{"id":"https://openalex.org/W2731689795","doi":null,"title":"Renal Involvement in 2 Siblings With Cockayne Syndrome.","display_name":"Renal Involvement in 2 Siblings With Cockayne Syndrome.","publication_year":2017,"publication_date":"2017-05-01","ids":{"openalex":"https://openalex.org/W2731689795","mag":"2731689795","pmid":"https://pubmed.ncbi.nlm.nih.gov/28575888"},"language":"en","primary_location":{"id":"pmh:oai:ijkd.org:article/2957","doi":null,"is_oa":true,"landing_page_url":"https://ijkd.org/index.php/ijkd/article/view/2957","pdf_url":"https://ijkd.org/index.php/ijkd/article/download/2957/929","source":{"id":"https://openalex.org/S2479614751","display_name":"Iranian Journal of Kidney Diseases","issn_l":"1735-8582","issn":["1735-8582","1735-8604"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"1735-8582","raw_type":"info:eu-repo/semantics/article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://ijkd.org/index.php/ijkd/article/download/2957/929","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5081215852","display_name":"Amel Ben Chehida","orcid":"https://orcid.org/0000-0001-7880-3215","observed_orcids":["https://orcid.org/0000-0001-7880-3215"]},"institutions":[{"id":"https://openalex.org/I108714496","display_name":"Tunis University","ror":"https://ror.org/02q1spa57","country_code":"TN","type":"education","lineage":["https://openalex.org/I108714496"]},{"id":"https://openalex.org/I4210098525","display_name":"H\u00f4pital La Rabta","ror":"https://ror.org/00gffbx54","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210098525"]},{"id":"https://openalex.org/I4403386600","display_name":"Facult\u00e9 de m\u00e9decine de Tunis","ror":"https://ror.org/03pyhhg10","country_code":"TN","type":"education","lineage":["https://openalex.org/I4403386600","https://openalex.org/I63596082"]},{"id":"https://openalex.org/I63596082","display_name":"Tunis El Manar University","ror":"https://ror.org/029cgt552","country_code":"TN","type":"education","lineage":["https://openalex.org/I63596082"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Amel Ben Chehida","raw_affiliation_strings":["Department of Pediatrics, La Rabta Hospital; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia. benchehida_amel@yahoo.fr"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, La Rabta Hospital; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia. benchehida_amel@yahoo.fr","institution_ids":["https://openalex.org/I108714496","https://openalex.org/I4210098525","https://openalex.org/I4403386600","https://openalex.org/I63596082"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110794227","display_name":"Narjess Ghali","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I108714496","display_name":"Tunis University","ror":"https://ror.org/02q1spa57","country_code":"TN","type":"education","lineage":["https://openalex.org/I108714496"]},{"id":"https://openalex.org/I4403386600","display_name":"Facult\u00e9 de m\u00e9decine de Tunis","ror":"https://ror.org/03pyhhg10","country_code":"TN","type":"education","lineage":["https://openalex.org/I4403386600","https://openalex.org/I63596082"]},{"id":"https://openalex.org/I63596082","display_name":"Tunis El Manar University","ror":"https://ror.org/029cgt552","country_code":"TN","type":"education","lineage":["https://openalex.org/I63596082"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Narjess Ghali","raw_affiliation_strings":["Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia. benchehida_amel@yahoo.fr"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia. benchehida_amel@yahoo.fr","institution_ids":["https://openalex.org/I108714496","https://openalex.org/I4403386600","https://openalex.org/I63596082"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069102171","display_name":"Rim Ben Abdelaziz","orcid":"https://orcid.org/0000-0002-7690-1310","observed_orcids":["https://orcid.org/0000-0002-7690-1310"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rim Ben Abdelaziz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112025038","display_name":"Fatma Ben Moussa","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fatma Ben Moussa","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5073224818","display_name":"N\u00e9ji Tebib","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Neji Tebib","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.4836,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.65042995,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"11","issue":"3","first_page":"253","last_page":"255"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.73580002784729,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.73580002784729,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.06629999727010727,"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/T10123","display_name":"DNA Repair Mechanisms","score":0.041600000113248825,"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/renal-involvement","display_name":"renal involvement","score":0.9359999895095825},{"id":"https://openalex.org/keywords/nephritic-syndrome","display_name":"nephritic syndrome","score":0.8309999704360962},{"id":"https://openalex.org/keywords/hyperreninemia","display_name":"hyperreninemia","score":0.796999990940094},{"id":"https://openalex.org/keywords/hyperaldosteronism","display_name":"hyperaldosteronism","score":0.9990000128746033},{"id":"https://openalex.org/keywords/focal-segmental-glomerulosclerosis","display_name":"focal segmental glomerulosclerosis","score":0.925000011920929},{"id":"https://openalex.org/keywords/tubulointerstitial-fibrosis","display_name":"tubulointerstitial fibrosis","score":0.8980000019073486},{"id":"https://openalex.org/keywords/premature-aging","display_name":"premature aging","score":0.8059999942779541},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9459999799728394},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.7310000061988831}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8604465126991272},{"id":"https://openalex.org/C2779371275","wikidata":"https://www.wikidata.org/wiki/Q914389","display_name":"Cockayne syndrome","level":5,"score":0.5716762542724609},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.554668128490448},{"id":"https://openalex.org/C2777390665","wikidata":"https://www.wikidata.org/wiki/Q5571239","display_name":"Glomerulosclerosis","level":4,"score":0.4969673454761505},{"id":"https://openalex.org/C2778415529","wikidata":"https://www.wikidata.org/wiki/Q1435223","display_name":"Focal