Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2008283905', 'doi': 'https://doi.org/10.1016/j.dnarep.2004.03.004', 'title': 'Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks', 'display_name': 'Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks', 'publication_year': 2004, 'publication_date': '2004-04-10', 'ids': {'openalex': 'https://openalex.org/W2008283905', 'doi': 'https://doi.org/10.1016/j.dnarep.2004.03.004', 'mag': '2008283905', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/15279809'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.dnarep.2004.03.004', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S3892243', 'display_name': 'DNA repair', 'issn_l': '1568-7856', 'issn': ['1568-7856', '1568-7864'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, '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': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'review', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5060871912', 'display_name': 'Martin Digweed', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I7877124', 'display_name': 'Charité - Universitätsmedizin Berlin', 'ror': 'https://ror.org/001w7jn25', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I7877124']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Martin Digweed', 'raw_affiliation_strings': ['Institute of Human Genetics, Charité-University Medicine Berlin, Augustenburger platz 1, Berlin 13353, Germany. [email protected]'], 'affiliations': [{'raw_affiliation_string': 'Institute of Human Genetics, Charité-University Medicine Berlin, Augustenburger platz 1, Berlin 13353, Germany. [email protected]', 'institution_ids': ['https://openalex.org/I7877124']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5062257202', 'display_name': 'Karl Sperling', 'orcid': 'https://orcid.org/0000-0003-2305-4370'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Karl Sperling', 'raw_affiliation_strings': [], 'affiliations': []}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 3770, 'currency': 'USD', 'value_usd': 3770, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 2.013, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 243, 'citation_normalized_percentile': {'value': 0.99967, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 98, 'max': 99}, 'biblio': {'volume': '3', 'issue': '8-9', 'first_page': '1207', 'last_page': '1217'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10123', 'display_name': 'Molecular Mechanisms of DNA Damage Response', 'score': 1.0, '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': 'Molecular Mechanisms of DNA Damage Response', 'score': 1.0, '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/T10433', 'display_name': 'Genotoxicity and Carcinogenesis Mechanisms', 'score': 0.9977, 'subfield': {'id': 'https://openalex.org/subfields/1306', 'display_name': 'Cancer Research'}, '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/T12828', 'display_name': 'Mutation Breeding for Crop Improvement', 'score': 0.9879, 'subfield': {'id': 'https://openalex.org/subfields/1110', 'display_name': 'Plant Science'}, 'field': {'id': 'https://openalex.org/fields/11', 'display_name': 'Agricultural and Biological Sciences'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/nijmegen-breakage-syndrome', 'display_name': 'Nijmegen breakage syndrome', 'score': 0.9974258}, {'id': 'https://openalex.org/keywords/chromosome-instability', 'display_name': 'Chromosome instability', 'score': 0.58529305}, {'id': 'https://openalex.org/keywords/dna-damage', 'display_name': 'DNA Damage', 'score': 0.522215}, {'id': 'https://openalex.org/keywords/rad50', 'display_name': 'Rad50', 'score': 0.52067554}, {'id': 'https://openalex.org/keywords/microcephaly', 'display_name': 'Microcephaly', 'score': 0.51298827}, {'id': 'https://openalex.org/keywords/bloom-syndrome', 'display_name': 'Bloom syndrome', 'score': 0.47839653}], 'concepts': [{'id': 'https://openalex.org/C2777136964', 'wikidata': 'https://www.wikidata.org/wiki/Q1250362', 'display_name': 'Nijmegen breakage syndrome', 'level': 5, 'score': 0.9974258}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.7858634}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.5938936}, {'id': 'https://openalex.org/C140752955', 'wikidata': 'https://www.wikidata.org/wiki/Q1087752', 'display_name': 'Chromosome instability', 'level': 4, 'score': 0.58529305}, {'id': 'https://openalex.org/C2775984157', 'wikidata': 'https://www.wikidata.org/wiki/Q18035037', 'display_name': 'Rad50', 'level': 5, 'score': 0.52067554}, {'id': 'https://openalex.org/C2776395126', 'wikidata': 'https://www.wikidata.org/wiki/Q431643', 'display_name': 'Microcephaly', 'level': 2, 'score': 0.51298827}, {'id': 'https://openalex.org/C2779486608', 'wikidata': 'https://www.wikidata.org/wiki/Q387082', 'display_name': 'Ataxia-telangiectasia', 'level': 4, 'score': 0.48086172}, {'id': 'https://openalex.org/C2779013463', 'wikidata': 'https://www.wikidata.org/wiki/Q1469646', 'display_name': 'Bloom syndrome', 'level': 5, 'score': 0.47839653}, {'id': 'https://openalex.org/C134935766', 'wikidata': 'https://www.wikidata.org/wiki/Q210538', 