Fig 1: The analysis of iPSC-derived CMs indicated an ARVC-associated phenotype. (A) Histogram of KEGG signaling pathway classification. (B) KEGG enrichment analysis of the adherent signaling pathway. (C) Western blot results showed the protein expressions of LAMA2, CTCF, Integrin-β1, β-Dystroglycan, FABP4, and Adiponectin in myocardium cells of the control group and the ARVC group, with GAPDH as internal reference. (D) Histogram shows the protein expression differences of LAMA2, CTCF, Integrin-β1, β-Dystroglycan, FABP4, and Adiponectin between the control group and the ARVC group (N.S. The difference is meaningless; *p < 0.05; **p < 0.01; ***p < 0.001).
Fig 2: The effects of LAMA2 c.8842G > A mutation on the molecular structure of the protein. (A) Individual crystal structures of wild type and G2948S according to the 1okq.1.A model template. (B) Ramachandran plots of amino acid with wild type and p.G2948A. (C) The comparisons of free energy on crystal structure of the wild type sequence and the p.G2948A variant. (D) The structural changes due to the mutation of LAMA2 G2948S.
Fig 3: Information of LAMA2 c.8842G > A in the family of the proband. (A) Family map of gene mutation. (B) Sequencing of mutations. Blue arrow: The normal group showed single peak of base G, while the patient showed heterozygous state of base G peak and A peak.
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