Publication Information

{'id': 'https://openalex.org/W2092341724', 'doi': 'https://doi.org/10.1038/ng0193-7', 'title': 'Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase', 'display_name': 'Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase', 'publication_year': 1993, 'publication_date': '1993-01-01', 'ids': {'openalex': 'https://openalex.org/W2092341724', 'doi': 'https://doi.org/10.1038/ng0193-7', 'mag': '2092341724', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/8490659'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1038/ng0193-7', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S137905309', 'display_name': 'Nature Genetics', 'issn_l': '1061-4036', 'issn': ['1061-4036', '1546-1718'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319908', 'host_organization_name': 'Nature Portfolio', 'host_organization_lineage': ['https://openalex.org/P4310319908', 'https://openalex.org/P4310319965'], 'host_organization_lineage_names': ['Nature Portfolio', 'Springer Nature'], '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': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5064631905', 'display_name': 'Chris D. Vulpe', 'orcid': 'https://orcid.org/0000-0001-5134-8929'}, 'institutions': [{'id': 'https://openalex.org/I1344073410', 'display_name': 'Howard Hughes Medical Institute', 'ror': 'https://ror.org/006w34k90', 'country_code': 'US', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I1344073410']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Christopher Vulpe', 'raw_affiliation_strings': ['Department of Biochemistry, Howard Hughes Medical Institute, San Francisco, California.'], 'affiliations': [{'raw_affiliation_string': 'Department of Biochemistry, Howard Hughes Medical Institute, San Francisco, California.', 'institution_ids': ['https://openalex.org/I1344073410']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5040321242', 'display_name': 'Barbara Levinson', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1344073410', 'display_name': 'Howard Hughes Medical Institute', 'ror': 'https://ror.org/006w34k90', 'country_code': 'US', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I1344073410']}, {'id': 'https://openalex.org/I180670191', 'display_name': 'University of California, San Francisco', 'ror': 'https://ror.org/043mz5j54', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I180670191']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Barbara Levinson', 'raw_affiliation_strings': ['Department of Medicine, Howard Hughes Medical Institute,', 'the Division of Genetics, University of California, San Francisco, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Medicine, Howard Hughes Medical Institute,', 'institution_ids': ['https://openalex.org/I1344073410']}, {'raw_affiliation_string': 'the Division of Genetics, University of California, San Francisco, USA', 'institution_ids': ['https://openalex.org/I180670191']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5109199690', 'display_name': 'Susan Whitney', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I180670191', 'display_name': 'University of California, San Francisco', 'ror': 'https://ror.org/043mz5j54', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I180670191']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Susan Whitney', 'raw_affiliation_strings': ['[Department of Pediatrics, University of California, San Francisco, USA]'], 'affiliations': [{'raw_affiliation_string': '[Department of Pediatrics, University of California, San Francisco, USA]', 'institution_ids': ['https://openalex.org/I180670191']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5022254784', 'display_name': 'Seymour Packman', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I180670191', 'display_name': 'University of California, San Francisco', 'ror': 'https://ror.org/043mz5j54', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I180670191']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Seymour Packman', 'raw_affiliation_strings': ['[Department of Pediatrics, University of California, San Francisco, USA]'], 'affiliations': [{'raw_affiliation_string': '[Department of Pediatrics, University of California, San Francisco, USA]', 'institution_ids': ['https://openalex.org/I180670191']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5112176142', 'display_name': 'Jane Gitschier', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1344073410', 'display_name': 'Howard Hughes Medical Institute', 'ror': 'https://ror.org/006w34k90', 'country_code': 'US', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I1344073410']}, {'id': 'https://openalex.org/I180670191', 'display_name': 'University of California, San Francisco', 'ror': 'https://ror.org/043mz5j54', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I180670191']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Jane Gitschier', 'raw_affiliation_strings': ['Department of Medicine, Howard Hughes Medical Institute,', 'the Division of Genetics, University of California, San Francisco, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Medicine, Howard Hughes Medical Institute,', 