{"id":"https://openalex.org/W4395000591","doi":"https://doi.org/10.3390/ijms25084552","title":"The Phenotypic Variability Associated with Hepatocyte Nuclear Factor 1B Genetic Defects Poses Challenges in Both Diagnosis and Therapy","display_name":"The Phenotypic Variability Associated with Hepatocyte Nuclear Factor 1B Genetic Defects Poses Challenges in Both Diagnosis and Therapy","publication_year":2024,"publication_date":"2024-04-22","ids":{"openalex":"https://openalex.org/W4395000591","doi":"https://doi.org/10.3390/ijms25084552","pmid":"https://pubmed.ncbi.nlm.nih.gov/38674137","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11050681"},"language":"en","primary_location":{"id":"doi:10.3390/ijms25084552","doi":"https://doi.org/10.3390/ijms25084552","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms25084552","pdf_url":"https://www.mdpi.com/1422-0067/25/8/4552/pdf?version=1713766060","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/1422-0067/25/8/4552/pdf?version=1713766060","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5055315327","display_name":"Ioannis Petrakis","orcid":"https://orcid.org/0000-0002-0095-9823","observed_orcids":["https://orcid.org/0000-0002-0095-9823"]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Ioannis Petrakis","raw_affiliation_strings":["Department of Nephrology, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":"https://orcid.org/0000-0002-0095-9823","affiliations":[{"raw_affiliation_string":"Department of Nephrology, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022757966","display_name":"Maria Sfakiotaki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Maria Sfakiotaki","raw_affiliation_strings":["Department of Endocrinology, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029497377","display_name":"Mar\u00eda Bitsori","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Maria Bitsori","raw_affiliation_strings":["Department of Pediatrics, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023397755","display_name":"Eleni Drosataki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Eleni Drosataki","raw_affiliation_strings":["Department of Nephrology, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017994887","display_name":"Kleio Eleftheria Dermitzaki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Kleio Dermitzaki","raw_affiliation_strings":["Department of Nephrology, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001589534","display_name":"Christos Pleros","orcid":"https://orcid.org/0000-0001-8123-771X","observed_orcids":["https://orcid.org/0000-0001-8123-771X"]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Christos Pleros","raw_affiliation_strings":["Department of Nephrology, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":"https://orcid.org/0000-0001-8123-771X","affiliations":[{"raw_affiliation_string":"Department of Nephrology, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057363290","display_name":"Ariadni Androvitsanea","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Ariadni Androvitsanea","raw_affiliation_strings":["Department of Nephrology, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028590622","display_name":"Dimitrios N. Samonakis","orcid":"https://orcid.org/0000-0003-0418-4620","observed_orcids":["https://orcid.org/0000-0003-0418-4620"]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Dimitrios Samonakis","raw_affiliation_strings":["Department of Gastroenterology, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastroenterology, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018176645","display_name":"Amalia Sertedaki","orcid":"https://orcid.org/0000-0002-3648-3812","observed_orcids":["https://orcid.org/0000-0002-3648-3812"]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Amalia Sertedaki","raw_affiliation_strings":["First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece"],"raw_orcid":"https://orcid.org/0000-0002-3648-3812","affiliations":[{"raw_affiliation_string":"First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece","institution_ids":["https://openalex.org/I200777214"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038356661","display_name":"Paraskevi Xekouki","orcid":"https://orcid.org/0000-0001-5205-747X","observed_orcids":["https://orcid.org/0000-0001-5205-747X"]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Paraskevi Xekouki","raw_affiliation_strings":["Department of