Publication Information

{'id': 'https://openalex.org/W2128924278', 'doi': 'https://doi.org/10.1359/jbmr.1998.13.12.1827', 'title': 'Expression of the Mutant (1735T-DEL) Tissue-Nonspecific Alkaline Phosphatase Gene from Hypophosphatasia Patients', 'display_name': 'Expression of the Mutant (1735T-DEL) Tissue-Nonspecific Alkaline Phosphatase Gene from Hypophosphatasia Patients', 'publication_year': 1998, 'publication_date': '1998-12-01', 'ids': {'openalex': 'https://openalex.org/W2128924278', 'doi': 'https://doi.org/10.1359/jbmr.1998.13.12.1827', 'mag': '2128924278', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/9844100'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1359/jbmr.1998.13.12.1827', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.1998.13.12.1827', 'source': {'id': 'https://openalex.org/S128199769', 'display_name': 'Journal of Bone and Mineral Research', 'issn_l': '0884-0431', 'issn': ['0884-0431', '1523-4681'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310311648', 'host_organization_name': 'Oxford University Press', 'host_organization_lineage': ['https://openalex.org/P4310311647', 'https://openalex.org/P4310311648'], 'host_organization_lineage_names': ['University of Oxford', 'Oxford University Press'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'bronze', 'oa_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.1998.13.12.1827', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5057531302', 'display_name': 'Masae Goseki‐Sone', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I29457043', 'display_name': "Japan Women's University", 'ror': 'https://ror.org/04gpcyk21', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I29457043']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Masae Dr. Goseki-Sone', 'raw_affiliation_strings': ["Department of Food and Nutrition, Japan Women's University, Tokyo, Japan"], 'affiliations': [{'raw_affiliation_string': "Department of Food and Nutrition, Japan Women's University, Tokyo, Japan", 'institution_ids': ['https://openalex.org/I29457043']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5025696454', 'display_name': 'Hideo Orimo', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I80188885', 'display_name': 'Nippon Medical School', 'ror': 'https://ror.org/00krab219', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I80188885']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Hideo Orimo', 'raw_affiliation_strings': [' Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': ' Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I80188885']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5077363607', 'display_name': 'Tadahiro Iimura', 'orcid': 'https://orcid.org/0000-0002-1431-0689'}, 'institutions': [{'id': 'https://openalex.org/I125602781', 'display_name': 'Tokyo Medical and Dental University', 'ror': 'https://ror.org/051k3eh31', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I125602781']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Tadahiro Iimura', 'raw_affiliation_strings': ['Department of Developmental Biology, Graduate School of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Developmental Biology, Graduate School of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I125602781']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5048064762', 'display_name': 'Hidetaka Miyazaki', 'orcid': 'https://orcid.org/0009-0006-7062-817X'}, 'institutions': [{'id': 'https://openalex.org/I125602781', 'display_name': 'Tokyo Medical and Dental University', 'ror': 'https://ror.org/051k3eh31', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I125602781']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Hidetaka Miyazaki', 'raw_affiliation_strings': ['First Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'First Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I125602781']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103414048', 'display_name': 'Kimimitsu Oda', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I71395657', 'display_name': 'Niigata University', 'ror': 'https://ror.org/04ww21r56', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I71395657']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Kimimitsu Oda', 'raw_affiliation_strings': ['Department of Oral Biochemistry, Faculty of Dentistry, Niigata University, Niigata, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Oral Biochemistry, Faculty of Dentistry, Niigata University, Niigata, Japan', 'institution_ids': ['https://openalex.org/I71395657']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5076241642', 'display_name': 'Hisanobu Shibata', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I71395657', 'display_name': 'Niigata University', 'ror': 'https://ror.org/04ww21r56', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I71395657']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Hisanobu