Cysteine-Rich with EGF-Like Domains 1 Proteins (CRELD1)

Human Cysteine-Rich with EGF-Like Domains 1 (CRELD1) interaction partners

1. The CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients.

2. Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients.

3. Mutation of the CRELD1 gene increased the risk for atrioventricular septal defect.

4. we identified two CRELD1 haplotypes associated with AVSD phenotype among DS and euploid individuals.

5. study indicates that deleterious CRELD1 missense mutations are specifically associated with AVSD and are not correlated with other aspects of the heterotaxy phenotype

6. SNP c.985 C>T of CRELD1 is involved in causing congenital heart disease in patients of Mysore, South India.

7. CRELD1 is likely to be an AVSD-susceptibility gene and CRELD1 mutations may increase the risk of developing a heart defect rather than being a direct causative mutation

8. CRELD1 could partly change the localization of RTN3 from the endoplasmic reticulum to the plasma membrane and modulate the apoptotic activity of RTN3 through binding with it.

9. Missense mutations in this protein are associated with cardiac atrioventricular septal defects.

10. Mutations in CRELD1,are infrequently found in patients with congenital cardiac septal defects

Mouse (Murine) Cysteine-Rich with EGF-Like Domains 1 (CRELD1) interaction partners

1. Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 signaling.