ReviewHuman mutation2010
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Review in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 122 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
122 citing papers in PubMed, 200 citations in OpenAlex.
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Review
- Pierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: a case report.CEN case reports · 2026Article
- Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.Kidney international reports · 2026Article
- Review
- How does LAMB2 contribute to kidney disease? Insights from a pediatric case.BMC nephrology · 2025Article
- The Life of a Kidney Podocyte.Acta physiologica (Oxford, England) · 2025Review
- Differences in kidney prognosis between congenital and infantile nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- Article
- Machine learning model base on metabolomics and proteomics to predict cognitive impairment in Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Laminin Beta 2 Is Localized at the Sites of Blood-Brain Barrier and Its Disruption Is Associated With Increased Vascular Permeability, Histochemical, and Transcriptomic Study.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2024Article
- LAMB2 gene: broad clinical spectrum in Pierson syndrome.CEN case reports · 2024Article
- A Machine Learning Model for the Prediction of COVID-19 Severity Using RNA-Seq, Clinical, and Co-Morbidity Data.Diagnostics (Basel, Switzerland) · 2024Article
- Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?Pediatric nephrology (Berlin, Germany) · 2024Review
- Novel NUP93 Gene Variant and Diffuse Mesangial Sclerosis in Steroid Resistant Nephrotic Syndrome.Indian journal of pediatrics · 2024Article
- Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease.Arthritis & rheumatology (Hoboken, N.J.) · 2024Article
- Collagen IV of basement membranes: II. Emergence of collagen IVThe Journal of biological chemistry · 2023Article
- Artificial intelligence and the analysis of cryo-EM data provide structural insight into the molecular mechanisms underlying LN-lamininopathies.Scientific reports · 2023Article
- Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.Molecular genetics & genomic medicine · 2023Article
- Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation inKidney international reports · 2023Article
- High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis.Biomedicines · 2023Article
62 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
38 authors at 20 institutions in 17 countries.
Funding
Abstract
Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic abnormalities, but may occasionally be associated with milder or oligosymptomatic disease variants. LAMB2 encodes the basement membrane protein laminin beta2, which is incorporated in specific heterotrimeric laminin isoforms and has an expression pattern corresponding to the pattern of organ manifestations in Pierson syndrome. Herein we review all previously reported and several novel LAMB2 mutations in relation to the associated phenotype in patients from 39 unrelated families. The majority of disease-causing LAMB2 mutations are truncating, consistent with the hypothesis that loss of laminin beta2 function is the molecular basis of Pierson syndrome. Although truncating mutations are distributed across the entire gene, missense mutations are clearly clustered in the N-terminal LN domain, which is important for intermolecular interactions. There is an association of missense mutations and small in frame deletions with a higher mean age at onset of renal disease and with absence of neurologic abnormalities, thus suggesting that at least some of these may represent hypomorphic alleles. Nevertheless, genotype alone does not appear to explain the full range of clinical variability, and therefore hitherto unidentified modifiers are likely to exist.
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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.