Shibata', 'raw_affiliation_strings': ['Department of Oral Biochemistry, Faculty of Dentistry, Niigata University, Niigata, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Oral Biochemistry, Faculty of Dentistry, Niigata University, Niigata, Japan', 'institution_ids': ['https://openalex.org/I71395657']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5056877170', 'display_name': 'Masaki Yanagishita', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I125602781', 'display_name': 'Tokyo Medical and Dental University', 'ror': 'https://ror.org/051k3eh31', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I125602781']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Masaki Yanagishita', 'raw_affiliation_strings': ['Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I125602781']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5102734965', 'display_name': 'Yuzo Takagi', 'orcid': 'https://orcid.org/0000-0001-8026-1857'}, 'institutions': [{'id': 'https://openalex.org/I125602781', 'display_name': 'Tokyo Medical and Dental University', 'ror': 'https://ror.org/051k3eh31', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I125602781']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Yuzo Takagi', 'raw_affiliation_strings': ['Department of Pedodontics, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan.'], 'affiliations': [{'raw_affiliation_string': 'Department of Pedodontics, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan.', 'institution_ids': ['https://openalex.org/I125602781']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5108387549', 'display_name': 'Hisashi Watanabe', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I125602781', 'display_name': 'Tokyo Medical and Dental University', 'ror': 'https://ror.org/051k3eh31', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I125602781']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Hisashi Watanabe', 'raw_affiliation_strings': ['Department of Periodontology, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Periodontology, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I125602781']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101557061', 'display_name': 'Takashi Shimada', 'orcid': 'https://orcid.org/0000-0001-7182-7003'}, 'institutions': [{'id': 'https://openalex.org/I80188885', 'display_name': 'Nippon Medical School', 'ror': 'https://ror.org/00krab219', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I80188885']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Takashi Shimada', 'raw_affiliation_strings': [' Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': ' Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I80188885']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5035109728', 'display_name': 'Shinichiro Oida', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I125602781', 'display_name': 'Tokyo Medical and Dental University', 'ror': 'https://ror.org/051k3eh31', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I125602781']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Shinichiro Oida', 'raw_affiliation_strings': ['Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I125602781']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 4, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 3710, 'currency': 'USD', 'value_usd': 3710, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.83, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 44, 'citation_normalized_percentile': {'value': 0.930163, 'is_in_top_1_percent': False, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 91, 'max': 92}, 'biblio': {'volume': '13', 'issue': '12', 'first_page': '1827', 'last_page': '1834'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T13453', 'display_name': 'Alkaline Phosphatase Research Studies', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2712', 'display_name': 'Endocrinology, Diabetes and Metabolism'}, '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/T13453', 'display_name': 'Alkaline Phosphatase Research Studies', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2712', 'display_name': 'Endocrinology, Diabetes and Metabolism'}, '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/T12960', 'display_name': 'Heterotopic Ossification and Related Conditions', 'score': 0.9923, 'subfield': {'id': 'https://openalex.org/subfields/2745', 'display_name': 'Rheumatology'}, '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/T11107', 'display_name': 'Selenium in Biological Systems', 'score': 0.9861, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/hypophosphatasia', 'display_name': 'Hypophosphatasia', 'score': 0.9859983}, {'id': 'https://openalex.org/keywords/phosphoric-monoester-hydrolases', 'display_name': 'Phosphoric monoester