Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2158886910', 'doi': 'https://doi.org/10.1681/asn.v1291872', 'title': 'Novel Paracellin-1 Mutations in 25 Families with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis', 'display_name': 'Novel Paracellin-1 Mutations in 25 Families with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis', 'publication_year': 2001, 'publication_date': '2001-09-01', 'ids': {'openalex': 'https://openalex.org/W2158886910', 'doi': 'https://doi.org/10.1681/asn.v1291872', 'mag': '2158886910', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/11518780'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1681/asn.v1291872', 'pdf_url': 'https://jasn.asnjournals.org/content/jnephrol/12/9/1872.full.pdf', 'source': {'id': 'https://openalex.org/S115693375', 'display_name': 'Journal of the American Society of Nephrology', 'issn_l': '1046-6673', 'issn': ['1046-6673', '1533-3450'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315620', 'host_organization_name': 'American Society of Nephrology', 'host_organization_lineage': ['https://openalex.org/P4310315620'], 'host_organization_lineage_names': ['American Society of Nephrology'], '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://jasn.asnjournals.org/content/jnephrol/12/9/1872.full.pdf', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5101929042', 'display_name': 'Stefanie Weber', 'orcid': 'https://orcid.org/0000-0002-9498-2337'}, 'institutions': [{'id': 'https://openalex.org/I161103922', 'display_name': 'Philipps University of Marburg', 'ror': 'https://ror.org/01rdrb571', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I161103922']}], 'countries': ['DE'], 'is_corresponding': True, 'raw_author_name': 'STEFANIE WEBER', 'raw_affiliation_strings': ['Department of Pediatrics, Philipps University, Marburg, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Philipps University, Marburg, Germany', 'institution_ids': ['https://openalex.org/I161103922']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5027406256', 'display_name': 'Linda Schneider', 'orcid': 'https://orcid.org/0000-0002-9866-4723'}, 'institutions': [{'id': 'https://openalex.org/I161103922', 'display_name': 'Philipps University of Marburg', 'ror': 'https://ror.org/01rdrb571', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I161103922']}], 'countries': ['DE'], 'is_corresponding': True, 'raw_author_name': 'LINDA SCHNEIDER', 'raw_affiliation_strings': ['Department of Pediatrics, Philipps University, Marburg, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Philipps University, Marburg, Germany', 'institution_ids': ['https://openalex.org/I161103922']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5069232372', 'display_name': 'Melanie Peters', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I161103922', 'display_name': 'Philipps University of Marburg', 'ror': 'https://ror.org/01rdrb571', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I161103922']}], 'countries': ['DE'], 'is_corresponding': True, 'raw_author_name': 'MELANIE PETERS', 'raw_affiliation_strings': ['Department of Pediatrics, Philipps University, Marburg, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Philipps University, Marburg, Germany', 'institution_ids': ['https://openalex.org/I161103922']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5044907086', 'display_name': 'Joachim Misselwitz', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210134900', 'display_name': 'Jena University Hospital', 'ror': 'https://ror.org/035rzkx15', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210134900']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'JOACHIM MISSELWITZ', 'raw_affiliation_strings': ['Department of Pediatrics, University Hospital, Jena, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Hospital, Jena, Germany', 'institution_ids': ['https://openalex.org/I4210134900']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5079779968', 'display_name': 'G Rönnefarth', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210134900', 'display_name': 'Jena University Hospital', 'ror': 'https://ror.org/035rzkx15', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210134900']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'GABRIELE RÖNNEFARTH', 'raw_affiliation_strings': ['Department of