LAMA1 Antibody

1. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics PMID: 28544784
2. LAMA1 SNP rs2089760 plays an important role in the development of PM. PMID: 26862816
3. LAMA1 deficiency can lead to alteration in cytoskeletal dynamics, which may invariably lead to alteration in dendrite growth and axonal formation. Patient-derived fibroblasts have impaired adhesion, reduced migration, abnormal morphology and increased apoptosis due to impaired activation of Cdc42, a member of the Rho family of GTPases that is involved in cytoskeletal dynamics. PMID: 27095636
4. Sixteen novel LAMA1 variants were identified in fourteen families with Poretti-Boltshauser syndrome. The frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. PMID: 26932191
5. Taken together, these findings suggest that miR-202 may function as a novel tumor suppressor in ESCC by repressing cell proliferation and migration, and its biological effects may attribute the inhibition of LAMA1-mediated FAK-PI3K-Akt signaling. PMID: 27045085
6. Laminins are involved in genetic and acquired bullous dermatoses, and collagenoses. PMID: 27464450
7. Studies of the hLM alpha-1N C49S mutant show that this mutation causes enhanced self-association behavior, which can explain the inability of laminin bearing this mutation to fulfill functional roles in vivo. PMID: 26215696
8. Our results indicate that invasion of cervical cancer is accomplished by the remodeling of the interstitial stroma, which process includes decrease and partial replacement of fibronectin and collagens by a laminin-rich matrix PMID: 25885552
9. Novel PMCA3 missense mutation co-occurring with a heterozygous mutation in LAMA1 impaired cellular Ca2+ homeostasis in patients with Cerebellar Ataxia. PMID: 25953895
10. skin-processed peptides play role in wound healing and antimicrobial response PMID: 24458132
11. Identification of biallelic mutations in LAMA1 as the cause of cerebellar dysplasia with cysts in seven affected individuals. PMID: 25105227
12. Studies indicate that progenitor endothelial cells (ECs), endothelial colony-forming cells (ECFCs), deposit collagen IV, fibronectin, and laminin. PMID: 22919069
13. miR-9 negatively controls lamin A and progerin expression in neural cells. PMID: 22840390
14. we report associations with the LAMA1 and HMG20A (not previously associated at genome-wide significance in Europeans) gene regions with type 2 diabetes risk PMID: 22693455
15. Laminin-alpha1 LG4-5 domain binding to dystroglycan mediates muscle cell survival, growth, and the AP-1 and NF-kappaB transcription factors but also has adverse effects. PMID: 22159078
16. The polymorphism of SNP rs2089760, located in the promoter region of LAMA1, may be associated with high myopia in the Chinese population. PMID: 21541277
17. c-Jun/AP-1 activity mediated by JNK, PI3K/Akt and ERK pathways is required for laminin-1-induced neurite outgrowth in human bone marrow mesenchymal stem cells. PMID: 21570970
18. Abnormal distribution of laminin alpha1 and laminin alpha5 in glomerular basement membrane is correlated with GBM thickening and splitting in human Alport's syndrome. PMID: 20019771
19. Observational study of gene-disease association. (HuGE Navigator) PMID: 19913121
20. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 20628086
21. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
22. Laminin-derived peptide AG73 regulates migration, invasion, and protease activity of human oral squamous cell carcinoma cells through syndecan-1 and beta1 integrin. PMID: 20237901
23. Exposure of cryptic domains in the alpha 1-chain of laminin-1 by elastase stimulates macrophages urokinase and matrix metalloproteinase-9 expression. PMID: 11827968
24. Alpha 1 laminin was heavily over-expressed in Alzheimer disease frontal cortex, and localized in reactive astrocytes of the grey and white matter, and as punctate deposits in the senile placques of the Alzheimer brain tissue. PMID: 12111806
25. Laminins with alpha1, alpha4, and alpha5 chains are compared to determine laminin isoform-specific promotion of adhesion and migration of human bone marrow progenitor cells. PMID: 12393739
26. mRNA encoding laminin-alpha1, -beta1, and -gamma1 chains was expressed in 90% of endometriotic lesions. PMID: 12615822
27. adhesion to laminin-1 through alpha6-integrin represents a protective mechanism for melanocytes to withstand UVB damage PMID: 15885076
28. analysis of structure and activities reveal differences in laminin G-like domain interactions that should enable dissection of biological roles of different laminin ligands PMID: 17307732
29. analysis of how distinct acidic clusters and hydrophobic residues in the alternative splice domains X1 and X2 of alpha7 integrins define specificity for laminin isoforms PMID: 17618648
30. Real-time PCR showed that ETOH significantly altered the expression of genes involved in cell adhesion. There was an increase in the expression of alpha and beta Laminins 1, beta Integrins 3 and 5, Secreted phosphoprotein1 and Sarcoglycan epsilon. PMID: 18162078
31. Subepicardial localization of CD117-positive cells and expression of laminin-1 and alpha(6) integrin subunits may all correspond to the activation of regeneration involving an epithelial-mesenchymal transition in adult heart PMID: 18436868
32. The laminin and laminin gene expression was higher in the aganglionic segment than in the dilated segment, and the expression decreased stepwisely from the aganglionic segment to the normal segment. PMID: 18661771
33. laminin-111 (alpha(1), beta(1), gamma(1)), which is expressed during embryonic development but absent in normal or dystrophic skeletal muscle, increased alpha(7)-integrin expression in mouse and DMD patient myoblasts PMID: 19416897
34. These results identify a previously undescribed role of carbohydrate-dependent cell-basement membrane interaction in tumor suppression and its control by beta3GnT1 and LARGE. PMID: 19587235
35. Promoter -1030C/T polymorphism of LMNA is a possible genetic predisposition to arterial stiffness in the Japanese population PMID: 19672032
36. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 18519826

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HGNC: 6481

OMIM: 150320

KEGG: hsa:284217

STRING: 9606.ENSP00000374309

UniGene: Hs.270364