Publication Information

{'id': 'https://openalex.org/W2007255299', 'doi': 'https://doi.org/10.1073/pnas.1102198108', 'title': 'Missense mutations in the <i>NF2</i> gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function', 'display_name': 'Missense mutations in the <i>NF2</i> gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function', 'publication_year': 2011, 'publication_date': '2011-03-07', 'ids': {'openalex': 'https://openalex.org/W2007255299', 'doi': 'https://doi.org/10.1073/pnas.1102198108', 'mag': '2007255299', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/21383154', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/3064390'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1073/pnas.1102198108', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S125754415', 'display_name': 'Proceedings of the National Academy of Sciences', 'issn_l': '0027-8424', 'issn': ['0027-8424', '1091-6490'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320052', 'host_organization_name': 'National Academy of Sciences', 'host_organization_lineage': ['https://openalex.org/P4310320052'], 'host_organization_lineage_names': ['National Academy of Sciences'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'https://europepmc.org/articles/pmc3064390?pdf=render', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5059419027', 'display_name': 'Chunzhang Yang', 'orcid': 'https://orcid.org/0000-0001-6433-0867'}, 'institutions': [{'id': 'https://openalex.org/I1299303238', 'display_name': 'National Institutes of Health', 'ror': 'https://ror.org/01cwqze88', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Chunzhang Yang', 'raw_affiliation_strings': ['Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md 20892, USA.'], 'affiliations': [{'raw_affiliation_string': 'Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md 20892, USA.', 'institution_ids': ['https://openalex.org/I1299303238']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5047966562', 'display_name': 'Ashok R. Asthagiri', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210110767', 'display_name': 'National Institute of Neurological Disorders and Stroke', 'ror': 'https://ror.org/01s5ya894', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238', 'https://openalex.org/I4210110767']}, {'id': 'https://openalex.org/I1299303238', 'display_name': 'National Institutes of Health', 'ror': 'https://ror.org/01cwqze88', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Ashok R. Asthagiri', 'raw_affiliation_strings': ['Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892'], 'affiliations': [{'raw_affiliation_string': 'Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892', 'institution_ids': ['https://openalex.org/I4210110767', 'https://openalex.org/I1299303238']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5106034417', 'display_name': 'Rajiv R. Iyer', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210110767', 'display_name': 'National Institute of Neurological Disorders and Stroke', 'ror': 'https://ror.org/01s5ya894', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238', 'https://openalex.org/I4210110767']}, {'id': 'https://openalex.org/I1299303238', 'display_name': 'National Institutes of Health', 'ror': 'https://ror.org/01cwqze88', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Rajiv R. Iyer', 'raw_affiliation_strings': ['Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892'], 'affiliations': [{'raw_affiliation_string': 'Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892', 'institution_ids': ['https://openalex.org/I4210110767', 'https://openalex.org/I1299303238']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100769590', 'display_name': 'Jie Lu', 'orcid': 'https://orcid.org/0000-0002-1814-2125'}, 'institutions': [{'id': 'https://openalex.org/I4210110767', 'display_name': 'National Institute of Neurological Disorders and Stroke', 'ror': 'https://ror.org/01s5ya894', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238', 'https://openalex.org/I4210110767']}, {'id': 'https://openalex.org/I1299303238', 'display_name': 'National Institutes of Health', 'ror': 'https://ror.org/01cwqze88', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Jie Lu', 'raw_affiliation_strings': ['Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892'], 