'institution_ids': ['https://openalex.org/I1344073410']}, {'raw_affiliation_string': 'the Division of Genetics, University of California, San Francisco, USA', 'institution_ids': ['https://openalex.org/I180670191']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 9750, 'currency': 'EUR', 'value_usd': 11690, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 63.623, 'has_fulltext': False, 'cited_by_count': 1394, 'citation_normalized_percentile': {'value': 0.999724, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 99, 'max': 100}, 'biblio': {'volume': '3', 'issue': '1', 'first_page': '7', 'last_page': '13'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10915', 'display_name': 'Trace Elements in Health', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/2916', 'display_name': 'Nutrition and Dietetics'}, 'field': {'id': 'https://openalex.org/fields/29', 'display_name': 'Nursing'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10915', 'display_name': 'Trace Elements in Health', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/2916', 'display_name': 'Nutrition and Dietetics'}, 'field': {'id': 'https://openalex.org/fields/29', 'display_name': 'Nursing'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T12610', 'display_name': 'RNA regulation and disease', 'score': 0.9991, '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/T10521', 'display_name': 'RNA and protein synthesis mechanisms', 'score': 0.9975, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/menkes-disease', 'display_name': 'Menkes disease', 'score': 0.9783424}, {'id': 'https://openalex.org/keywords/atp7a', 'display_name': 'ATP7A', 'score': 0.72279996}, {'id': 'https://openalex.org/keywords/candidate-gene', 'display_name': 'Candidate gene', 'score': 0.531017}], 'concepts': [{'id': 'https://openalex.org/C2777581567', 'wikidata': 'https://www.wikidata.org/wiki/Q639203', 'display_name': 'Menkes disease', 'level': 4, 'score': 0.9783424}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.8853817}, {'id': 'https://openalex.org/C2779736553', 'wikidata': 'https://www.wikidata.org/wiki/Q14884608', 'display_name': 'ATP7A', 'level': 4, 'score': 0.72279996}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.5929741}, {'id': 'https://openalex.org/C544778455', 'wikidata': 'https://www.wikidata.org/wiki/Q753', 'display_name': 'Copper', 'level': 2, 'score': 0.5340506}, {'id': 'https://openalex.org/C69991583', 'wikidata': 'https://www.wikidata.org/wiki/Q1423575', 'display_name': 'Candidate gene', 'level': 3, 'score': 0.531017}, {'id': 'https://openalex.org/C23265538', 'wikidata': 'https://www.wikidata.org/wiki/Q300033', 'display_name': 'ATPase', 'level': 3, 'score': 0.50167775}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.48408973}, {'id': 'https://openalex.org/C2991729501', 'wikidata': 'https://www.wikidata.org/wiki/Q753', 'display_name': 'Copper metabolism', 'level': 3, 'score': 0.23992991}, {'id': 'https://openalex.org/C181199279', 'wikidata': 'https://www.wikidata.org/wiki/Q8047', 'display_name': 'Enzyme', 'level': 2, 'score': 0.15541855}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.13555983}, {'id': 'https://openalex.org/C149011108', 'wikidata': 'https://www.wikidata.org/wiki/Q652985', 'display_name': 'Transporter', 'level': 3, 'score': 0.04650405}, {'id': 'https://openalex.org/C185592680', 'wikidata': 'https://www.wikidata.org/wiki/Q2329', 'display_name': 'Chemistry', 'level': 0, 'score': 0.0}, {'id': 'https://openalex.org/C178790620', 'wikidata': 'https://www.wikidata.org/wiki/Q11351', 'display_name': 'Organic chemistry', 'level': 1, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D000251', 'descriptor_name': 'Adenosine Triphosphatases', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D002352', 'descriptor_name': 'Carrier Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D027682', 'descriptor_name': 'Cation Transport Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D003300', 'descriptor_name': 'Copper', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': True}, {'descriptor_ui': 'D007706', 'descriptor_name': 'Menkes Kinky Hair Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D011993', 'descriptor_name': 'Recombinant Fusion Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000251', 'descriptor_name': 'Adenosine Triphosphatases', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D000251', 'descriptor_name': 'Adenosine Triphosphatases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000595', 'descriptor_name': 'Amino Acid Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000818', 'descriptor_name': 'Animals', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001483', 'descriptor_name': 'Base Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001693', 'descriptor_name': 'Biological Transport, Active', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015139', 'descriptor_name': 'Blotting, Southern', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002352', 'descriptor_name': 'Carrier Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002478', 'descriptor_name': 'Cells, Cultured', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002874', 'descriptor_name': 'Chromosome