FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4292566574> ?p ?o ?g. }

• W4292566574 endingPage "4883" @default.
• W4292566574 startingPage "4883" @default.
• W4292566574 abstract "Alport syndrome (AS) is a clinically and genetically heterogeneous disorder with a wide phenotypic spectrum, onset, and progression. X-linked AS (XLAS) and autosomal recessive AS (ARAS) are severe conditions, whereas the severity of autosomal dominant AS (ADAS) may vary from benign familial hematuria to progressive renal disease with extra-renal manifestations. In this study, we collated information from the literature and analyzed a cohort of 317 patients with ADAS carrying heterozygous disease-causing mutations in COL4A3/4 including four patients from two unrelated families who carried two novel variants in COL4A3. Regarding the age of onset of the disease, 80% of patients presented urinalysis alterations (microhematuria, hematuria, and/or proteinuria) before the age of 40 years. The cumulative probability of suffering adverse renal events was mainly observed between 30 and 70 years, without statistical differences between COL4A3 and COL4A4. We observed statistically significant differences between the sexes in the age of developing ESKD in cases affected by mutations in COL4A3/4 (p value = 0.0097), suggesting that males begin experiencing earlier deterioration of renal function than women. This study supports the importance of follow-up in young patients who harbor pathogenic mutations in COL4A3/4. We update the knowledge of ADAS, highlighting differences in the progression of the disease between males and females." @default.
• W4292566574 created "2022-08-22" @default.
• W4292566574 creator A5010177467 @default.
• W4292566574 creator A5029377192 @default.
• W4292566574 creator A5032923173 @default.
• W4292566574 creator A5035872907 @default.
• W4292566574 creator A5047352888 @default.
• W4292566574 creator A5055305431 @default.
• W4292566574 creator A5084216575 @default.
• W4292566574 date "2022-08-19" @default.
• W4292566574 modified "2023-09-26" @default.
• W4292566574 title "New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3" @default.
• W4292566574 cites W1568637272 @default.
• W4292566574 cites W1588392179 @default.
• W4292566574 cites W1965375037 @default.
• W4292566574 cites W1979044332 @default.
• W4292566574 cites W1988470091 @default.
• W4292566574 cites W1989142233 @default.
• W4292566574 cites W1994600252 @default.
• W4292566574 cites W2002983130 @default.
• W4292566574 cites W2028369399 @default.
• W4292566574 cites W2033585771 @default.
• W4292566574 cites W2051978340 @default.
• W4292566574 cites W2062754358 @default.
• W4292566574 cites W2065013649 @default.
• W4292566574 cites W2078123453 @default.
• W4292566574 cites W2084341903 @default.
• W4292566574 cites W2096453305 @default.
• W4292566574 cites W2119619243 @default.
• W4292566574 cites W2138025953 @default.
• W4292566574 cites W2160163702 @default.
• W4292566574 cites W2259779968 @default.
• W4292566574 cites W2291059308 @default.
• W4292566574 cites W2417586610 @default.
• W4292566574 cites W2433698402 @default.
• W4292566574 cites W2565197937 @default.
• W4292566574 cites W2625709124 @default.
• W4292566574 cites W2736066470 @default.
• W4292566574 cites W2765945629 @default.
• W4292566574 cites W2888605992 @default.
• W4292566574 cites W2913060897 @default.
• W4292566574 cites W2953817789 @default.
• W4292566574 cites W2995883093 @default.
• W4292566574 cites W3006154805 @default.
• W4292566574 cites W3029661147 @default.
• W4292566574 cites W3044041980 @default.
• W4292566574 cites W3096553757 @default.
• W4292566574 cites W3126449372 @default.
• W4292566574 cites W3144992294 @default.
• W4292566574 cites W4200603878 @default.
• W4292566574 doi "https://doi.org/10.3390/jcm11164883" @default.
• W4292566574 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36013122" @default.
• W4292566574 hasPublicationYear "2022" @default.
• W4292566574 type Work @default.
• W4292566574 citedByCount "2" @default.
• W4292566574 countsByYear W42925665742023 @default.
• W4292566574 crossrefType "journal-article" @default.
• W4292566574 hasAuthorship W4292566574A5010177467 @default.
• W4292566574 hasAuthorship W4292566574A5029377192 @default.
• W4292566574 hasAuthorship W4292566574A5032923173 @default.
• W4292566574 hasAuthorship W4292566574A5035872907 @default.
• W4292566574 hasAuthorship W4292566574A5047352888 @default.
• W4292566574 hasAuthorship W4292566574A5055305431 @default.
• W4292566574 hasAuthorship W4292566574A5084216575 @default.
• W4292566574 hasBestOaLocation W42925665741 @default.
• W4292566574 hasConcept C126322002 @default.
• W4292566574 hasConcept C142724271 @default.
• W4292566574 hasConcept C159641895 @default.
• W4292566574 hasConcept C187212893 @default.
• W4292566574 hasConcept C2776908417 @default.
• W4292566574 hasConcept C2778653478 @default.
• W4292566574 hasConcept C2779134260 @default.
• W4292566574 hasConcept C2779561371 @default.
• W4292566574 hasConcept C2780091579 @default.
• W4292566574 hasConcept C2780368995 @default.
• W4292566574 hasConcept C2910809950 @default.
• W4292566574 hasConcept C71924100 @default.
• W4292566574 hasConcept C72563966 @default.
• W4292566574 hasConceptScore W4292566574C126322002 @default.
• W4292566574 hasConceptScore W4292566574C142724271 @default.
• W4292566574 hasConceptScore W4292566574C159641895 @default.
• W4292566574 hasConceptScore W4292566574C187212893 @default.
• W4292566574 hasConceptScore W4292566574C2776908417 @default.
• W4292566574 hasConceptScore W4292566574C2778653478 @default.
• W4292566574 hasConceptScore W4292566574C2779134260 @default.
• W4292566574 hasConceptScore W4292566574C2779561371 @default.
• W4292566574 hasConceptScore W4292566574C2780091579 @default.
• W4292566574 hasConceptScore W4292566574C2780368995 @default.
• W4292566574 hasConceptScore W4292566574C2910809950 @default.
• W4292566574 hasConceptScore W4292566574C71924100 @default.
• W4292566574 hasConceptScore W4292566574C72563966 @default.
• W4292566574 hasIssue "16" @default.
• W4292566574 hasLocation W42925665741 @default.
• W4292566574 hasLocation W42925665742 @default.
• W4292566574 hasLocation W42925665743 @default.
• W4292566574 hasLocation W42925665744 @default.
• W4292566574 hasOpenAccess W4292566574 @default.
• W4292566574 hasPrimaryLocation W42925665741 @default.

• next