{"id":"https://openalex.org/W2999255802","doi":"https://doi.org/10.1111/nep.13693","title":"Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome","display_name":"Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome","publication_year":2020,"publication_date":"2020-01-11","ids":{"openalex":"https://openalex.org/W2999255802","doi":"https://doi.org/10.1111/nep.13693","mag":"2999255802","pmid":"https://pubmed.ncbi.nlm.nih.gov/31925849"},"language":"en","primary_location":{"id":"doi:10.1111/nep.13693","doi":"https://doi.org/10.1111/nep.13693","is_oa":false,"landing_page_url":"https://doi.org/10.1111/nep.13693","pdf_url":null,"source":{"id":"https://openalex.org/S99619495","display_name":"Nephrology","issn_l":"1320-5358","issn":["1320-5358","1440-1797"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","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":"Nephrology","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/A5013636040","display_name":"Niveditha Girimaji","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I45294948","display_name":"Post Graduate Institute of Medical Education and Research","ror":"https://ror.org/009nfym65","country_code":"IN","type":"education","lineage":["https://openalex.org/I45294948"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Niveditha Girimaji","raw_affiliation_strings":["Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India","institution_ids":["https://openalex.org/I45294948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041381343","display_name":"Sakthivel Murugan Sm","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sakthivel Murugan SM","raw_affiliation_strings":["MedGenome Labs Ltd., Bangalore, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MedGenome Labs Ltd., Bangalore, India","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084921714","display_name":"Ritambhra Nada","orcid":"https://orcid.org/0000-0002-8955-1428","observed_orcids":["https://orcid.org/0000-0002-8955-1428"]},"institutions":[{"id":"https://openalex.org/I45294948","display_name":"Post Graduate Institute of Medical Education and Research","ror":"https://ror.org/009nfym65","country_code":"IN","type":"education","lineage":["https://openalex.org/I45294948"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ritambhra Nada","raw_affiliation_strings":["Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India","institution_ids":["https://openalex.org/I45294948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103583617","display_name":"Ashish Sharma","orcid":"https://orcid.org/0000-0002-4617-2102","observed_orcids":["https://orcid.org/0000-0002-4617-2102"]},"institutions":[{"id":"https://openalex.org/I45294948","display_name":"Post Graduate Institute of Medical Education and Research","ror":"https://ror.org/009nfym65","country_code":"IN","type":"education","lineage":["https://openalex.org/I45294948"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ashish Sharma","raw_affiliation_strings":["Department of Renal Transplant Surgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Renal Transplant Surgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India","institution_ids":["https://openalex.org/I45294948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102968662","display_name":"Manish Rathi","orcid":"https://orcid.org/0000-0002-7689-2506","observed_orcids":["https://orcid.org/0000-0002-7689-2506"]},"institutions":[{"id":"https://openalex.org/I45294948","display_name":"Post Graduate Institute of Medical Education and Research","ror":"https://ror.org/009nfym65","country_code":"IN","type":"education","lineage":["https://openalex.org/I45294948"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Manish Rathi","raw_affiliation_strings":["Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India","institution_ids":["https://openalex.org/I45294948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010273437","display_name":"Harbir Singh Kohli","orcid":"https://orcid.org/0000-0003-4806-2297","observed_orcids":["https://orcid.org/0000-0003-4806-2297"]},"institutions":[{"id":"https://openalex.org/I45294948","display_name":"Post Graduate Institute of Medical Education and Research","ror":"https://ror.org/009nfym65","country_code":"IN","type":"education","lineage":["https://openalex.org/I45294948"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Harbir S. Kohli","raw_affiliation_strings":["Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India","institution_ids":["https://openalex.org/I45294948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108701993","display_name":"Krishna L. Gupta","orcid":"https://orcid.org/0000-0001-5713-6919","observed_orcids":["https://orcid.org/0000-0001-5713-6919"]},"institutions":[{"id":"https://openalex.org/I45294948","display_name":"Post Graduate Institute of Medical Education and Research","ror":"https://ror.org/009nfym65","country_code":"IN","type":"education","lineage":["https://openalex.org/I45294948"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Krishna L. Gupta","raw_affiliation_strings":["Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India"],"raw_orcid":"https://orcid.org/0000-0001-5713-6919","affiliations":[{"raw_affiliation_string":"Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India","institution_ids":["https://openalex.org/I45294948"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5000607778","display_name":"Raja Ramachandran","orcid":"https://orcid.org/0000-0002-1273-9107","observed_orcids":["https://orcid.org/0000-0002-1273-9107"]},"institutions":[{"id":"https://openalex.org/I45294948","display_name":"Post Graduate Institute of Medical Education and Research","ror":"https://ror.org/009nfym65","country_code":"IN","type":"education","lineage":["https://openalex.org/I45294948"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Raja Ramachandran","raw_affiliation_strings":["Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India"],"raw_orcid":"https://orcid.org/0000-0002-1273-9107","affiliations":[{"raw_affiliation_string":"Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India","institution_ids":["https://openalex.org/I45294948"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5000607778"],"corresponding_institution_ids":["https://openalex.org/I45294948"],"apc_list":{"value":3600,"currency":"USD","value_usd":3600},"apc_paid":null,"fwci":0.472,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.62340292,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"25","issue":"6","first_page":"497","last_page":"501"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9980000257492065,"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":0.9980000257492065,"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.0003000000142492354,"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/T10373","display_name":"Renal