segmental glomerulosclerosis","level":4,"score":0.4592989981174469},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.4368005692958832},{"id":"https://openalex.org/C2778653478","wikidata":"https://www.wikidata.org/wiki/Q1054718","display_name":"Kidney disease","level":2,"score":0.42910507321357727},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3279465436935425},{"id":"https://openalex.org/C2780368995","wikidata":"https://www.wikidata.org/wiki/Q605006","display_name":"Glomerulonephritis","level":3,"score":0.3041244149208069},{"id":"https://openalex.org/C2779561371","wikidata":"https://www.wikidata.org/wiki/Q570197","display_name":"Proteinuria","level":3,"score":0.14355793595314026},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.10281524062156677},{"id":"https://openalex.org/C104451858","wikidata":"https://www.wikidata.org/wiki/Q2714458","display_name":"Nucleotide excision repair","level":4,"score":0.0},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001284","descriptor_name":"Atrophy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001706","descriptor_name":"Biopsy","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":"D003057","descriptor_name":"Cockayne Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D003057","descriptor_name":"Cockayne Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D003057","descriptor_name":"Cockayne Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005355","descriptor_name":"Fibrosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005923","descriptor_name":"Glomerulosclerosis, Focal Segmental","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005923","descriptor_name":"Glomerulosclerosis, Focal Segmental","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D005923","descriptor_name":"Glomerulosclerosis, Focal Segmental","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005923","descriptor_name":"Glomerulosclerosis, Focal Segmental","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009404","descriptor_name":"Nephrotic Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009404","descriptor_name":"Nephrotic Syndrome","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D009404","descriptor_name":"Nephrotic Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009404","descriptor_name":"Nephrotic Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035781","descriptor_name":"Siblings","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D045643","descriptor_name":"DNA Repair Enzymes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051437","descriptor_name":"Renal Insufficiency","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D051437","descriptor_name":"Renal Insufficiency","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D051437","descriptor_name":"Renal Insufficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051437","descriptor_name":"Renal Insufficiency","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmh:oai:ijkd.org:article/2957","doi":null,"is_oa":true,"landing_page_url":"https://ijkd.org/index.php/ijkd/article/view/2957","pdf_url":"https://ijkd.org/index.php/ijkd/article/download/2957/929","source":{"id":"https://openalex.org/S2479614751","display_name":"Iranian Journal of Kidney Diseases","issn_l":"1735-8582","issn":["1735-8582","1735-8604"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"1735-8582","raw_type":"info:eu-repo/semantics/article"},{"id":"pmid:28575888","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28575888","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":"Iranian journal of kidney diseases","raw_type":"Case Reports"},{"id":"mag:2731689795","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28575888","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:ijkd.org:article/2957","doi":null,"is_oa":true,"landing_page_url":"https://ijkd.org/index.php/ijkd/article/view/2957","pdf_url":"https://ijkd.org/index.php/ijkd/article/download/2957/929","source":{"id":"https://openalex.org/S2479614751","display_name":"Iranian Journal of Kidney Diseases","issn_l":"1735-8582","issn":["1735-8582","1735-8604"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"1735-8582","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2731689795.pdf","grobid_xml":"https://content.openalex.org/works/W2731689795.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W306394814","https://openalex.org/W2909514200","https://openalex.org/W1988118098","https://openalex.org/W7214185528","https://openalex.org/W249382952","https://openalex.org/W1798812679","https://openalex.org/W2085540626","https://openalex.org/W3109043347","https://openalex.org/W3210596501","https://openalex.org/W3029639937"],"abstract_inverted_index":{"Renal":[0,71],"involvement":[1],"in":[2,92,104,126],"Cockayne":[3,20,105,127],"syndrome":[4,21,41,106,128],"is":[5,10],"rare":[6],"and":[7,27,42,57,62,85,119],"its":[8],"pathogenesis":[9],"yet":[11],"unknown.":[12],"We":[13],"report":[14],"herein":[15],"2":[16],"cases":[17],"(siblings)":[18],"with":[19,39],"type":[22,107],"A":[23,108],"confirmed":[24],"by":[25],"biochemical":[26],"molecular":[28],"assays.":[29],"The":[30,88],"first":[31],"case":[32],"was":[33],"a":[34,43,137],"13-year-old":[35],"girl":[36],"who":[37],"presented":[38],"nephritic":[40],"rapidly":[44],"progressive":[45],"kidney":[46,65,124],"failure.":[47],"Her":[48],"younger":[49],"sister,":[50,76,113],"7":[51],"years":[52],"old,":[53],"exhibited":[54],"hypertension,":[55],"hyperfiltration,":[56],"microalbuminuria.":[58],"She":[59],"had":[60],"hyperreninemia":[61],"hyperaldosteronemia":[63],"without":[64],"failure":[66],"or":[67],"renal":[68],"arterial":[69],"stenosis.":[70],"biopsy,":[72],"performed":[73],"the":[74,93,97,111,114],"older":[75,112],"revealed":[77],"cystic":[78],"focal":[79,116],"segmental":[80],"glomerulosclerosis,":[81],"arteriosclerosis,":[82],"tubulointerstitial":[83],"fibrosis,":[84],"tubular":[86],"atrophy.":[87],"different":[89],"clinical":[90],"phenotypes":[91],"two":[94],"siblings":[95],"support":[96],"absence":[98],"of":[99],"an":[100],"obvious":[101],"genotype-phenotype":[102],"correlation":[103],"patients.":[109],"In":[110],"particular":[115],"glomerular":[117],"sclerosis":[118],"senile":[120],"lesions":[121],"assume":[122],"that":[123],"disease":[125],"may":[129],"be":[130],"related":[131],"to":[132,136],"prematurely":[133],"aging":[134],"secondary":[135],"defective":[138],"nucleotide":[139],"repair.":[140]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2017-07-14T00:00:00"}