Endocrinology, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061418945","display_name":"Emmanouil Galanakis","orcid":"https://orcid.org/0000-0001-8456-5292","observed_orcids":["https://orcid.org/0000-0001-8456-5292"]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Emmanouil Galanakis","raw_affiliation_strings":["Department of Pediatrics, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5081057482","display_name":"Kostas Stylianou","orcid":"https://orcid.org/0000-0003-3678-9421","observed_orcids":["https://orcid.org/0000-0003-3678-9421"]},"institutions":[{"id":"https://openalex.org/I142617266","display_name":"University of Crete","ror":"https://ror.org/00dr28g20","country_code":"GR","type":"education","lineage":["https://openalex.org/I142617266"]}],"countries":["GR"],"is_corresponding":true,"raw_author_name":"Kostas Stylianou","raw_affiliation_strings":["Department of Nephrology, University of Crete, 71500 Heraklion, Greece"],"raw_orcid":"https://orcid.org/0000-0003-3678-9421","affiliations":[{"raw_affiliation_string":"Department of Nephrology, University of Crete, 71500 Heraklion, Greece","institution_ids":["https://openalex.org/I142617266"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5081057482"],"corresponding_institution_ids":["https://openalex.org/I142617266"],"apc_list":{"value":2900,"currency":"CHF","value_usd":3296},"apc_paid":{"value":2900,"currency":"CHF","value_usd":3296},"fwci":1.5859,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.81624475,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":98},"biblio":{"volume":"25","issue":"8","first_page":"4552","last_page":"4552"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.7339000105857849,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.7339000105857849,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.09440000355243683,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T12140","display_name":"Renal and related cancers","score":0.08749999850988388,"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/hnf1b","display_name":"HNF1B","score":0.9120000004768372},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.8880000114440918},{"id":"https://openalex.org/keywords/cystic-kidney-disease","display_name":"cystic kidney disease","score":0.8709999918937683},{"id":"https://openalex.org/keywords/renal-dysplasia","display_name":"renal dysplasia","score":0.8320000171661377},{"id":"https://openalex.org/keywords/diabetes-mellitus","display_name":"diabetes mellitus","score":0.9319999814033508},{"id":"https://openalex.org/keywords/pancreatic-dysplasia","display_name":"pancreatic dysplasia","score":0.9580000042915344},{"id":"https://openalex.org/keywords/hypomagnesemia","display_name":"hypomagnesemia","score":0.9879999756813049},{"id":"https://openalex.org/keywords/liver-dysfunction","display_name":"liver dysfunction","score":0.6420000195503235},{"id":"https://openalex.org/keywords/estimated-glomerular-filtration-rate-decline","display_name":"estimated glomerular filtration rate decline","score":0.8109999895095825},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.6729999780654907},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7229999899864197}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.700984537601471},{"id":"https://openalex.org/C99535661","wikidata":"https://www.wikidata.org/wiki/Q5731779","display_name":"Hepatocyte nuclear factors","level":4,"score":0.560144305229187},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4199155569076538},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.40302523970603943},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.39671871066093445},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3784703016281128},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3637027144432068},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.11558648943901062},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09709799289703369}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003920","descriptor_name":"Diabetes Mellitus","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D003920","descriptor_name":"Diabetes Mellitus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051539","descriptor_name":"Hepatocyte Nuclear Factor 1-beta","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.3390/ijms25084552","doi":"https://doi.org/10.3390/ijms25084552","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms25084552","pdf_url":"https://www.mdpi.com/1422-0067/25/8/4552/pdf?version=1713766060","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11050681","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11050681","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11050681/pdf/ijms-25-04552.