{"id":"https://openalex.org/W3213302147","doi":"https://doi.org/10.1002/jbt.22963","title":"Genetic variant in the 5\u02b9 untranslated region of endothelin1 (EDN1) gene in children with primary nephrotic syndrome","display_name":"Genetic variant in the 5\u02b9 untranslated region of endothelin1 (EDN1) gene in children with primary nephrotic syndrome","publication_year":2021,"publication_date":"2021-11-16","ids":{"openalex":"https://openalex.org/W3213302147","doi":"https://doi.org/10.1002/jbt.22963","mag":"3213302147","pmid":"https://pubmed.ncbi.nlm.nih.gov/34783119"},"language":"en","primary_location":{"id":"doi:10.1002/jbt.22963","doi":"https://doi.org/10.1002/jbt.22963","is_oa":false,"landing_page_url":"https://doi.org/10.1002/jbt.22963","pdf_url":null,"source":{"id":"https://openalex.org/S124830628","display_name":"Journal of Biochemical and Molecular Toxicology","issn_l":"0887-2082","issn":["0887-2082","1095-6670","1099-0461","1522-7146"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biochemical and Molecular Toxicology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5003293859","display_name":"Sohier Yahia","orcid":"https://orcid.org/0000-0002-6974-5997","observed_orcids":["https://orcid.org/0000-0002-6974-5997"]},"institutions":[{"id":"https://openalex.org/I159247623","display_name":"Mansoura University","ror":"https://ror.org/01k8vtd75","country_code":"EG","type":"education","lineage":["https://openalex.org/I159247623"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Sohier Yahia","raw_affiliation_strings":["Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt","institution_ids":["https://openalex.org/I159247623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051485018","display_name":"Ayman Mohammad Hammad","orcid":"https://orcid.org/0000-0003-1399-8562","observed_orcids":["https://orcid.org/0000-0003-1399-8562"]},"institutions":[{"id":"https://openalex.org/I159247623","display_name":"Mansoura University","ror":"https://ror.org/01k8vtd75","country_code":"EG","type":"education","lineage":["https://openalex.org/I159247623"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Ayman Hammad","raw_affiliation_strings":["Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt","institution_ids":["https://openalex.org/I159247623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077694322","display_name":"Abdel\u2010Hady El\u2010Gilany","orcid":"https://orcid.org/0000-0001-9376-6985","observed_orcids":["https://orcid.org/0000-0001-9376-6985"]},"institutions":[{"id":"https://openalex.org/I159247623","display_name":"Mansoura University","ror":"https://ror.org/01k8vtd75","country_code":"EG","type":"education","lineage":["https://openalex.org/I159247623"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Abdel\u2010Hady El\u2010Gilany","raw_affiliation_strings":["Department of Public Health, Faculty of Medicine, Mansoura University, Mansoura, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health, Faculty of Medicine, Mansoura University, Mansoura, Egypt","institution_ids":["https://openalex.org/I159247623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111927133","display_name":"Mohamed El\u2010Assmy","orcid":"https://orcid.org/0000-0003-3798-5811","observed_orcids":["https://orcid.org/0000-0003-3798-5811"]},"institutions":[{"id":"https://openalex.org/I159247623","display_name":"Mansoura University","ror":"https://ror.org/01k8vtd75","country_code":"EG","type":"education","lineage":["https://openalex.org/I159247623"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Mohamed El\u2010Assmy","raw_affiliation_strings":["Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt","institution_ids":["https://openalex.org/I159247623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5097422293","display_name":"Rasha El\u2010Tanbouly","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rasha El\u2010Tanbouly","raw_affiliation_strings":["Resident of Pediatrics and Neonatology, Aga Central Hospital, Aga, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Resident of Pediatrics and Neonatology, Aga Central Hospital, Aga, Egypt","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111243855","display_name":"Afaf M. Mohamed Elsaid","orcid":"https://orcid.org/0000-0002-0196-961X","observed_orcids":["https://orcid.org/0000-0002-0196-961X"]},"institutions":[{"id":"https://openalex.org/I159247623","display_name":"Mansoura University","ror":"https://ror.org/01k8vtd75","country_code":"EG","type":"education","lineage":["https://openalex.org/I159247623"]},{"id":"https://openalex.org/I4210087900","display_name":"Children's Hospital Mansoura University","ror":"https://ror.org/005wpyn57","country_code":"EG","type":"healthcare","lineage":["https://openalex.org/I4210087900"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Afaf M. Elsaid","raw_affiliation_strings":["Department of Biochemistry, Genetics Unit, Children Hospital, Mansoura University, Mansoura, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Genetics Unit, Children Hospital, Mansoura