{"id":"https://openalex.org/W4409419071","doi":"https://doi.org/10.36922/gpd.7656","title":"Revisiting Alport syndrome: Genetic background, phenotypic variability, and therapeutic approaches","display_name":"Revisiting Alport syndrome: Genetic background, phenotypic variability, and therapeutic approaches","publication_year":2025,"publication_date":"2025-04-10","ids":{"openalex":"https://openalex.org/W4409419071","doi":"https://doi.org/10.36922/gpd.7656"},"language":"en","primary_location":{"id":"doi:10.36922/gpd.7656","doi":"https://doi.org/10.36922/gpd.7656","is_oa":true,"landing_page_url":"https://doi.org/10.36922/gpd.7656","pdf_url":null,"source":{"id":"https://openalex.org/S4387281554","display_name":"Gene & Protein in Disease","issn_l":"2811-003X","issn":["2811-003X"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gene &amp; Protein in Disease","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.36922/gpd.7656","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5092165653","display_name":"Jo\u00e3o Venda","orcid":"https://orcid.org/0009-0006-5124-973X","observed_orcids":["https://orcid.org/0009-0006-5124-973X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jo\u00e3o Venda","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Beatriz Ferreira","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Beatriz Ferreira","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Andreia Henriques","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andreia Henriques","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081846228","display_name":"Rita Gomes Carlos Leal","orcid":"https://orcid.org/0000-0003-0614-3902","observed_orcids":["https://orcid.org/0000-0003-0614-3902"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rita Leal","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Ana Galv\u00e3o","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ana Galv\u00e3o","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":null,"display_name":"Rui Alves","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rui Alves","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.5726,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.60236673,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"4","issue":"2","first_page":"7656","last_page":"7656"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9994999766349792,"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":0.9994999766349792,"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":9.999999747378752e-05,"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":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/alport-syndrome","display_name":"Alport syndrome","score":1.0},{"id":"https://openalex.org/keywords/type-iv-collagen","display_name":"type IV collagen","score":0.9200000166893005},{"id":"https://openalex.org/keywords/col4a3","display_name":"COL4A3","score":0.9869999885559082},{"id":"https://openalex.org/keywords/col4a4","display_name":"COL4A4","score":1.0},{"id":"https://openalex.org/keywords/col4a5","display_name":"COL4A5","score":1.0},{"id":"https://openalex.org/keywords/glomerular-basement-membrane","display_name":"glomerular basement membrane","score":0.7770000100135803},{"id":"https://openalex.org/keywords/hereditary-nephropathy","display_name":"hereditary nephropathy","score":0.7250000238418579},{"id":"https://openalex.org/keywords/end-stage-renal-disease","display_name":"end-stage renal disease","score":0.9020000100135803},{"id":"https://openalex.org/keywords/hearing-loss","display_name":"hearing loss","score":0.7950000166893005},{"id":"https://openalex.org/keywords/ocular-abnormalities","display_name":"ocular abnormalities","score":0.8569999933242798},{"id":"https://openalex.org/keywords/molecular-genetic-testing","display_name":"molecular genetic testing","score":0.6290000081062317},{"id":"https://openalex.org/keywords/kidney-biopsy","display_name":"renal biopsy","score":0.7070000171661377},{"id":"https://openalex.org/keywords/renin-angiotensin-aldosterone-system-blockade","display_name":"renin-angiotensin-aldosterone system blockade","score":0.9800000190734863},{"id":"https://openalex.org/keywords/sglt2-inhibitors","display_name":"SGLT2 inhibitors","score":0.9589999914169312},{"id":"https://openalex.org/keywords/mineralocorticoid-receptor-antagonists","display_name":"mineralocorticoid receptor antagonists","score":1.0},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.9150000214576721},{"id":"https://openalex.org/keywords/cell-therapy","display_name":"cell therapy","score":0.7990000247955322},{"id":"https://openalex.org/keywords/personalized-medicine","display_name":"personalized medicine","score":0.6340000033378601},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.8899999856948853}],"concepts":[{"id":"https://openalex.org/C2776908417","wikidata":"https://www.wikidata.org/wiki/Q1331116","display_name":"Alport