Recombinant Human Laminin subunit alpha-2 (LAMA2), partial

1. The LAMA2 Mutation Congenital Muscular Dystrophy showed demyelinating polyneuropathy white matter changes on brain. PMID: 29465610
2. It was established that the frequency of individuals with the COL13A1*D/*D genotype was higher in the senile age period. The LAMA2*I/*D genotype was predisposing to longevity among women. PMID: 29369589
3. Using high-throughput technology identify LAMA-2 as a candidate medullary sponge kidney disease biomarker possibly employable in future for the early diagnosis of this disease. PMID: 27914711
4. Differential protein expression of collagen IV, laminin alpha2, and nidogen-1 indicated basal lamina remodeling develops in ischemic failing versus nonfailing human hearts. PMID: 26756417
5. Next generation sequencing was found to be useful for molecular diagnosis of a confirmed case of merosin deficient congenital muscular dystrophy. PMID: 26104111
6. did not find positive association signals of the four single nucleotide polymorphisms in the LAMA2 and EGR1 genes with high myopia PMID: 26984843
7. By analyzing the gene test we found that compound heterozygous LAMA2 mutation inherited from the parents. One coming from the father was a gross deletion expanding from exon 36 to exon 65. The from the mother was a missense mutation c.1358G>C PMID: 26304763
8. This report widens the clinical spectrum of cerebral manifestations related with mutations in LAMA2 PMID: 25500573
9. Data showed miR-29a/c as novel regulators of LAMA2 in ependymoma based on miRNA-mRNA covariation and sequence-based target predictions. PMID: 25958202
10. This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature. PMID: 25663498
11. Crystal structure of LAMM L4 domain PMID: 25962468
12. Data find high frequency mutations in LAMA2 protein in hepatocellular carcinoma (HCC) patients. Its lower expression levels correlate with tumor progression, poor survival and higher chance of cancer recurrence. PMID: 25159915
13. Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line. PMID: 24804215
14. 2 patients with partial laminin-alpha2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement and second with cardiac dysfunction, rigid spine syndrome and limb-girdle weakness; both have 2 heterozygous LAMA2 variants sharing a potentially pathogenic missense mutation c.2461A>C located in exon 18 PMID: 24534542
15. Genetic association studies identified two pathogenic mutations in the LAMA2 gene in patients with congenital muscular dystrophy. PMID: 24225367
16. Homozygous truncating mutations in POMK lead to congenital muscular dystrophies with secondary merosin deficiency, hypomyelination and intellectual disability. PMID: 24556084
17. children with LAMA2 congenital muscular dystrophy may be at nogreater risk of developing malignant hyperthermia than the general population PMID: 24628934
18. Identification of cell adhesive sequences in the N-terminal region of the laminin alpha2 chain. PMID: 22654118
19. Aberrant methylation at target CpG sites in GABRA1 and LAMA2 was observed with high frequency in tumor tissues. PMID: 22038115
20. This largest series of patients with limb-girdle muscular dystrophy due to laminin alpha2-deficiency expands the clinical phenotype associated with LAMA2 mutations. PMID: 21953594
21. This is the first report to describe dilated cardiomyopathy with conduction defects and merosin deficiency in a patient carrying LAMA2 gene mutations. PMID: 22006699
22. A single base deletion at position 8005 in the LAMA2 gene is associated with a severe form of classical congenital muscular dystrophy and partial merosin deficiency in congenital muscular dystrophy type 1A. PMID: 20477750
23. LAMA2 mutations were found in three different Russian families with congenital muscular dystrophy. PMID: 20607928
24. This large study identified novel LAMA2 mutations and highlights the role of immunohistochemical studies for merosin status in predicting clinical severity of MDC1A. PMID: 20207543
25. Data show that the expression of collagen types I, III and fibronectin was significantly higher in pancreatic cancer, and the expression of collagen type IV, laminin and vitronectin was significantly lower in pancreatic cancer. PMID: 19893454
26. Ku70 is a regulator of Bax-mediated pathogenesis in laminin-alpha2-deficiency muscle cells. PMID: 19692349
27. case series and review of laminin alpha2(merosin) deficiency phenotypes and abnormalities PMID: 11584042
28. A number of mutations are identified in association with congenital muscular dystrophies. PMID: 11938437
29. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2 locus in three Tunisian patients. PMID: 12467726
30. In nine congenital muscular dystrophy patients with abnormal white-matter signal at brain MRI and partial deficiency of muscle laminin alpha 2, three novel missense and two splice-site mutations were found. PMID: 12552556
31. However, dy(W)/dy(W) mice, expressing the human laminin alpha2 under the control of the striated muscle-specific portion of the desmin promoter, still developed muscular dystrophy. PMID: 12609502
32. A mild case of autosomal recessive congenital muscular dystrophy is associated with a homozygous out-of-frame deletion in exon 56 of the LAMA2 gene. PMID: 15452315
33. DNA analysis can be used to provide accurate prenatal diagnosis of thecongenital muscular dystrophy, and have an essential role in genetic counseling. PMID: 16084089
34. identified 9 new LAMA 2 mutations PMID: 16216942
35. A relocalization of LAMA2 was noted in the subepithelial basement membrane in a group of Hirschsprung patients. PMID: 16226104
36. suggest that LNalpha1 chain in part ameliorates the development of LNalpha2 chain deficient muscular dystrophy by retaining the binding sites for integrin alpha7Bbeta1D and alpha-dystroglycan, respectively PMID: 16504180
37. Study summarizes recent progress concerning the molecular mechanisms of laminins in development and disease. PMID: 17426950
38. intron mutation is responsible for complete exon 17 skipping in severe congenital muscular dystrophy PMID: 18053718
39. the first fully characterized gross deletion in the LAMA2 gene, encompassing exon 56 (c.7750-1713_7899-2153del), detected in 31% of congenital muscular dystrophy type 1A patients PMID: 18700894
40. In patient 1, a double mutation, c.[9101_9104dupAACA:3412G>A] p.[H3035QfsX4:V1138M] was detected, Patient 2 had a novel homozygous nonsense mutation, c.2907C>A (p.Cys969X), in exon 21. PMID: 19294599
41. Crystal structure shows that the three LG domains adopt typical beta-sandwich folds, with canonical calcium binding sites in LG1 and LG2. LG2 and LG3 interact through a substantial interface, but LG1 is completely dissociated from the LG2-3 pair. PMID: 19553699

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HGNC: 6482

OMIM: 156225

KEGG: hsa:3908

STRING: 9606.ENSP00000400365

UniGene: Hs.200841