Pediatrics, University Hospital, Jena, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Hospital, Jena, Germany', 'institution_ids': ['https://openalex.org/I4210134900']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5020387193', 'display_name': 'M. Böswald', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210088053', 'display_name': 'Universitätsklinikum Erlangen', 'ror': 'https://ror.org/0030f2a11', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210088053']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'MICHAEL BÖSWALD', 'raw_affiliation_strings': ['Department of Pediatrics, University Hospital, Erlangen, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Hospital, Erlangen, Germany', 'institution_ids': ['https://openalex.org/I4210088053']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5081975279', 'display_name': 'K. E. Bonzel', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210119759', 'display_name': 'Essen University Hospital', 'ror': 'https://ror.org/02na8dn90', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210119759']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'KLAUS E. BONZEL', 'raw_affiliation_strings': ['Department of Pediatrics, University Hospital, Essen, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Hospital, Essen, Germany', 'institution_ids': ['https://openalex.org/I4210119759']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5017569254', 'display_name': 'Tomáš Seeman', 'orcid': 'https://orcid.org/0000-0003-1371-3096'}, 'institutions': [{'id': 'https://openalex.org/I4210162037', 'display_name': 'General University Hospital in Prague', 'ror': 'https://ror.org/04yg23125', 'country_code': 'CZ', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210162037']}], 'countries': ['CZ'], 'is_corresponding': False, 'raw_author_name': 'TOMAS SEEMAN', 'raw_affiliation_strings': ['Department of Pediatrics, University Hospital, Prague, Czech Republic'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Hospital, Prague, Czech Republic', 'institution_ids': ['https://openalex.org/I4210162037']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5078945009', 'display_name': 'T Suláková', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210088935', 'display_name': 'University Hospital Ostrava', 'ror': 'https://ror.org/00a6yph09', 'country_code': 'CZ', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210088935']}], 'countries': ['CZ'], 'is_corresponding': False, 'raw_author_name': 'TEREZA SULÁKOVÁ', 'raw_affiliation_strings': ['Department of Pediatrics, University Hospital, Ostrava, Czech Republic'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Hospital, Ostrava, Czech Republic', 'institution_ids': ['https://openalex.org/I4210088935']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5054697257', 'display_name': 'Eberhard Kuwertz-Bröking', 'orcid': 'https://orcid.org/0000-0001-6399-0126'}, 'institutions': [], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'EBERHARD KUWERTZ-BRÖKING', 'raw_affiliation_strings': ['Department of Pediatrics, University Hospital, Mu[Combining Diaeresis]nster, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Hospital, Mu[Combining Diaeresis]nster, Germany', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5063895344', 'display_name': 'Alojz Gregorič', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I37696226', 'display_name': 'University of Maribor', 'ror': 'https://ror.org/01d5jce07', 'country_code': 'SI', 'type': 'education', 'lineage': ['https://openalex.org/I37696226']}], 'countries': ['SI'], 'is_corresponding': True, 'raw_author_name': 'ALOJZ GREGORIC', 'raw_affiliation_strings': ['Department of Pediatrics, University Hospital, Maribor, Slovenia'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Hospital, Maribor, Slovenia', 'institution_ids': ['https://openalex.org/I37696226']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5068556339', 'display_name': 'Jean‐Bernard Palcoux', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I198244214', 'display_name': 'Université Clermont Auvergne', 'ror': 'https://ror.org/01a8ajp46', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I198244214']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'JEAN-BERNARD PALCOUX', 'raw_affiliation_strings': ['Department of Pediatrics, University