Transplantation Outcomes and Treatments","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2747","display_name":"Transplantation"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/autosomal-recessive-alport-syndrome","display_name":"autosomal recessive Alport syndrome","score":0.9399999976158142},{"id":"https://openalex.org/keywords/type-iv-collagen","display_name":"type IV collagen","score":0.8870000243186951},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.675000011920929},{"id":"https://openalex.org/keywords/kidney-transplantation","display_name":"kidney transplantation","score":0.6909999847412109},{"id":"https://openalex.org/keywords/end-stage-renal-disease","display_name":"end-stage renal disease","score":0.7160000205039978},{"id":"https://openalex.org/keywords/lenticonus","display_name":"lenticonus","score":0.9390000104904175},{"id":"https://openalex.org/keywords/sensorineural-hearing-loss","display_name":"sensorineural hearing loss","score":0.8740000128746033},{"id":"https://openalex.org/keywords/heterozygous-parents","display_name":"heterozygous parents","score":0.6340000033378601},{"id":"https://openalex.org/keywords/family-studies","display_name":"family studies","score":0.382999986410141},{"id":"https://openalex.org/keywords/kidney-donors","display_name":"kidney donors","score":0.35199999809265137}],"concepts":[{"id":"https://openalex.org/C2776908417","wikidata":"https://www.wikidata.org/wiki/Q1331116","display_name":"Alport syndrome","level":4,"score":0.8564777374267578},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8351339101791382},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6216328740119934},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5834905505180359},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5331404209136963},{"id":"https://openalex.org/C2911091166","wikidata":"https://www.wikidata.org/wiki/Q106419912","display_name":"Transplantation","level":2,"score":0.5075015425682068},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.4129383862018585},{"id":"https://openalex.org/C2780368995","wikidata":"https://www.wikidata.org/wiki/Q605006","display_name":"Glomerulonephritis","level":3,"score":0.27690455317497253},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.17616623640060425},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.14159491658210754},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.13937896490097046}],"mesh":[{"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":"D001324","descriptor_name":"Autoantigens","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":false},{"descriptor_ui":"D016030","descriptor_name":"Kidney Transplantation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D024141","descriptor_name":"Collagen Type IV","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/nep.13693","doi":"https://doi.org/10.1111/nep.13693","is_oa":false,"landing_page_url":"https://doi.org/10.1111/nep.13693","pdf_url":null,"source":{"id":"https://openalex.org/S99619495","display_name":"Nephrology","issn_l":"1320-5358","issn":["1320-5358","1440-1797"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","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":"Nephrology","raw_type":"journal-article"},{"id":"pmid:31925849","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31925849","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":"Nephrology (Carlton, Vic.)","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W1550732922","https://openalex.org/W1586219598","https://openalex.org/W2011130182","https://openalex.org/W2051978340","https://openalex.org/W2106091175","https://openalex.org/W2113593098","https://openalex.org/W2124964208","https://openalex.org/W2125360224","https://openalex.org/W2152238541","https://openalex.org/W2259779968","https://openalex.org/W2519419350","https://openalex.org/W2794291443","https://openalex.org/W2827559089","https://openalex.org/W2972126565"],"related_works":["https://openalex.org/W2278732773","https://openalex.org/W2037801132","https://openalex.org/W2077130201","https://openalex.org/W4411250380","https://openalex.org/W3187451013","https://openalex.org/W2011371767","https://openalex.org/W3045810941","https://openalex.org/W4397045907","https://openalex.org/W2113593098","https://openalex.org/W2067510431"],"abstract_inverted_index":{"Alport":[0],"syndrome":[1],"(AS)":[2],"is":[3],"an":[4,67],"inherited":[5],"disorder":[6],"of":[7,16,39,83,96],"basement":[8],"membranes":[9],"caused":[10],"by":[11],"mutations":[12],"affecting":[13],"specific":[14],"proteins":[15],"the":[17,40,63,84,92,108,112,119],"type":[18],"IV":[19],"collagen":[20],"family,":[21],"presenting":[22],"with":[23,42,70,124,141],"nephropathy":[24],"and":[25,32,115,130],"extrarenal":[26],"manifestations":[27],"such":[28],"as":[29,144],"sensorineural":[30],"deafness":[31],"ocular":[33],"anomalies.":[34],"Ten":[35],"percentage":[36],"to":[37,49],"15%":[38],"patients":[41],"AS":[43],"have":[44],"autosomal":[45],"recessive":[46],"(ARAS)":[47],"due":[48],"mutation":[50,61],"in":[51,62,66,80,91,107,111,118],"either":[52],"COL4A3":[53,64,85],"or":[54],"COL4A4":[55],"gene.":[56],"We":[57],"report":[58],"a":[59,77,145],"novel":[60],"gene":[65,86],"Indian":[68],"family":[69],"ARAS.":[71],"The":[72,133],"above-mentioned":[73],"genetic":[74],"anomaly":[75],"was":[76,105],"missense":[78],"variation":[79],"exon":[81],"26":[82],"(chr2:228137797G>A;":[87],"c.1891G>A)":[88],"that":[89,104],"resulted":[90],"amino":[93],"acid":[94],"substitution":[95],"Arginine":[97],"for":[98],"Glycine":[99],"at":[100],"codon":[101],"631":[102],"(p.Gly631Arg)":[103],"present":[106],"heterozygous":[109],"state":[110,117],"asymptomatic":[113],"parents":[114],"homozygous":[116],"male":[120],"offspring":[121],"who":[122],"presented":[123],"early-onset":[125],"end-stage":[126],"renal":[127,139],"disease,":[128],"lenticonus":[129],"hearing":[131],"loss.":[132],"patient":[134],"(male":[135],"offspring)":[136],"underwent":[137],"successful":[138],"transplantation":[140],"his":[142],"mother":[143],"donor.":[146]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2020-01-23T00:00:00"}
