalex.org/W6629119332","https://openalex.org/W6636034606","https://openalex.org/W6647563211","https://openalex.org/W6683837952","https://openalex.org/W6697981205"],"related_works":["https://openalex.org/W7096018049","https://openalex.org/W2034783587","https://openalex.org/W2137045855","https://openalex.org/W2462817895","https://openalex.org/W2912183228","https://openalex.org/W2766950809","https://openalex.org/W2618511948","https://openalex.org/W1971850308","https://openalex.org/W1997398502","https://openalex.org/W2101719051"],"abstract_inverted_index":{"In":[0],"1988,":[1],"the":[2,6,46,91,110,152,166],"gene":[3,87],"responsible":[4],"for":[5],"autosomal":[7],"recessive":[8],"disease":[9],"ataxia-":[10],"telangiectasia":[11,34],"(A-T)":[12],"was":[13,18],"localized":[14],"to":[15,51,93,105,128,159,184],"11q22.3-23.1.":[16],"It":[17],"eventually":[19],"cloned":[20],"in":[21,30,45,82,156],"1995.":[22],"Many":[23],"independent":[24],"laboratories":[25],"have":[26],"since":[27],"demonstrated":[28],"that":[29,42,75,172,178],"replicating":[31],"cells,":[32],"ataxia":[33],"mutated":[35],"(ATM)":[36],"is":[37,43,56,151],"predominantly":[38],"a":[39,57],"nuclear":[40,85],"protein":[41,73],"involved":[44,81],"early":[47],"recognition":[48],"and":[49,77,89,99,118,130,141,144,162,165],"response":[50,92],"double-stranded":[52],"DNA":[53,176],"breaks.":[54],"ATM":[55,61],"high-molecular-weight":[58],"PI3K-family":[59],"kinase.":[60],"also":[62],"plays":[63],"many":[64],"important":[65],"cytoplasmic":[66],"roles":[67,103],"where":[68],"it":[69],"phosphorylates":[70],"hundreds":[71],"of":[72,169],"substrates":[74],"activate":[76],"coordinate":[78],"cell-signaling":[79],"pathways":[80],"cell-cycle":[83],"checkpoints,":[84],"localization,":[86],"transcription":[88],"expression,":[90],"oxidative":[94],"stress,":[95],"apoptosis,":[96],"nonsense-mediated":[97],"decay,":[98],"others.":[100],"Appreciating":[101],"these":[102],"helps":[104],"provide":[106],"new":[107],"insights":[108],"into":[109],"diverse":[111],"clinical":[112],"phenotypes":[113],"exhibited":[114],"by":[115],"A-T":[116],"patients-children":[117],"adults":[119],"alike-which":[120],"include":[121],"neurodegeneration,":[122],"high":[123],"cancer":[124],"risk,":[125],"adverse":[126],"reactions":[127],"radiation":[129],"chemotherapy,":[131],"pulmonary":[132],"failure,":[133],"immunodeficiency,":[134],"glucose":[135],"transporter":[136],"aberrations,":[137],"insulin-resistant":[138],"diabetogenic":[139],"responses,":[140],"distinct":[142],"chromosomal":[143],"chromatin":[145],"changes.":[146],"An":[147],"exciting":[148],"recent":[149],"development":[150],"ATM-dependent":[153],"pathology":[154],"encountered":[155],"mitochondria,":[157],"leading":[158],"inefficient":[160],"respiration":[161],"energy":[163],"metabolism":[164],"excessive":[167],"generation":[168],"free":[170],"radicals":[171],"themselves":[173],"create":[174],"life-threatening":[175],"lesions":[177],"must":[179],"be":[180],"repaired":[181],"within":[182],"minutes":[183],"minimize":[185],"individual":[186],"cell":[187],"losses.":[188]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":11},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":11},{"year":2022,"cited_by_count":8},{"year":2021,"cited_by_count":14},{"year":2020,"cited_by_count":18},{"year":2019,"cited_by_count":13},{"year":2018,"cited_by_count":16},{"year":2017,"cited_by_count":21},{"year":2016,"cited_by_count":27},{"year":2015,"cited_by_count":21},{"year":2014,"cited_by_count":24},{"year":2013,"cited_by_count":6}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
