Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.

Genes - 7 May 2024

Lujinschi Ștefan Nicolaie, Sorohan Bogdan Marian, Obrișcă Bogdan, Vrabie Alexandra, Lupușoru Gabriela, Achim Camelia, Andronesi Andreea Gabriella, Covic Andreea, Ismail Gener

Abstract excerpt

BACKGROUND: Alport syndrome (AS) is a common and heterogeneous genetic kidney disease, that often leads to end-stage kidney disease (ESKD). METHODS: This is a single-center, retrospective study that included 36 adults with type IV collagen (COL4) mutations. Our main scope was to describe how genetic features influence renal survival. RESULTS: A total of 24 different mutations were identified, of which eight had...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Connective tissue disorders research
Share to Autoantigens

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cell Adhesion Molecules Research

Share to Collagen Type IV

Share to Genetic Association Studies

Share to Kidney Failure, Chronic

Share to Mutation

Share to Nephritis, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 38790222
DOI: 10.3390/genes15050593
PMCID: PMC11121304

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.PMID 38790222Read ↗

Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.Semantic proximity Read ↗

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.Semantic proximity Read ↗

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.Semantic proximity Read ↗

Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for CliniciansSemantic proximity Read ↗

COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.Semantic proximity Read ↗

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.Semantic proximity Read ↗

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.Semantic proximity Read ↗

Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport SyndromeSemantic proximity Read ↗

The clinical spectrum of type IV collagen mutations.Semantic proximity Read ↗

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.Semantic proximity Read ↗

Heterozygous Pathogenic COL4A3 and COL4A4 Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular AbnormalitiesSemantic proximity Read ↗

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.