'affiliations': [{'raw_affiliation_string': 'Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892', 'institution_ids': ['https://openalex.org/I4210110767', 'https://openalex.org/I1299303238']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5005858236', 'display_name': 'David S. Xu', 'orcid': 'https://orcid.org/0000-0001-8987-4545'}, 'institutions': [{'id': 'https://openalex.org/I4210110767', 'display_name': 'National Institute of Neurological Disorders and Stroke', 'ror': 'https://ror.org/01s5ya894', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238', 'https://openalex.org/I4210110767']}, {'id': 'https://openalex.org/I1299303238', 'display_name': 'National Institutes of Health', 'ror': 'https://ror.org/01cwqze88', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'David S. Xu', 'raw_affiliation_strings': ['Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892'], 'affiliations': [{'raw_affiliation_string': 'Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892', 'institution_ids': ['https://openalex.org/I4210110767', 'https://openalex.org/I1299303238']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5047486082', 'display_name': 'Alexander Ksendzovsky', 'orcid': 'https://orcid.org/0000-0003-4547-8959'}, 'institutions': [{'id': 'https://openalex.org/I1299303238', 'display_name': 'National Institutes of Health', 'ror': 'https://ror.org/01cwqze88', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238']}, {'id': 'https://openalex.org/I4210110767', 'display_name': 'National Institute of Neurological Disorders and Stroke', 'ror': 'https://ror.org/01s5ya894', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238', 'https://openalex.org/I4210110767']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Alexander Ksendzovsky', 'raw_affiliation_strings': ['Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892'], 'affiliations': [{'raw_affiliation_string': 'Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892', 'institution_ids': ['https://openalex.org/I1299303238', 'https://openalex.org/I4210110767']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5114000147', 'display_name': 'Roscoe O. Brady', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1299303238', 'display_name': 'National Institutes of Health', 'ror': 'https://ror.org/01cwqze88', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238']}, {'id': 'https://openalex.org/I4210110767', 'display_name': 'National Institute of Neurological Disorders and Stroke', 'ror': 'https://ror.org/01s5ya894', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238', 'https://openalex.org/I4210110767']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Roscoe O. Brady', 'raw_affiliation_strings': ['Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892'], 'affiliations': [{'raw_affiliation_string': 'Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892', 'institution_ids': ['https://openalex.org/I1299303238', 'https://openalex.org/I4210110767']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5042897178', 'display_name': 'Zhengping Zhuang', 'orcid': 'https://orcid.org/0000-0002-0009-7370'}, 'institutions': [{'id': 'https://openalex.org/I4210110767', 'display_name': 'National Institute of Neurological Disorders and Stroke', 'ror': 'https://ror.org/01s5ya894', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238', 'https://openalex.org/I4210110767']}, {'id': 'https://openalex.org/I1299303238', 'display_name': 'National Institutes of Health', 'ror': 'https://ror.org/01cwqze88', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Zhengping Zhuang', 'raw_affiliation_strings': ['Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892'], 'affiliations': [{'raw_affiliation_string': 'Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892', 'institution_ids': ['https://openalex.org/I4210110767', 'https://openalex.org/I1299303238']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5043842805', 'display_name': 'Russell R. Lonser', 'orcid': 'https://orcid.org/0000-0002-8007-707X'}, 'institutions': [{'id': 'https://openalex.org/I4210110767', 'display_name': 'National Institute of Neurological Disorders and Stroke', 'ror': 'https://ror.org/01s5ya894', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238', 