University, Mansoura, Egypt","institution_ids":["https://openalex.org/I159247623","https://openalex.org/I4210087900"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035573598","display_name":"Lamiaa Z. Elmoursi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I159247623","display_name":"Mansoura University","ror":"https://ror.org/01k8vtd75","country_code":"EG","type":"education","lineage":["https://openalex.org/I159247623"]},{"id":"https://openalex.org/I4210090611","display_name":"Mansoura University Hospital","ror":"https://ror.org/00c8rjz37","country_code":"EG","type":"healthcare","lineage":["https://openalex.org/I4210090611"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Lamiaa Z. Elmoursi","raw_affiliation_strings":["Department of Clinical Pathology, Student Hospital, Mansoura University, Mansoura, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Pathology, Student Hospital, Mansoura University, Mansoura, Egypt","institution_ids":["https://openalex.org/I159247623","https://openalex.org/I4210090611"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057888609","display_name":"Rami M. Elshazli","orcid":"https://orcid.org/0000-0002-3381-2641","observed_orcids":["https://orcid.org/0000-0002-3381-2641"]},"institutions":[{"id":"https://openalex.org/I4405268078","display_name":"Horus University \u2013 Egypt","ror":"https://ror.org/05qh69251","country_code":"EG","type":"education","lineage":["https://openalex.org/I4405268078"]}],"countries":["EG"],"is_corresponding":true,"raw_author_name":"Rami M. Elshazli","raw_affiliation_strings":["Department of Basic Sciences, Biochemistry and Molecular Genetics Unit, Faculty of Physical Therapy, Horus University - Egypt, New Damietta, Egypt"],"raw_orcid":"https://orcid.org/0000-0002-3381-2641","affiliations":[{"raw_affiliation_string":"Department of Basic Sciences, Biochemistry and Molecular Genetics Unit, Faculty of Physical Therapy, Horus University - Egypt, New Damietta, Egypt","institution_ids":["https://openalex.org/I4405268078"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5030412440","display_name":"Rasha M. S. Shoaib","orcid":"https://orcid.org/0000-0001-5150-7491","observed_orcids":["https://orcid.org/0000-0001-5150-7491"]},"institutions":[{"id":"https://openalex.org/I126427551","display_name":"Damietta University","ror":"https://ror.org/035h3r191","country_code":"EG","type":"education","lineage":["https://openalex.org/I126427551"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Rasha MS Shoaib","raw_affiliation_strings":["Department of Biochemistry, Faculty of Science, Damietta University, Damietta, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Faculty of Science, Damietta University, Damietta, Egypt","institution_ids":["https://openalex.org/I126427551"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5057888609"],"corresponding_institution_ids":["https://openalex.org/I4405268078"],"apc_list":{"value":3800,"currency":"USD","value_usd":3800},"apc_paid":null,"fwci":0.6677,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.64978351,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"36","issue":"3","first_page":"e22963","last_page":"e22963"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":1.0,"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":1.0,"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/T10408","display_name":"Chronic Kidney Disease and Diabetes","score":0.0,"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/T10993","display_name":"Complement system in diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/endothelin-1","display_name":"endothelin-1","score":0.9710000157356262},{"id":"https://openalex.org/keywords/edn1-gene","display_name":"EDN1 gene","score":0.9549999833106995},{"id":"https://openalex.org/keywords/5-untranslated-region","display_name":"5' untranslated region","score":0.906000018119812},{"id":"https://openalex.org/keywords/idiopathic-nephrotic-syndrome","display_name":"idiopathic nephrotic syndrome","score":0.9110000133514404},{"id":"https://openalex.org/keywords/steroid-resistant-nephrotic-syndrome","display_name":"steroid-resistant nephrotic syndrome","score":0.8790000081062317},{"id":"https://openalex.org/keywords/steroid-sensitive-nephrotic-syndrome","display_name":"steroid-sensitive nephrotic syndrome","score":0.9890000224113464},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.7409999966621399},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.421999990940094}],"concepts":[{"id":"https://openalex.org/C2778930706","wikidata":"https://www.wikidata.org/wiki/Q504790","display_name":"Nephrotic