'display_name': 'DNA repair', 'level': 3, 'score': 0.42628893}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.3670221}, {'id': 'https://openalex.org/C30481170', 'wikidata': 'https://www.wikidata.org/wiki/Q37748', 'display_name': 'Chromosome', 'level': 3, 'score': 0.36511043}, {'id': 'https://openalex.org/C143425029', 'wikidata': 'https://www.wikidata.org/wiki/Q5205747', 'display_name': 'DNA damage', 'level': 3, 'score': 0.32129797}, {'id': 'https://openalex.org/C552990157', 'wikidata': 'https://www.wikidata.org/wiki/Q7430', 'display_name': 'DNA', 'level': 2, 'score': 0.30951104}, {'id': 'https://openalex.org/C94966510', 'wikidata': 'https://www.wikidata.org/wiki/Q2252764', 'display_name': 'DNA-binding protein', 'level': 4, 'score': 0.08602536}, {'id': 'https://openalex.org/C161223559', 'wikidata': 'https://www.wikidata.org/wiki/Q138864', 'display_name': 'Helicase', 'level': 4, 'score': 0.08497149}, {'id': 'https://openalex.org/C67705224', 'wikidata': 'https://www.wikidata.org/wiki/Q11053', 'display_name': 'RNA', 'level': 3, 'score': 0.0}, {'id': 'https://openalex.org/C86339819', 'wikidata': 'https://www.wikidata.org/wiki/Q407384', 'display_name': 'Transcription factor', 'level': 3, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D018797', 'descriptor_name': 'Cell Cycle Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D004249', 'descriptor_name': 'DNA Damage', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D008831', 'descriptor_name': 'Microcephaly', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009687', 'descriptor_name': 'Nuclear Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D018797', 'descriptor_name': 'Cell Cycle Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002898', 'descriptor_name': 'Chromosomes, Human, Pair 8', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002898', 'descriptor_name': 'Chromosomes, Human, Pair 8', 'qualifier_ui': 'Q000648', 'qualifier_name': 'ultrastructure', 'is_major_topic': False}, {'descriptor_ui': 'D019066', 'descriptor_name': 'Facies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016368', 'descriptor_name': 'Frameshift Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020022', 'descriptor_name': 'Genetic Predisposition to Disease', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006130', 'descriptor_name': 'Growth Disorders', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006130', 'descriptor_name': 'Growth Disorders', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D006720', 'descriptor_name': 'Homozygote', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007153', 'descriptor_name': 'Immunologic Deficiency Syndromes', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007153', 'descriptor_name': 'Immunologic Deficiency Syndromes', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D008223', 'descriptor_name': 'Lymphoma', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008223', 'descriptor_name': 'Lymphoma', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D008540', 'descriptor_name': 'Meiosis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008831', 'descriptor_name': 'Microcephaly', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009687', 'descriptor_name': 'Nuclear Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011836', 'descriptor_name': 'Radiation Tolerance', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011836', 'descriptor_name': 'Radiation Tolerance', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D011839', 'descriptor_name': 'Radiation, Ionizing', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012306', 'descriptor_name': 'Risk', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D013577', 'descriptor_name': 'Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.dnarep.2004.03.004', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S3892243', 'display_name': 'DNA repair', 'issn_l': '1568-7856', 'issn': ['1568-7856', '1568-7864'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, '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': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/15279809', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [{'score': 0.84, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 84, 'referenced_works': ['https://openalex.org/W1486192115', 'https://openalex.org/W1486351605', 'https://openalex.org/W1511602705', 'https://openalex.org/W1512900561', 'https://openalex.org/W155289033', 'https://openalex.org/W1558103766', 'https://openalex.org/W1568996527', 'https://openalex.org/W1588888865', 'https://openalex.org/W1593021735', 'https://openalex.org/W1633875338', 'https://openalex.org/W1964140277', 'https://openalex.org/W1966200086', 'https://openalex.org/W1969282814', 'https://openalex.org/W1970102593', 'https://openalex.org/W1970426490', 'https://openalex.org/W1970984376', 'https://openalex.org/W1974088118', 'https://openalex.org/W1974968957', 'https://openalex.org/W1977158706', 'https://openalex.org/W1977621834', 'https://openalex.org/W1980632664', 'https://openalex.org/W1984956077', 'https://openalex.org/W1985680820', 'https://openalex.org/W1988497624', 'https://openalex.org/W1989291908', 