'https://openalex.org/I4210110767']}, {'id': 'https://openalex.org/I1299303238', 'display_name': 'National Institutes of Health', 'ror': 'https://ror.org/01cwqze88', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Russell R. Lonser', 'raw_affiliation_strings': ['Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892'], 'affiliations': [{'raw_affiliation_string': 'Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892', 'institution_ids': ['https://openalex.org/I4210110767', 'https://openalex.org/I1299303238']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 3.764, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 50, 'citation_normalized_percentile': {'value': 0.999895, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 95, 'max': 96}, 'biblio': {'volume': '108', 'issue': '12', 'first_page': '4980', 'last_page': '4985'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11173', 'display_name': 'Neurofibromatosis and Schwannoma Cases', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2728', 'display_name': 'Neurology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T11173', 'display_name': 'Neurofibromatosis and Schwannoma Cases', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2728', 'display_name': 'Neurology'}, '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/T12226', 'display_name': 'Neuroblastoma Research and Treatments', 'score': 0.9977, 'subfield': {'id': 'https://openalex.org/subfields/2728', 'display_name': 'Neurology'}, '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/T11251', 'display_name': 'Meningioma and schwannoma management', 'score': 0.9958, 'subfield': {'id': 'https://openalex.org/subfields/2713', 'display_name': 'Epidemiology'}, '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/merlin', 'display_name': 'Merlin (protein)', 'score': 0.87994254}, {'id': 'https://openalex.org/keywords/neurofibromatosis-type-2', 'display_name': 'Neurofibromatosis type 2', 'score': 0.5984057}, {'id': 'https://openalex.org/keywords/loss-function', 'display_name': 'Loss function', 'score': 0.533973}, {'id': 'https://openalex.org/keywords/mutant-protein', 'display_name': 'Mutant protein', 'score': 0.5066448}, {'id': 'https://openalex.org/keywords/gps2', 'display_name': 'GPS2', 'score': 0.42680424}], 'concepts': [{'id': 'https://openalex.org/C178628643', 'wikidata': 'https://www.wikidata.org/wiki/Q410233', 'display_name': 'Merlin (protein)', 'level': 4, 'score': 0.87994254}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.70075285}, {'id': 'https://openalex.org/C2778679214', 'wikidata': 'https://www.wikidata.org/wiki/Q1935832', 'display_name': 'Neurofibromatosis type 2', 'level': 3, 'score': 0.5984057}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.56798154}, {'id': 'https://openalex.org/C2778264664', 'wikidata': 'https://www.wikidata.org/wiki/Q422445', 'display_name': 'Tumor suppressor gene', 'level': 4, 'score': 0.5551564}, {'id': 'https://openalex.org/C105951970', 'wikidata': 'https://www.wikidata.org/wiki/Q1036748', 'display_name': 'Loss function', 'level': 4, 'score': 0.533973}, {'id': 'https://openalex.org/C555283112', 'wikidata': 'https://www.wikidata.org/wiki/Q1637543', 'display_name': 'Carcinogenesis', 'level': 3, 'score': 0.5210295}, {'id': 'https://openalex.org/C2779926675', 'wikidata': 'https://www.wikidata.org/wiki/Q6943700', 'display_name': 'Mutant protein', 'level': 4, 'score': 0.5066448}, {'id': 'https://openalex.org/C180196505', 'wikidata': 'https://www.wikidata.org/wiki/Q907420', 'display_name': 'Retinoblastoma-like protein 1', 'level': 3, 'score': 0.48296967}, {'id': 'https://openalex.org/C143065580', 'wikidata': 'https://www.wikidata.org/wiki/Q3285695', 'display_name': 'Mutant', 'level': 3, 'score': 0.45755306}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.4539381}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.44436038}, {'id': 'https://openalex.org/C207230331', 'wikidata': 'https://www.wikidata.org/wiki/Q18026450', 'display_name': 'GPS2', 'level': 5, 'score': 0.42680424}, {'id': 'https://openalex.org/C502942594', 'wikidata': 'https://www.wikidata.org/wiki/Q3421914', 'display_name': 'Cancer research', 'level': 1, 'score': 0.417396}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.41189334}, {'id': 