syndrome","level":4,"score":0.6785156726837158},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6606382131576538},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.42979931831359863},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.42543086409568787},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.371156245470047},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3645963966846466},{"id":"https://openalex.org/C2780368995","wikidata":"https://www.wikidata.org/wiki/Q605006","display_name":"Glomerulonephritis","level":3,"score":0.17863789200782776},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08717367053031921},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.36922/gpd.7656","doi":"https://doi.org/10.36922/gpd.7656","is_oa":true,"landing_page_url":"https://doi.org/10.36922/gpd.7656","pdf_url":null,"source":{"id":"https://openalex.org/S4387281554","display_name":"Gene & Protein in Disease","issn_l":"2811-003X","issn":["2811-003X"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gene &amp; Protein in Disease","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.36922/gpd.7656","doi":"https://doi.org/10.36922/gpd.7656","is_oa":true,"landing_page_url":"https://doi.org/10.36922/gpd.7656","pdf_url":null,"source":{"id":"https://openalex.org/S4387281554","display_name":"Gene & Protein in Disease","issn_l":"2811-003X","issn":["2811-003X"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gene &amp; Protein in Disease","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7222831338","https://openalex.org/W4414147555","https://openalex.org/W4386391381","https://openalex.org/W7220839000","https://openalex.org/W4404382370","https://openalex.org/W7170829356","https://openalex.org/W2888605992","https://openalex.org/W3119228717","https://openalex.org/W3164057603","https://openalex.org/W4283753719"],"abstract_inverted_index":{"Nearly":[0],"a":[1,33,76,104,144],"century":[2],"has":[3],"passed":[4],"since":[5],"Cecil":[6],"A.":[7],"Alport":[8,95,141,239],"first":[9],"described":[10],"the":[11,26,80,169,209,221,232,241,260],"triad":[12],"of":[13,36,55,61,73,84,164,171,238,263],"nephritis,":[14],"hearing":[15],"loss,":[16],"and":[17,32,45,58,82,87,106,138,183,204,235,247,250,254],"ocular":[18,88],"abnormalities":[19],"that":[20],"would":[21],"later":[22],"be":[23],"recognized":[24],"as":[25],"second":[27],"most":[28],"common":[29],"inherited":[30],"nephropathy":[31],"significant":[34,132],"cause":[35],"end-stage":[37,151],"kidney":[38,118,152],"disease.":[39,265],"Pathogenic":[40],"variants":[41],"in":[42,134,150,198],"COL4A3,":[43],"COL4A4,":[44],"COL4A5":[46],"genes":[47],"lead":[48],"to":[49,69,115,211],"compromised":[50],"synthesis,":[51],"assembly,":[52],"and/or":[53],"function":[54,83],"\u03b13,":[56],"\u03b14,":[57],"\u03b15":[59],"chains":[60],"type":[62],"IV":[63],"collagen":[64],"(COL4).":[65],"This":[66],"disruption":[67],"leads":[68],"an":[70],"abnormal":[71],"trimerization":[72],"COL4":[74],"into":[75],"stable":[77],"network,":[78],"impairing":[79],"integrity":[81],"glomerular,":[85],"cochlear,":[86],"basement":[89,128],"membranes.":[90],"The":[91],"gold":[92],"standard":[93],"for":[94,190,223],"syndrome":[96,142],"diagnosis":[97],"is":[98,168],"molecular":[99,139],"genetic":[100,116,137,233],"testing,":[101,117],"which":[102],"provides":[103],"non-invasive":[105],"highly":[107],"specific":[108],"approach.":[109],"In":[110,194,227],"settings":[111],"with":[112,120],"limited":[113],"access":[114],"biopsy":[119],"electron":[121],"microscopy":[122],"remains":[123,143],"essential,":[124],"revealing":[125],"characteristic":[126],"glomerular":[127],"membrane":[129],"abnormalities.":[130],"Despite":[131],"advancements":[133],"understanding":[135],"its":[136],"basis,":[140],"relentlessly":[145],"progressive":[146],"disorder,":[147],"often":[148],"culminating":[149],"disease":[153,175,213],"during":[154],"early":[155,162],"adulthood.":[156],"While":[157],"no":[158],"disease-specific":[159],"therapy":[160],"exists,":[161],"initiation":[163],"renin-angiotensin-aldosterone":[165],"system":[166],"blockade":[167],"cornerstone":[170],"AS":[172],"management,":[173],"delaying":[174],"progression.":[176],"Emerging":[177],"therapies,":[178],"including":[179,202],"sodium-glucose":[180],"cotransporter-2":[181],"inhibitors":[182],"mineralocorticoid":[184],"receptor":[185],"antagonists,":[186],"are":[187],"being":[188],"investigated":[189],"their":[191],"nephroprotective":[192],"potential.":[193],"addition,":[195],"recent":[196],"breakthroughs":[197],"therapeutic":[199,225],"research":[200],"\u2013":[201,207],"gene-":[203],"cell-based":[205],"treatments":[206],"hold":[208],"potential":[210],"transform":[212],"management.":[214],"Genetic":[215],"factors":[216],"influence":[217],"treatment":[218],"response,":[219],"reinforcing":[220],"need":[222],"personalized":[224],"approaches.":[226],"this":[228,264],"review,":[229],"we":[230],"discuss":[231],"background":[234],"phenotypic":[236],"correlations":[237],"syndrome,":[240],"pathophysiological":[242],"mechanisms":[243],"driving":[244],"both":[245],"renal":[246],"extrarenal":[248],"manifestations,":[249],"explore":[251],"diagnostic":[252],"approaches":[253],"emerging":[255],"strategies":[256],"aimed":[257],"at":[258],"modifying":[259],"natural":[261],"course":[262]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2025-04-15T00:00:00"}