'https://openalex.org/W1995006694', 'https://openalex.org/W2022433764', 'https://openalex.org/W2023418448', 'https://openalex.org/W2034902271', 'https://openalex.org/W2036945078', 'https://openalex.org/W2037445936', 'https://openalex.org/W2037995441', 'https://openalex.org/W2041358036', 'https://openalex.org/W2044298031', 'https://openalex.org/W2044911046', 'https://openalex.org/W2045526190', 'https://openalex.org/W2046461941', 'https://openalex.org/W2051808727', 'https://openalex.org/W2052121157', 'https://openalex.org/W2054123861', 'https://openalex.org/W2061097562', 'https://openalex.org/W2066398378', 'https://openalex.org/W2072339734', 'https://openalex.org/W2072877304', 'https://openalex.org/W2076116565', 'https://openalex.org/W2077260273', 'https://openalex.org/W2077538526', 'https://openalex.org/W2087110475', 'https://openalex.org/W2087505934', 'https://openalex.org/W2089721587', 'https://openalex.org/W2095712783', 'https://openalex.org/W2099234372', 'https://openalex.org/W2104788350', 'https://openalex.org/W2105734593', 'https://openalex.org/W2110820772', 'https://openalex.org/W2115607227', 'https://openalex.org/W2118457124', 'https://openalex.org/W2118609150', 'https://openalex.org/W2120365943', 'https://openalex.org/W2122716975', 'https://openalex.org/W2123154444', 'https://openalex.org/W2123909581', 'https://openalex.org/W2124837740', 'https://openalex.org/W2126789598', 'https://openalex.org/W2128717251', 'https://openalex.org/W2128906049', 'https://openalex.org/W2133291090', 'https://openalex.org/W2133554835', 'https://openalex.org/W2142979042', 'https://openalex.org/W2152054208', 'https://openalex.org/W2155836063', 'https://openalex.org/W2157668272', 'https://openalex.org/W2157935839', 'https://openalex.org/W2159076267', 'https://openalex.org/W2162127207', 'https://openalex.org/W2163433013', 'https://openalex.org/W2165907297', 'https://openalex.org/W2168225429', 'https://openalex.org/W2168582246', 'https://openalex.org/W2170122994', 'https://openalex.org/W2171879319', 'https://openalex.org/W2315384287', 'https://openalex.org/W2436875943', 'https://openalex.org/W4249316951'], 'related_works': ['https://openalex.org/W4249653649', 'https://openalex.org/W2418219362', 'https://openalex.org/W2414306855', 'https://openalex.org/W2142979042', 'https://openalex.org/W2098951389', 'https://openalex.org/W2091216098', 'https://openalex.org/W2076116565', 'https://openalex.org/W2071731864', 'https://openalex.org/W1910721657', 'https://openalex.org/W1618806168'], 'abstract_inverted_index': {'Nijmegen': [0, 33, 120], 'breakage': [1, 34, 121], 'syndrome': [2, 35], 'is': [3, 54, 98], 'a': [4, 12, 24, 37, 63, 78, 81, 90], 'rare': [5], 'autosomal': [6], 'recessive': [7], 'genetic': [8], 'disease': [9], 'belonging': [10], 'to': [11, 23, 89, 100, 107], 'group': [13], 'of': [14, 39, 73, 83, 119, 127, 145], 'disorders': [15], 'often': [16], 'called': [17], 'chromosome': [18, 58], 'instability': [19], 'syndromes.': [20], 'In': [21], 'addition': [22], 'characteristic': [25], 'facial': [26], 'appearance': [27], 'and': [28, 47, 60, 92, 136], 'microcephaly,': [29], 'patients': [30, 74], 'suffering': [31], 'from': [32], 'have': [36], 'range': [38], 'symptoms': [40], 'including': [41], 'radiosensitivity,': [42], 'immunodeficiency,': [43], 'increased': [44], 'cancer': [45], 'risk': [46], 'growth': [48], 'retardation.': [49], 'The': [50, 95], 'underlying': [51], 'gene,': [52], 'NBS1,': [53], 'located': [55], 'on': [56, 132, 141], 'human': [57], '8q21': [59], 'codes': [61], 'for': [62, 77, 116], 'protein': [64, 93, 96], 'product': [65], 'termed': [66], 'nibrin,': [67], 'Nbs1': [68], 'or': [69], 'p95.': [70], 'Over': [71], '90%': [72], 'are': [75], 'homozygous': [76], 'founder': [79], 'mutation:': [80], 'deletion': [82], 'five': [84], 'base': [85], 'pairs': [86], 'which': [87], 'leads': [88], 'framehift': [91], 'truncation.': [94], 'nibrin/Nbs1': [97], 'suspected': [99], 'be': [101], 'involved': [102], 'in': [103], 'the': [104, 117, 128, 133, 142, 146], 'cellular': [105], 'response': [106], 'DNA': [108], 'damage': [109], 'caused': [110], 'by': [111], 'ionising': [112], 'irradiation,': [113], 'thus': [114], 'accounting': [115], 'radiosensitivity': [118], 'syndrome.': [122], 'We': [123], 'review': [124], 'here': [125], 'some': [126], 'more': [129], 'recent': [130], 'findings': [131], 'NBS1': [134], 'gene': [135], 'discuss': [137], 'how': [138], 'they': [139], 'impinge': [140], 'clinical': [143], 'manifestation': [144], 'disease.': [147]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2008283905', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2023, 'cited_by_count': 6}, {'year': 2022, 'cited_by_count': 7}, {'year': 2021, 'cited_by_count': 6}, {'year': 2020, 'cited_by_count': 5}, {'year': 2019, 'cited_by_count': 11}, {'year': 2018, 'cited_by_count': 6}, {'year': 2017, 'cited_by_count': 10}, {'year': 2016, 'cited_by_count': 9}, {'year': 2015, 'cited_by_count': 10}, {'year': 2014, 'cited_by_count': 10}, {'year': 2013, 'cited_by_count': 16}, {'year': 2012, 'cited_by_count': 12}], 'updated_date': '2024-09-20T01:24:39.865842', 'created_date': '2016-06-24'}