'https://openalex.org/C95444343', 'wikidata': 'https://www.wikidata.org/wiki/Q7141', 'display_name': 'Cell biology', 'level': 1, 'score': 0.3359612}, {'id': 'https://openalex.org/C153911025', 'wikidata': 'https://www.wikidata.org/wiki/Q7202', 'display_name': 'Molecular biology', 'level': 1, 'score': 0.32494938}, {'id': 'https://openalex.org/C179185449', 'wikidata': 'https://www.wikidata.org/wiki/Q219699', 'display_name': 'Suppressor', 'level': 3, 'score': 0.23826277}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.19440198}, {'id': 'https://openalex.org/C2778984943', 'wikidata': 'https://www.wikidata.org/wiki/Q847605', 'display_name': 'Neurofibromatosis', 'level': 2, 'score': 0.15788645}, {'id': 'https://openalex.org/C116010114', 'wikidata': 'https://www.wikidata.org/wiki/Q18027345', 'display_name': 'HSPA2', 'level': 4, 'score': 0.13328075}, {'id': 'https://openalex.org/C167625842', 'wikidata': 'https://www.wikidata.org/wiki/Q899763', 'display_name': 'Peptide sequence', 'level': 3, 'score': 0.06767708}], 'mesh': [{'descriptor_ui': 'D016543', 'descriptor_name': 'Central Nervous System Neoplasms', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': True}, {'descriptor_ui': 'D015972', 'descriptor_name': 'Gene Expression Regulation, Neoplastic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D016515', 'descriptor_name': 'Genes, Neurofibromatosis 2', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D016518', 'descriptor_name': 'Neurofibromatosis 2', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': True}, {'descriptor_ui': 'D025581', 'descriptor_name': 'Neurofibromin 2', 'qualifier_ui': 'Q000096', 'qualifier_name': 'biosynthesis', 'is_major_topic': True}, {'descriptor_ui': 'D045744', 'descriptor_name': 'Cell Line, Tumor', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016543', 'descriptor_name': 'Central Nervous System Neoplasms', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016543', 'descriptor_name': 'Central Nervous System Neoplasms', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D020868', 'descriptor_name': 'Gene Silencing', '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': 'D016518', 'descriptor_name': 'Neurofibromatosis 2', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016518', 'descriptor_name': 'Neurofibromatosis 2', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D025581', 'descriptor_name': 'Neurofibromin 2', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D025581', 'descriptor_name': 'Neurofibromin 2', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D020133', 'descriptor_name': 'Reverse Transcriptase Polymerase Chain Reaction', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1073/pnas.1102198108', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S125754415', 'display_name': 'Proceedings of the National Academy of Sciences', 'issn_l': '0027-8424', 'issn': ['0027-8424', '1091-6490'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320052', 'host_organization_name': 'National Academy of Sciences', 'host_organization_lineage': ['https://openalex.org/P4310320052'], 'host_organization_lineage_names': ['National Academy of Sciences'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc3064390', 'pdf_url': 'https://europepmc.org/articles/pmc3064390?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064390', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, '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': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/21383154', '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': {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc3064390', 'pdf_url': 'https://europepmc.org/articles/pmc3064390?