ArticleKidney international2014
Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome.
Article in Kidney international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 49 citations in OpenAlex.
- Exome Sequencing in Patients with Loin Pain Hematuria Syndrome and Persistent Isolated Hematuria.Kidney international reports · 2026Article
- Pathogenic variants in COL4A3, COL4A4, JAG1, and NPHS2 genes in focal segmental glomerulosclerosis: Insights from targeted gene panel sequencing.Molecular genetics and metabolism reports · 2026Article
- A dual-organ genetic interplay between sensorineural hearing loss and kidney disease: an update for clinicians.Pediatric nephrology (Berlin, Germany) · 2026Review
- An Alport variant illuminates the bioactivity of the collagen IVbioRxiv : the preprint server for biology · 2026Article
- Case Report: Whole genome sequencing identifies a novel deep intronicFrontiers in pediatrics · 2025Article
- Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.BMC medical genomics · 2024Article
- Explaining Alport syndrome-lessons from the adult nephrology clinic.Journal of rare diseases (Berlin, Germany) · 2024Review
- Article
- Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population.Biomolecules & biomedicine · 2023Article
- Finerenone and other future therapeutic options for Alport syndrome.Journal of rare diseases (Berlin, Germany) · 2023Review
- Approach to genetic testing to optimize the safety of living donor transplantation in Alport syndrome spectrum.Pediatric nephrology (Berlin, Germany) · 2022Review
- Evaluation of Genetic Kidney Diseases in Living Donor Kidney Transplantation: Towards Precision Genomic Medicine in Donor Risk Assessment.Current transplantation reports · 2022Article
- The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD.Kidney360 · 2022Article
- Synaptopodin deficiency exacerbates kidney disease in a mouse model of Alport syndrome.American journal of physiology. Renal physiology · 2021Article
- Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series.Croatian medical journal · 2021Article
- Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused byClinical kidney journal · 2020Article
- Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.Pediatric nephrology (Berlin, Germany) · 2020Review
- Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family.Molecular genetics and genomics : MGG · 2020Article
- Type IV collagen and diabetic kidney disease.Nature reviews. Nephrology · 2020Article
- Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background.Scientific reports · 2019Article
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1 author at 1 institution in 1 country.
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Abstract
Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. These data show that a subset of renal manifestations associated with COL4A3 or COL4A4 variants cannot be distinguished from FSGS by clinical data or histopathology. Thus, a diagnosis of FSGS may sometimes fall within the spectrum of Alport syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.