hydrolases', 'score': 0.46467242}], 'concepts': [{'id': 'https://openalex.org/C2778471162', 'wikidata': 'https://www.wikidata.org/wiki/Q1313510', 'display_name': 'Hypophosphatasia', 'level': 4, 'score': 0.9859983}, {'id': 'https://openalex.org/C160160445', 'wikidata': 'https://www.wikidata.org/wiki/Q24769688', 'display_name': 'Alkaline phosphatase', 'level': 3, 'score': 0.8172071}, {'id': 'https://openalex.org/C143065580', 'wikidata': 'https://www.wikidata.org/wiki/Q3285695', 'display_name': 'Mutant', 'level': 3, 'score': 0.6682862}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.51663285}, {'id': 'https://openalex.org/C2776321633', 'wikidata': 'https://www.wikidata.org/wiki/Q7187557', 'display_name': 'Phosphoric monoester hydrolases', 'level': 4, 'score': 0.46467242}, {'id': 'https://openalex.org/C153911025', 'wikidata': 'https://www.wikidata.org/wiki/Q7202', 'display_name': 'Molecular biology', 'level': 1, 'score': 0.39555457}, {'id': 'https://openalex.org/C178666793', 'wikidata': 'https://www.wikidata.org/wiki/Q422476', 'display_name': 'Phosphatase', 'level': 3, 'score': 0.3918047}, {'id': 'https://openalex.org/C185592680', 'wikidata': 'https://www.wikidata.org/wiki/Q2329', 'display_name': 'Chemistry', 'level': 0, 'score': 0.3747192}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.34088212}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.33183932}, {'id': 'https://openalex.org/C181199279', 'wikidata': 'https://www.wikidata.org/wiki/Q8047', 'display_name': 'Enzyme', 'level': 2, 'score': 0.28094053}], 'mesh': [{'descriptor_ui': 'D000469', 'descriptor_name': 'Alkaline Phosphatase', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D016368', 'descriptor_name': 'Frameshift Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D007014', 'descriptor_name': 'Hypophosphatasia', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000469', 'descriptor_name': 'Alkaline Phosphatase', 'qualifier_ui': 'Q000276', 'qualifier_name': 'immunology', 'is_major_topic': False}, {'descriptor_ui': 'D000469', 'descriptor_name': 'Alkaline Phosphatase', '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': 'D019556', 'descriptor_name': 'COS Cells', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002675', 'descriptor_name': 'Child, Preschool', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003062', 'descriptor_name': 'Codon', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004591', 'descriptor_name': 'Electrophoresis, Polyacrylamide Gel', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019085', 'descriptor_name': 'Fluorescent Antibody Technique, Direct', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015870', 'descriptor_name': 'Gene Expression', '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': 'D007014', 'descriptor_name': 'Hypophosphatasia', 'qualifier_ui': 'Q000201', 'qualifier_name': 'enzymology', 'is_major_topic': False}, {'descriptor_ui': 'D007014', 'descriptor_name': 'Hypophosphatasia', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007223', 'descriptor_name': 'Infant', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', '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': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014176', 'descriptor_name': 'Protein Biosynthesis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017384', 'descriptor_name': 'Sequence Deletion', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014162', 'descriptor_name': 'Transfection', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1359/jbmr.1998.13.12.1827', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.1998.13.12.1827', 'source': {'id': 'https://openalex.org/S128199769', 'display_name': 'Journal of Bone and Mineral Research', 'issn_l': '0884-0431', 'issn': ['0884-0431', '1523-4681'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310311648', 'host_organization_name': 'Oxford University Press', 'host_organization_lineage': ['https://openalex.org/P4310311647', 'https://openalex.org/P4310311648'], 'host_organization_lineage_names': ['University of Oxford', 'Oxford University Press'], 'type': 'journal'}, '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/9844100', '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://doi.org/10.1359/jbmr.1998.13.12.1827', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.1998.13.12.1827', 'source': {'id': 'https://openalex.org/S128199769', 'display_name': 'Journal of Bone and Mineral Research', 'issn_l': '0884-0431', 'issn': ['0884-0431', '1523-4681'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310311648', 'host_organization_name': 'Oxford University Press', 'host_organization_lineage': ['https://openalex.org/P4310311647', 'https://openalex.org/P4310311648'], 'host_organization_lineage_names': ['University of Oxford', 'Oxford University