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'score': 0.62, 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 25, 'referenced_works': ['https://openalex.org/W1835750525', 'https://openalex.org/W1978247043', 'https://openalex.org/W1980538904', 'https://openalex.org/W1995965267', 'https://openalex.org/W1996460413', 'https://openalex.org/W2018113876', 'https://openalex.org/W2023011946', 'https://openalex.org/W2023765335', 'https://openalex.org/W2034853531', 'https://openalex.org/W2041106214', 'https://openalex.org/W2061329487', 'https://openalex.org/W2062643336', 'https://openalex.org/W2077858999', 'https://openalex.org/W2081998970', 'https://openalex.org/W2089867969', 'https://openalex.org/W2094136319', 'https://openalex.org/W2110125737', 'https://openalex.org/W2117139716', 'https://openalex.org/W2118171561', 'https://openalex.org/W2122218045', 'https://openalex.org/W2128021675', 'https://openalex.org/W2158950529', 'https://openalex.org/W2161807488', 'https://openalex.org/W2169831961', 'https://openalex.org/W2415494887'], 'related_works': ['https://openalex.org/W3120433969', 'https://openalex.org/W2791615783', 'https://openalex.org/W2403044102', 'https://openalex.org/W2399985334', 'https://openalex.org/W2397199371', 'https://openalex.org/W2395530723', 'https://openalex.org/W2108745864', 'https://openalex.org/W2037389577', 'https://openalex.org/W1977951634', 'https://openalex.org/W1495670687'], 'abstract_inverted_index': {'Neurofibromatosis': [0], 'type': [1], '2': [2], '(NF2)': [3], 'is': [4, 10, 76, 147, 171, 187], 'a': [5, 13, 49, 150, 223], 'multiple': [6], 'neoplasia': [7], 'syndrome': [8], 'and': [9, 46, 96, 101, 106, 156, 217, 221], 'caused': [11], 'by': [12], 'mutation': [14], 'of': [15, 37, 52, 60, 67, 72, 86, 127, 130, 145, 166, 184, 204], 'the': [16, 24, 35, 57, 61, 70, 82, 201], 'NF2': [17, 30, 62, 132, 136, 220], 'tumor': [18, 25, 167, 206], 'suppressor': [19, 26, 168, 207], 'gene': [20, 31, 63], 'that': [21, 110, 142, 164, 174], 'encodes': [22], 'for': [23, 227], 'protein': [27, 105, 113, 154, 158, 169, 186, 196, 215], 'merlin.': [28], 'Biallelic': [29], 'inactivation': [32], 'results': [33], 'in': [34, 56, 89, 98, 118, 152, 200, 219], 'development': [36], 'central': [38], 'nervous': [39], 'system': [40], 'tumors,': [41, 120], 'including': [42], 'schwannomas,': [43], 'meningiomas,': [44], 'ependymomas,': [45], 'astrocytomas.': [47], 'Although': [48], 'wide': [50], 'variety': [51], 'missense': [53, 133], 'germline': [54], 'mutations': [55, 134], 'coding': [58], 'sequences': [59], 'can': [64], 'cause': [65], 'loss': [66, 75, 85, 144], 'merlin': [68, 87, 94, 112, 143], 'function,': [69], 'mechanism': [71], 'this': [73, 228], 'functional': [74, 179], 'unknown.': [77], 'To': [78], 'gain': [79], 'insight': [80, 213], 'into': [81, 135, 214], 'mechanisms': [83], 'underlying': [84], 'function': [88, 97, 146, 170, 216], 'NF2,': [90], 'we': [91], 'investigated': [92], 'mutated': [93], 'homeostasis': [95], 'NF2-associated': [99, 119], 'tumors': [100], 'cell': [102, 139], 'lines.': [103], 'Quantitative': [104], 'RT-PCR': [107], 'analysis': [108, 161], 'revealed': [109, 141], 'whereas': [111], 'expression': [114, 122, 183], 'was': [115], 'significantly': [116], 'reduced': [117], 'mRNA': [121], 'levels': [123], 'were': [124], 'unchanged.': [125], 'Transfection': [126, 160], 'genetic': [128], 'constructs': [129], 'common': [131], 'gene-deficient': [137], 'meningioma': [138], 'lines': [140], 'due': [148], 'to': [149], 'reduction': [151], 'mutant': [153, 185, 205], 'half-life': [155], 'increased': [157, 182], 'degradation.': [159], 'also': [162], 'demonstrated': [163], 'recovery': [165], 'possible,': [172], 'indicating': [173], 'these': [175], 'mutants': [176], 'maintain': [177], 'intrinsic': [178], 'capacity.': [180], 'Further,': [181], 'possible': [188], 'after': [189], 'treatment': [190, 225], 'with': [191], 'specific': [192], 'proteostasis': [193], 'regulators,': [194], 'implicating': [195], 'quality': [197], 'control': [198], 'systems': [199], 'degradative': [202], 'fate': [203], 'proteins.': [208], 'These': [209], 'findings': [210], 'provide': [211], 'direct': [212], 'tumorigenesis': [218], 'indicate': [222], 'unique': [224], 'paradigm': [226], 'disorder.': [229]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2007255299', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2023, 'cited_by_count': 2}, {'year': 2022, 'cited_by_count': 2}, {'year': 2021, 'cited_by_count': 5}, {'year': 2020, 'cited_by_count': 5}, {'year': 2019, 'cited_by_count': 4}, {'year': 2018, 'cited_by_count': 3}, {'year': 2017, 'cited_by_count': 2}, {'year': 2016, 'cited_by_count': 3}, {'year': 2015, 'cited_by_count': 4}, {'year': 2014, 'cited_by_count': 4}, {'year': 2013, 'cited_by_count': 8}, {'year': 2012, 'cited_by_count': 5}], 'updated_date': '2024-12-14T02:06:27.732390', 'created_date': '2016-06-24'}