Hospital, Clermont-Ferrand, France'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Hospital, Clermont-Ferrand, France', 'institution_ids': ['https://openalex.org/I198244214']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5080890031', 'display_name': 'Velibor Tasić', 'orcid': 'https://orcid.org/0000-0002-3377-1245'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'VELIBOR TASIC', 'raw_affiliation_strings': ["Clinic for Children's Diseases, Skopje, Macedonia"], 'affiliations': [{'raw_affiliation_string': "Clinic for Children's Diseases, Skopje, Macedonia", 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5072545388', 'display_name': 'F Manz', 'orcid': 'https://orcid.org/0000-0002-7168-5110'}, 'institutions': [{'id': 'https://openalex.org/I4210115750', 'display_name': 'Forschungsinstitut für Kinderernährung', 'ror': 'https://ror.org/01z1z7017', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I4210115750', 'https://openalex.org/I4210153564']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'FRIEDRICH MANZ', 'raw_affiliation_strings': ['Research Institute of Child Nutrition, Dortmund, Germany'], 'affiliations': [{'raw_affiliation_string': 'Research Institute of Child Nutrition, Dortmund, Germany', 'institution_ids': ['https://openalex.org/I4210115750']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5090560165', 'display_name': 'K Schärer', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I223822909', 'display_name': 'Heidelberg University', 'ror': 'https://ror.org/038t36y30', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I223822909']}, {'id': 'https://openalex.org/I2802164966', 'display_name': 'University Hospital Heidelberg', 'ror': 'https://ror.org/013czdx64', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802164966']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'KARL SCHÄRER', 'raw_affiliation_strings': ['Department of Pediatrics, University Hospital, Heidelberg, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University Hospital, Heidelberg, Germany', 'institution_ids': ['https://openalex.org/I223822909', 'https://openalex.org/I2802164966']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5019224497', 'display_name': 'Hannsjörg W. Seyberth', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I161103922', 'display_name': 'Philipps University of Marburg', 'ror': 'https://ror.org/01rdrb571', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I161103922']}], 'countries': ['DE'], 'is_corresponding': True, 'raw_author_name': 'HANNSJÖRG W. SEYBERTH', 'raw_affiliation_strings': ['Department of Pediatrics, Philipps University, Marburg, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Philipps University, Marburg, Germany', 'institution_ids': ['https://openalex.org/I161103922']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5104107956', 'display_name': 'Martin Konrad', 'orcid': 'https://orcid.org/0000-0002-6533-092X'}, 'institutions': [{'id': 'https://openalex.org/I161103922', 'display_name': 'Philipps University of Marburg', 'ror': 'https://ror.org/01rdrb571', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I161103922']}], 'countries': ['DE'], 'is_corresponding': True, 'raw_author_name': 'MARTIN KONRAD', 'raw_affiliation_strings': ['Department of Pediatrics, Philipps University, Marburg, Germany'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Philipps University, Marburg, Germany', 'institution_ids': ['https://openalex.org/I161103922']}]}], 'institution_assertions': [], 'countries_distinct_count': 4, 'institutions_distinct_count': 11, 'corresponding_author_ids': ['https://openalex.org/A5101929042', 'https://openalex.org/A5027406256', 'https://openalex.org/A5069232372', 'https://openalex.org/A5063895344', 'https://openalex.org/A5019224497', 'https://openalex.org/A5104107956'], 'corresponding_institution_ids': ['https://openalex.org/I161103922', 'https://openalex.org/I161103922', 'https://openalex.org/I161103922', 'https://openalex.org/I37696226', 'https://openalex.org/I161103922', 'https://openalex.org/I161103922'], 'apc_list': None, 'apc_paid': None, 'fwci': 5.596, 'has_fulltext': False, 'cited_by_count': 260, 'citation_normalized_percentile': {'value': 0.999535, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 98, 'max': 99}, 'biblio': {'volume': '12', 'issue': '9', 'first_page': '1872', 