In our second study we found that heterozygous mutations in genes encoding β - myosin heavy chain (MYH7), α - cardiac actin (ACTC1), cardiac troponin T (TNNT2),
cardiac myosin - binding protein C (MYBPC3), and alpha - tropomyosin (TPM1) account for 30 % of cases of isolated LVNC in adult patients (Probst et al., 2011).
For example, clusters containing genes that are upregulated during the course of ES cell differentiation (Table 3) include in order of time of expression: cluster 30 that represents genes which take part in the formation of the three embryonic germ layers during gastrulation, i.e., Goosecoid, Cerberus like 1 homolog, Wnt3, Mesp1, Mixl1, mEomes and Even - skipped 1; cluster 15 containing molecular regulators of early mesoderm development including Bmp2, Bmp5, Msx1, Msx2, Cripto, Tbx20, Hey2, Smad6, Vegfr2 (Kdr), Foxf1 and Hand1; cluster 20, which comprises regulatory and structural genes linked to hemopoiesis such as Gata1, Nfe2, Klf1, Tie1, hemoglobins (Hba - x, Hbb - b1) and Glycophorin A; cluster 12, which is rich in genes involved in
cardiac development, e.g., Mef2c, Myl4,
cardiac Troponin T2, Tropomodulin 1,
myosin binding protein C, Bves, Angiopoietin 1 and Angiopoietin 2; and, cluster 4, which consists mostly of genes associated with neuronal development and differentiation, for example, Neurog1, Neurog2, Olig2, Nkx6.1, Neurod4, Pou3f2, Pou3f4, Cacna2d3, Cacng4, Kcnq2 and EphA5.
Proteins also play structural roles, as the contractile proteins actin and
myosin found in
cardiac, skeletal, and smooth muscle and as the fibrous proteins collagen, elastin, and keratin.