Mapping', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003001', 'descriptor_name': 'Cloning, Molecular', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003300', 'descriptor_name': 'Copper', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000073840', 'descriptor_name': 'Copper-Transporting ATPases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': 'Q000302', 'qualifier_name': 'isolation & purification', 'is_major_topic': False}, {'descriptor_ui': 'D015870', 'descriptor_name': 'Gene Expression', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015321', 'descriptor_name': 'Gene Rearrangement', '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': 'D007706', 'descriptor_name': 'Menkes Kinky Hair Syndrome', 'qualifier_ui': 'Q000201', 'qualifier_name': 'enzymology', 'is_major_topic': False}, {'descriptor_ui': 'D007706', 'descriptor_name': 'Menkes Kinky Hair Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008969', 'descriptor_name': 'Molecular Sequence Data', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009928', 'descriptor_name': 'Organ Specificity', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009928', 'descriptor_name': 'Organ Specificity', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D014178', 'descriptor_name': 'Translocation, Genetic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014960', 'descriptor_name': 'X Chromosome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1038/ng0193-7', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S137905309', 'display_name': 'Nature Genetics', 'issn_l': '1061-4036', 'issn': ['1061-4036', '1546-1718'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319908', 'host_organization_name': 'Nature Portfolio', 'host_organization_lineage': ['https://openalex.org/P4310319908', 'https://openalex.org/P4310319965'], 'host_organization_lineage_names': ['Nature Portfolio', 'Springer Nature'], '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/8490659', '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': [{'display_name': 'Good health and well-being', 'id': 'https://metadata.un.org/sdg/3', 'score': 0.6}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 53, 'referenced_works': ['https://openalex.org/W110595166', 'https://openalex.org/W117293620', 'https://openalex.org/W1273084684', 'https://openalex.org/W1481361731', 'https://openalex.org/W1510487353', 'https://openalex.org/W1519782775', 'https://openalex.org/W1604585967', 'https://openalex.org/W1625767764', 'https://openalex.org/W1648903155', 'https://openalex.org/W1758474065', 'https://openalex.org/W1834949269', 'https://openalex.org/W1921008096', 'https://openalex.org/W1975304761', 'https://openalex.org/W1976145314', 'https://openalex.org/W1977182107', 'https://openalex.org/W1978438797', 'https://openalex.org/W1984059232', 'https://openalex.org/W1985849437', 'https://openalex.org/W1988291930', 'https://openalex.org/W1993651887', 'https://openalex.org/W2009310436', 'https://openalex.org/W2012675312', 'https://openalex.org/W2015284364', 'https://openalex.org/W2019584574', 'https://openalex.org/W2020674222', 'https://openalex.org/W2026197569', 'https://openalex.org/W2031026497', 'https://openalex.org/W2032458072', 'https://openalex.org/W2035891083', 'https://openalex.org/W20362164', 'https://openalex.org/W2039427220', 'https://openalex.org/W2041985900', 'https://openalex.org/W2055371183', 'https://openalex.org/W2059073687', 'https://openalex.org/W2059671218', 'https://openalex.org/W2060672012', 'https://openalex.org/W2067724618', 'https://openalex.org/W2068751490', 'https://openalex.org/W2072180899', 'https://openalex.org/W2080547247', 'https://openalex.org/W2082924210', 'https://openalex.org/W2084521089', 'https://openalex.org/W2092197701', 'https://openalex.org/W2104859115', 'https://openalex.org/W2111891686', 'https://openalex.org/W2115938689', 'https://openalex.org/W2133579524', 'https://openalex.org/W2153277457', 'https://openalex.org/W2170023388', 'https://openalex.org/W303829026', 'https://openalex.org/W305062985', 'https://openalex.org/W3145894777', 'https://openalex.org/W314960756'], 'related_works': ['https://openalex.org/W4250774480', 'https://openalex.org/W3208890072', 'https://openalex.org/W311558312', 'https://openalex.org/W2118480909', 'https://openalex.org/W2109085355', 'https://openalex.org/W2087539450', 'https://openalex.org/W2062218267', 'https://openalex.org/W1939052875', 'https://openalex.org/W1519459752', 'https://openalex.org/W1515865961'], 'abstract_inverted_index': None, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2092341724', 'counts_by_year': [{'year': 2024, 'cited_by_count': 26}, {'year': 2023, 'cited_by_count': 30}, {'year': 2022, 'cited_by_count': 20}, {'year': 2021, 'cited_by_count': 37}, {'year': 2020, 'cited_by_count': 34}, {'year': 2019, 'cited_by_count': 27}, {'year': 2018, 'cited_by_count': 51}, {'year': 2017, 'cited_by_count': 47}, {'year': 2016, 'cited_by_count': 50}, {'year': 2015, 'cited_by_count': 41}, {'year': 2014, 'cited_by_count': 59}, {'year': 2013, 'cited_by_count': 45}, {'year': 2012, 'cited_by_count': 49}], 'updated_date': '2024-12-20T19:10:39.334173', 'created_date': '2016-06-24'}