'last_page': '1881'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11872', 'display_name': 'Blood-Brain Barrier and Neurovascular Interactions', 'score': 0.9992, 'subfield': {'id': 'https://openalex.org/subfields/2808', 'display_name': 'Neurology'}, 'field': {'id': 'https://openalex.org/fields/28', 'display_name': 'Neuroscience'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T11872', 'display_name': 'Blood-Brain Barrier and Neurovascular Interactions', 'score': 0.9992, 'subfield': {'id': 'https://openalex.org/subfields/2808', 'display_name': 'Neurology'}, 'field': {'id': 'https://openalex.org/fields/28', 'display_name': 'Neuroscience'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T11763', 'display_name': 'Management and Pathophysiology of Intracerebral Hemorrhage', 'score': 0.9741, '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/T11406', 'display_name': 'Brain Fluid Dynamics and Waste Clearance Mechanisms', 'score': 0.9663, 'subfield': {'id': 'https://openalex.org/subfields/2804', 'display_name': 'Cellular and Molecular Neuroscience'}, 'field': {'id': 'https://openalex.org/fields/28', 'display_name': 'Neuroscience'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/nephrocalcinosis', 'display_name': 'Nephrocalcinosis', 'score': 0.91278046}, {'id': 'https://openalex.org/keywords/hypocalciuria', 'display_name': 'Hypocalciuria', 'score': 0.6397759}, {'id': 'https://openalex.org/keywords/kidney-stone-disease', 'display_name': 'Kidney stone disease', 'score': 0.5051077}, {'id': 'https://openalex.org/keywords/hydrocephalus', 'display_name': 'Hydrocephalus', 'score': 0.460151}], 'concepts': [{'id': 'https://openalex.org/C2777724520', 'wikidata': 'https://www.wikidata.org/wiki/Q2526358', 'display_name': 'Hypercalciuria', 'level': 3, 'score': 0.96471155}, {'id': 'https://openalex.org/C2781145721', 'wikidata': 'https://www.wikidata.org/wiki/Q1527711', 'display_name': 'Nephrocalcinosis', 'level': 3, 'score': 0.91278046}, {'id': 'https://openalex.org/C2776183862', 'wikidata': 'https://www.wikidata.org/wiki/Q3771629', 'display_name': 'Hypomagnesemia', 'level': 3, 'score': 0.79516864}, {'id': 'https://openalex.org/C2780643589', 'wikidata': 'https://www.wikidata.org/wiki/Q12248844', 'display_name': 'Hypocalciuria', 'level': 4, 'score': 0.6397759}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.6339232}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.60401213}, {'id': 'https://openalex.org/C2779728849', 'wikidata': 'https://www.wikidata.org/wiki/Q178623', 'display_name': 'Kidney stone disease', 'level': 3, 'score': 0.5051077}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.47429684}, {'id': 'https://openalex.org/C180754005', 'wikidata': 'https://www.wikidata.org/wiki/Q80726', 'display_name': 'Allele', 'level': 3, 'score': 0.41892418}, {'id': 'https://openalex.org/C2779403450', 'wikidata': 'https://www.wikidata.org/wiki/Q178623', 'display_name': 'Kidney stones', 'level': 2, 'score': 0.40429887}, {'id': 'https://openalex.org/C90924648', 'wikidata': 'https://www.wikidata.org/wiki/Q120569', 'display_name': 'Gastroenterology', 'level': 1, 'score': 0.37403235}, {'id': 'https://openalex.org/C77411442', 'wikidata': 'https://www.wikidata.org/wiki/Q181100', 'display_name': 'Urinary system', 'level': 2, 'score': 0.36336094}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.31030178}, {'id': 'https://openalex.org/C2780091579', 'wikidata': 'https://www.wikidata.org/wiki/Q9377', 'display_name': 'Kidney', 'level': 2, 'score': 0.29825103}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.2836843}, {'id': 'https://openalex.org/C185592680', 'wikidata': 'https://www.wikidata.org/wiki/Q2329', 'display_name': 'Chemistry', 'level': 0, 'score': 0.16996619}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.079740345}, {'id': 'https://openalex.org/C178790620', 'wikidata': 'https://www.wikidata.org/wiki/Q11351', 'display_name': 'Organic chemistry', 'level': 1, 'score': 0.0}, {'id': 'https://openalex.org/C543218039', 'wikidata': 'https://www.wikidata.org/wiki/Q660', 'display_name': 'Magnesium', 'level': 2, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D002118', 'descriptor_name': 'Calcium', 'qualifier_ui': 'Q000652', 'qualifier_name': 'urine', 'is_major_topic': True}, {'descriptor_ui': 'D008274', 'descriptor_name': 'Magnesium', 