Press'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'display_name': 'Clean water and sanitation', 'score': 0.49, 'id': 'https://metadata.un.org/sdg/6'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 26, 'referenced_works': ['https://openalex.org/W1502127219', 'https://openalex.org/W1582494798', 'https://openalex.org/W1625660792', 'https://openalex.org/W1675673684', 'https://openalex.org/W1689494938', 'https://openalex.org/W1973772928', 'https://openalex.org/W1983707750', 'https://openalex.org/W1990938821', 'https://openalex.org/W2003608853', 'https://openalex.org/W2008544782', 'https://openalex.org/W2009967791', 'https://openalex.org/W2017687105', 'https://openalex.org/W2023331400', 'https://openalex.org/W2031045991', 'https://openalex.org/W2046585098', 'https://openalex.org/W2056103605', 'https://openalex.org/W2064476671', 'https://openalex.org/W2068341540', 'https://openalex.org/W2071387925', 'https://openalex.org/W2082065853', 'https://openalex.org/W2082446278', 'https://openalex.org/W2083367404', 'https://openalex.org/W2087384207', 'https://openalex.org/W2141103280', 'https://openalex.org/W2318843727', 'https://openalex.org/W4246570041'], 'related_works': ['https://openalex.org/W831144268', 'https://openalex.org/W4385619488', 'https://openalex.org/W2400923626', 'https://openalex.org/W2342037809', 'https://openalex.org/W2047584834', 'https://openalex.org/W2016752237', 'https://openalex.org/W2006875178', 'https://openalex.org/W1996058105', 'https://openalex.org/W1758543008', 'https://openalex.org/W1564216762'], 'abstract_inverted_index': {'Abstract': [0], 'Hypophosphatasia': [1], '(HOPS)': [2], 'is': [3, 90, 109, 181], 'an': [4, 150, 161, 196, 209], 'inherited': [5], 'disorder': [6], 'characterized': [7], 'by': [8, 173, 183], 'defects': [9], 'in': [10, 26, 43, 49, 68, 102, 166, 190], 'skeletal': [11], 'mineralization': [12], 'due': [13], 'to': [14, 57, 111, 168], 'the': [15, 27, 61, 65, 84, 103, 106, 119, 128, 132, 169, 178, 205], 'deficiency': [16], 'of': [17, 36, 60, 118, 153, 188], 'tissue-nonspecific': [18], 'alkaline': [19], 'phosphatase': [20], '(TNSALP).': [21], 'To': [22], 'date,': [23], 'various': [24], 'mutations': [25, 67], 'TNSALP': [28, 121, 159, 171, 180, 189], 'gene': [29, 122], 'have': [30, 112], 'been': [31, 47], 'identified.': [32], 'Especially,': [33], 'a': [34, 74, 93, 201], 'deletion': [35], 'T': [37], 'at': [38, 88, 99], 'position': [39], '1735': [40], '(1735T-del)': [41], 'located': [42], 'exon': [44], '12': [45], 'has': [46], 'detected': [48], 'three': [50], 'genetically': [51], 'unrelated': [52], 'Japanese': [53, 69], 'patients,': [54], 'which': [55, 164], 'seems': [56], 'be': [58], 'one': [59], 'hot': [62], 'spots': [63], 'among': [64], 'causative': [66], 'HOPS': [70, 184], 'patients.': [71, 185], '1735T-del': [72, 134, 194], 'causes': [73], 'frame': [75], 'shift': [76], 'downstream': [77], 'from': [78, 131], 'codon': [79, 87, 97, 100], '503': [80], '(Leu),': [81], 'and': [82, 139], 'consequently': [83], 'normal': [85], 'termination': [86, 96], '508': [89], 'eliminated.': [91], 'Since': [92], 'new': [94], 'inframe': [95], 'appears': [98], '588': [101], 'mutant': [104, 120, 133], 'DNA,': [105], 'resultant': [107], 'protein': [108, 129, 163], 'expected': [110], '80': [113], 'additional': [114], 'amino': [115], 'acids.': [116], 'Expression': [117], 'using': [123, 156, 195], 'COS-1': [124, 174], 'cells': [125, 191], 'demonstrated': [126], 'that': [127, 177], 'translated': [130], 'had': [135], 'undetectable': [136], 'ALP': [137], 'activity,': [138], 'its': [140], 'molecule': [141], 'size': [142, 167], 'was': [143], 'larger': [144], 'than': [145], 'normal,': [146], 'as': [147], 'expected.': [148], 'Interestingly,': [149], 'immunoprecipitation': [151], 'study': [152], "patients'": [154], 'sera': [155], 'antibody': [157], 'against': [158], 'revealed': [160], 'abnormal': [162, 179], 'corresponded': [165], 'mutated': [170], 'expressed': [172], 'cells,': [175], 'suggesting': [176], 'made': [182], 'The': [186], 'detection': [187], 'transfected': [192], 'with': [193], 'immunofluorescent': [197], 'method': [198], 'exhibited': [199], 'only': [200], 'faint': [202], 'signal': [203], 'on': [204], 'cell': [206], 'surface,': [207], 'but': [208], 'intense': [210], 'intracellular': [211], 'fluorescence': [212], 'after': [213], 'permeabilization.': [214]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2128924278', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 2}, {'year': 2021, 'cited_by_count': 1}, {'year': 2020, 'cited_by_count': 1}, {'year': 2019, 'cited_by_count': 2}, {'year': 2018, 'cited_by_count': 2}, {'year': 2017, 'cited_by_count': 2}, {'year': 2016, 'cited_by_count': 2}, {'year': 2015, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 1}], 'updated_date': '2024-12-21T11:57:13.964467', 'created_date': '2016-06-24'}