syndrome","level":2,"score":0.8210003972053528},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.7719744443893433},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5152300000190735},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.4868401885032654},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4445299208164215},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.423127681016922},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4117478132247925},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.37629517912864685},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3458298444747925},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.28447625041007996},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2705302834510803},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D002675","descriptor_name":"Child, Preschool","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","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":"D009404","descriptor_name":"Nephrotic Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019332","descriptor_name":"Endothelin-1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020121","descriptor_name":"5' Untranslated Regions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/jbt.22963","doi":"https://doi.org/10.1002/jbt.22963","is_oa":false,"landing_page_url":"https://doi.org/10.1002/jbt.22963","pdf_url":null,"source":{"id":"https://openalex.org/S124830628","display_name":"Journal of Biochemical and Molecular Toxicology","issn_l":"0887-2082","issn":["0887-2082","1095-6670","1099-0461","1522-7146"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biochemical and Molecular Toxicology","raw_type":"journal-article"},{"id":"pmid:34783119","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34783119","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":"Journal of biochemical and molecular toxicology","raw_type":"Clinical Trial"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":42,"referenced_works":["https://openalex.org/W1548437752","https://openalex.org/W1555940646","https://openalex.org/W1915650008","https://openalex.org/W1994069320","https://openalex.org/W2009870268","https://openalex.org/W2013601059","https://openalex.org/W2019680270","https://openalex.org/W2024732102","https://openalex.org/W2027597612","https://openalex.org/W2041613971","https://openalex.org/W2046035827","https://openalex.org/W2063941714","https://openalex.org/W2068561298","https://openalex.org/W2077155600","https://openalex.org/W2083769522","https://openalex.org/W2086479089","https://openalex.org/W2124749713","https://openalex.org/W2130814245","https://openalex.org/W2131937141","https://openalex.org/W2163543028","https://openalex.org/W2295334286","https://openalex.org/W2300410624","https://openalex.org/W2408156390","https://openalex.org/W2417636605","https://openalex.org/W2419407080","https://openalex.org/W2469484091","https://openalex.org/W2504116471","https://openalex.org/W2735089135","https://openalex.org/W2750801048","https://openalex.org/W2754148630","https://openalex.org/W2908804666","https://openalex.org/W2948302345","https://openalex.org/W2970737101","https://openalex.org/W2994918417","https://openalex.org/W2995632710","https://openalex.org/W3001400292","https://openalex.org/W3091244124","https://openalex.org/W3091878885","https://openalex.org/W3097530377","https://openalex.org/W3113981298","https://openalex.org/W4210343616","https://openalex.org/W4238426489"],"related_works":["https://openalex.org/W2617032991","https://openalex.org/W3113981298","https://openalex.org/W6962745169","https://openalex.org/W3001400292","https://openalex.org/W2024732102","https://openalex.org/W2743299878","https://openalex.org/W4294100791","https://openalex.org/W2071830703","https://openalex.org/W3207220805","https://openalex.org/W4385969557"],"abstract_inverted_index":{"Endothelin-1":[0],"plays":[1],"a":[2],"crucial":[3],"role":[4],"in":[5,12,73],"the":[6,23,26,32,64,78,112,115,134,145],"pathophysiology":[7],"of":[8,17,25,34,90,114,144],"nephrotic":[9,35,47,54,146],"syndrome":[10,147],"(NS)":[11],"children.":[13,149],"The":[14,67,88,129],"primary":[15],"purpose":[16],"this":[18,74],"study":[19,38,75],"is":[20,71],"to":[21,31],"evaluate":[22],"contribution":[24],"EDN1":[27,79,91,95,116,130,135],"(3A/4A;":[28,117],"rs1800997)":[29,118],"variant":[30,119],"risk":[33,142],"syndrome.":[36],"This":[37],"involves":[39],"200":[40],"participants":[41],"(100":[42],"healthy":[43,85,106],"controls,":[44],"50":[45,52],"steroid-sensitive":[46],"syndromes":[48,55],"[SSNS]":[49],"patients,":[50],"and":[51,84,94,133],"steroid-resistant":[53],"[SRNS]":[56],"patients].":[57],"Genomic":[58],"DNA":[59],"has":[60],"been":[61],"characterized":[62],"using":[63],"PCR-RFLP":[65],"technique.":[66],"predominant":[68],"genotype":[69,81,93,132],"that":[70],"common":[72],"population":[76],"was":[77,98,120],"3A/3A":[80],"(NS":[82],"[75%]":[83],"controls":[86],"[88%]).":[87],"prevalence":[89],"3A/4A":[92,131],"4A":[96,136],"allele":[97,137],"significantly":[99],"increased":[100],"among":[101,123,148],"NS":[102],"patients":[103,125],"compared":[104],"with":[105],"subjects":[107],"(p-value":[108,126],"<":[109,127],"0.05).":[110,128],"Furthermore,":[111],"frequency":[113],"statistically":[121],"significant":[122],"SRNS":[124],"were":[138],"identified":[139],"as":[140],"independent":[141],"factors":[143]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2021-11-22T00:00:00"}