'qualifier_ui': 'Q000097', 'qualifier_name': 'blood', 'is_major_topic': True}, {'descriptor_ui': 'D008565', 'descriptor_name': 'Membrane Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009397', 'descriptor_name': 'Nephrocalcinosis', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': True}, {'descriptor_ui': 'D009397', 'descriptor_name': 'Nephrocalcinosis', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000293', 'descriptor_name': 'Adolescent', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000595', 'descriptor_name': 'Amino Acid Sequence', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D000595', 'descriptor_name': 'Amino Acid Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002118', 'descriptor_name': 'Calcium', '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': 'D057167', 'descriptor_name': 'Claudins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015331', 'descriptor_name': 'Cohort Studies', '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': 'D005838', 'descriptor_name': 'Genotype', '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': 'D007223', 'descriptor_name': 'Infant', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007668', 'descriptor_name': 'Kidney', 'qualifier_ui': 'Q000503', 'qualifier_name': 'physiopathology', 'is_major_topic': False}, {'descriptor_ui': 'D007668', 'descriptor_name': 'Kidney', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008274', 'descriptor_name': 'Magnesium', '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': 'D008565', 'descriptor_name': 'Membrane Proteins', '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': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009397', 'descriptor_name': 'Nephrocalcinosis', 'qualifier_ui': 'Q000503', 'qualifier_name': 'physiopathology', 'is_major_topic': False}, {'descriptor_ui': 'D009397', 'descriptor_name': 'Nephrocalcinosis', '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': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1681/asn.v1291872', 'pdf_url': 'https://jasn.asnjournals.org/content/jnephrol/12/9/1872.full.pdf', 'source': {'id': 'https://openalex.org/S115693375', 'display_name': 'Journal of the American Society of Nephrology', 'issn_l': '1046-6673', 'issn': ['1046-6673', '1533-3450'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315620', 'host_organization_name': 'American Society of Nephrology', 'host_organization_lineage': ['https://openalex.org/P4310315620'], 'host_organization_lineage_names': ['American Society of Nephrology'], '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/11518780', '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/10.1681/asn.v1291872', 'pdf_url': 'https://jasn.asnjournals.org/content/jnephrol/12/9/1872.full.pdf', 'source': {'id': 'https://openalex.org/S115693375', 'display_name': 'Journal of the American Society of Nephrology', 'issn_l': '1046-6673', 'issn': ['1046-6673', '1533-3450'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315620', 'host_organization_name': 'American Society of Nephrology', 'host_organization_lineage': ['https://openalex.org/P4310315620'], 'host_organization_lineage_names': ['American Society of Nephrology'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 29, 'referenced_works': ['https://openalex.org/W12523792', 'https://openalex.org/W1484657140', 'https://openalex.org/W1527945661', 'https://openalex.org/W1573088094', 'https://openalex.org/W1965265115', 'https://openalex.org/W1996027687', 'https://openalex.org/W2009291880', 'https://openalex.org/W2013324446', 'https://openalex.org/W2019741263', 'https://openalex.org/W2026157746', 'https://openalex.org/W2034626424', 'https://openalex.org/W2049607381', 'https://openalex.org/W2050358233', 'https://openalex.org/W2056106838', 'https://openalex.org/W2064643595', 'https://openalex.org/W2066788085', 'https://openalex.org/W2074534151', 'https://openalex.org/W2074952408', 'https://openalex.org/W2076744665', 'https://openalex.org/W2079482620', 'https://openalex.org/W2091316741', 'https://openalex.org/W2101937063', 'https://openalex.org/W2102042382', 'https://openalex.org/W2145710403', 'https://openalex.org/W2148729290', 'https://openalex.org/W2155875532', 'https://openalex.org/W2286127041', 'https://openalex.org/W2329238560', 'https://openalex.org/W2468176265'], 