Recombinant Human Laminin subunit beta-2 (LAMB2), partial

1. In conclusion, we reported three Chinese cases with different LAMB2 mutations and different phenotypes, further broadening the range of eye and kidney pathology associated with mutations in LAMB2. PMID: 27925579
2. No pathogenic LAMB2 mutations were found in the cohort of children with steroid-resistant focal segmental glomerulosclerosis. PMID: 24856380
3. Comprehensive gene sequencing revealed a novel LAMB2 variant (c.440A --> G; His147R) that was homozygous in the 9 living, affected family members, observed at a frequency of 2.1% in the Old Order Mennonite population, and absent in 91 non-Mennonite controls PMID: 21236492
4. Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children were detected in LAMB2. PMID: 21125408
5. All previously reported and several novel LAMB2 mutations in relation to the associated phenotype in patients from 39 unrelated families, are reviewed. PMID: 20556798
6. Deficiency in LAMB2 causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. PMID: 15367484
7. Hepalaminin, an autoantigen from chronic hepatitis C, consists of two domains of laminin beta-2 and a specific domain. PMID: 15603881
8. Mutations in the LAMB2 gene encoding laminin beta2, a component of the glomerular basement membrane and the neuro-muscular junction are responsible for the characteristic renal and eye abnormalities of Pierson syndrome. PMID: 16898484
9. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. PMID: 16912710
10. LAMB2 has to be considered as culprit of milder disorders including nephrosis and variable ocular anomalies. PMID: 16921188
11. We demonstrated that overabundance of the beta2 chain of laminin is associated with increased basement membrane thickness and is possibly related to spermatogenic dysfunction PMID: 17804866
12. Milder phenotypes of Pearson Syndrome may be related to hypomorphic LAMB2 alleles. PMID: 17943323
13. Pierson syndrome is defined by the association of mental retardation, microcoria and DMS caused by mutation in LAMB2 gene PMID: 18065803
14. Study excluded LAMB2 as a candidate gene for Galloway-Mowat syndrome. PMID: 18594871
15. Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta2 in eye development. PMID: 18672223

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HGNC: 6487

OMIM: 150325

KEGG: hsa:3913

STRING: 9606.ENSP00000307156

UniGene: Hs.439726