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Int J Mol Sci","raw_type":"Text"},{"id":"pmid:38674137","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38674137","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International journal of molecular sciences","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.3390/ijms25084552","doi":"https://doi.org/10.3390/ijms25084552","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms25084552","pdf_url":"https://www.mdpi.com/1422-0067/25/8/4552/pdf?version=1713766060","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9922999739646912,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G6163003847","display_name":null,"funder_award_id":"996845022","funder_id":"https://openalex.org/F4320315315","funder_display_name":"Vermont Agency of Transportation"}],"funders":[{"id":"https://openalex.org/F4320315315","display_name":"Vermont Agency of Transportation","ror":"https://ror.org/05jas1v94"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4395000591.pdf","grobid_xml":"https://content.openalex.org/works/W4395000591.grobid-xml"},"referenced_works_count":13,"referenced_works":["https://openalex.org/W746678661","https://openalex.org/W1533216513","https://openalex.org/W2029457763","https://openalex.org/W2036098270","https://openalex.org/W2138920517","https://openalex.org/W2168831278","https://openalex.org/W2606299150","https://openalex.org/W2781519054","https://openalex.org/W2887346116","https://openalex.org/W3092134130","https://openalex.org/W4294903916","https://openalex.org/W4315853278","https://openalex.org/W4382560810"],"related_works":["https://openalex.org/W3045450791","https://openalex.org/W7204224336","https://openalex.org/W7116963858","https://openalex.org/W7214601917","https://openalex.org/W3092134130","https://openalex.org/W4396991848","https://openalex.org/W4397041153","https://openalex.org/W2586399115","https://openalex.org/W2913192265","https://openalex.org/W7061492953"],"abstract_inverted_index":{"The":[0,62],"evolving":[1],"landscape":[2],"of":[3,13,23,79,166],"clinical":[4,155],"genetics":[5],"is":[6],"becoming":[7],"increasingly":[8],"relevant":[9],"in":[10,99,111,117,128,143],"the":[11,37,96,136,140,164],"field":[12],"nephrology.":[14],"HNF1B-associated":[15,80],"renal":[16,24],"disease":[17,32],"presents":[18],"with":[19,56,147],"a":[20,159],"diverse":[21,90,167],"array":[22],"and":[25,33,44,88,123,139],"extrarenal":[26,91],"manifestations,":[27],"prominently":[28],"featuring":[29,84],"cystic":[30],"kidney":[31,81,114,144],"diabetes":[34],"mellitus.":[35],"For":[36],"genetic":[38,86,168],"analyses,":[39],"whole":[40],"exome":[41],"sequencing":[42],"(WES)":[43],"multiplex":[45],"ligation-dependent":[46],"probe":[47],"amplification":[48],"(MLPA)":[49],"were":[50],"performed.":[51],"Bioinformatics":[52],"analysis":[53],"was":[54,66,109],"performed":[55],"Ingenuity":[57],"Clinical":[58],"Insights":[59],"software":[60],"(Qiagen).":[61],"patient\u2019s":[63],"electronic":[64],"record":[65],"utilized":[67],"after":[68],"receiving":[69],"informed":[70],"consent.":[71],"In":[72],"this":[73],"report,":[74],"we":[75],"present":[76,110],"seven":[77],"cases":[78],"disease,":[82],"each":[83],"distinct":[85],"abnormalities":[87],"displaying":[89],"manifestations.":[92],"Over":[93],"12":[94],"years,":[95],"mean":[97],"decline":[98,142],"eGFR":[100],"averaged":[101],"\u22122.22":[102],"\u00b1":[103],"0.7":[104],"mL/min/1.73":[105],"m2.":[106],"Diabetes":[107],"mellitus":[108],"five":[112],"patients,":[113,119],"dysplastic":[115],"lesions":[116],"six":[118],"pancreatic":[120],"dysplasia,":[121],"hypomagnesemia":[122],"abnormal":[124],"liver":[125],"function":[126,145],"tests":[127],"three":[129],"patients":[130],"each.":[131],"This":[132],"case":[133],"series":[134],"emphasizes":[135],"phenotypic":[137],"variability":[138],"fast":[141],"associated":[146],"HNF-1B-related":[148],"disease.":[149],"Additionally,":[150],"it":[151],"underscores":[152],"that":[153],"complex":[154],"presentations":[156],"may":[157],"have":[158],"retrospectively":[160],"straightforward":[161],"explanation":[162],"through":[163],"use":[165],"analytical":[169],"tools.":[170]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2024-04-23T00:00:00"}