'related_works': ['https://openalex.org/W4255038994', 'https://openalex.org/W4254695004', 'https://openalex.org/W4252368786', 'https://openalex.org/W3173734647', 'https://openalex.org/W2326119275', 'https://openalex.org/W2158886910', 'https://openalex.org/W2097771334', 'https://openalex.org/W2037922120', 'https://openalex.org/W1989089727', 'https://openalex.org/W1966771777'], 'abstract_inverted_index': {'Abstract.': [0], 'Familial': [1], 'hypomagnesemia': [2], 'with': [3, 18, 76, 85, 134, 182, 201], 'hypercalciuria': [4, 216], 'and': [5, 33, 65, 90, 137], 'nephrocalcinosis': [6], '(FHHNC)': [7], 'is': [8, 15, 25], 'an': [9], 'autosomal': [10], 'recessive': [11], 'tubular': [12, 29], 'disorder': [13], 'that': [14], 'frequently': [16], 'associated': [17], 'progressive': [19], 'renal': [20, 49, 124], 'failure.': [21], 'The': [22, 171], 'primary': [23], 'defect': [24], 'related': [26], 'to': [27, 109, 122, 140], 'impaired': [28], 'reabsorption': [30], 'of': [31, 40, 68, 72, 96, 102, 130, 147, 173, 184, 213, 230], 'magnesium': [32, 135], 'calcium': [34], 'in': [35, 44, 155, 221, 234], 'the': [36, 48, 58, 66, 100, 104, 145, 148, 176], 'thick': [37], 'ascending': [38], 'limb': [39], "Henle's": [41], 'loop.': [42], 'Mutations': [43], 'PCLN-1,': [45], 'which': [46], 'encodes': [47], 'tight': [50], 'junction': [51], 'protein': [52], 'paracellin-1': [53], '(claudin-16),': [54], 'were': [55, 165, 219], 'identified': [56], 'as': [57], 'underlying': [59], 'genetic': [60], 'defects.': [61], 'Comprehensive': [62], 'clinical': [63], 'data': [64], 'results': [67], 'PCLN-1': [69, 153, 232], 'mutation': [70], 'analysis': [71, 151, 193], '25': [73], 'FHHNC': [74, 202], 'families': [75], '33': [77], 'affected': [78], 'individuals': [79], 'are': [80], 'presented.': [81], 'Patients': [82], 'presented': [83], 'mainly': [84], 'urinary': [86], 'tract': [87], 'infections,': [88], 'polyuria,': [89], 'hematuria': [91], 'at': [92, 126], 'a': [93, 127, 189, 196, 227], 'median': [94, 128], 'age': [95, 129], '3.5': [97], 'yr.': [98, 132], 'At': [99], 'time': [101], 'diagnosis,': [103], 'GFR': [105], 'was': [106, 180], 'already': [107], 'decreased': [108], '<60': [110], 'ml/min': [111], 'per': [112], '1.73': [113], 'm2': [114], 'for': [115], '11': [116], 'patients.': [117], 'Twelve': [118], 'patients': [119, 200], 'exhibited': [120], 'progression': [121, 146], 'end-stage': [123], 'disease,': [125], '14.5': [131], 'Treatment': [133], 'salts': [136], 'thiazides': [138], 'seemed': [139], 'have': [141], 'no': [142], 'effect': [143, 198], 'on': [144], 'disease.': [149], 'Genotype': [150], 'revealed': [152], 'mutations': [154, 164, 174, 233], 'all': [156, 185], 'except': [157], 'three': [158], 'mutant': [159, 186], 'alleles': [160, 187], '(94%).': [161], 'Fifteen': [162], 'different': [163], 'observed,': [166], 'including': [167], 'eight': [168], 'novel': [169], 'mutations.': [170], 'accumulation': [172], 'affecting': [175], 'first': [177], 'extracellular': [178], 'loop': [179], 'striking,': [181], '48%': [183], 'exhibiting': [188], 'Leu151Phe': [190], 'exchange.': [191], 'Haplotype': [192], 'strongly': [194], 'suggested': [195], 'founder': [197], 'among': [199], 'who': [203], 'originated': [204], 'from': [205], 'Germany': [206], 'or': [207], 'eastern': [208], 'European': [209], 'countries.': [210], 'In': [211], '13': [212], '23': [214], 'families,': [215], 'and/or': [217], 'nephrolithiasis': [218], 'observed': [220], 'otherwise': [222], 'unaffected': [223], 'family': [224], 'members,': [225], 'indicating': [226], 'possible': [228], 'role': [229], 'heterozygous': [231], 'yielding': [235], 'hypercalciuric': [236], 'stone-forming': [237], 'conditions.': [238]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2158886910', 'counts_by_year': [{'year': 2024, 'cited_by_count': 6}, {'year': 2023, 'cited_by_count': 6}, {'year': 2022, 'cited_by_count': 6}, {'year': 2021, 'cited_by_count': 10}, {'year': 2020, 'cited_by_count': 8}, {'year': 2019, 'cited_by_count': 15}, {'year': 2018, 'cited_by_count': 10}, {'year': 2017, 'cited_by_count': 7}, {'year': 2016, 'cited_by_count': 11}, {'year': 2015, 'cited_by_count': 12}, {'year': 2014, 'cited_by_count': 10}, {'year': 2013, 'cited_by_count': 16}, {'year': 2012, 'cited_by_count': 16}], 'updated_date': '2024-09-17T16:47:03.668443', 'created_date': '2016-06-24'}