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CRELD1 encodes a member of a subfamily of epidermal growth factor-related proteins.
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The CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients.
Germline mutations in the NKX2-5 (show NKX2-5 Proteins), GATA4 (show GATA4 Proteins), and CRELD1 genes do not appear to be associated with CHD (show CHDH Proteins) in Mexican DS patients.
Mutation of the CRELD1 gene increased the risk for atrioventricular septal defect.
we identified two CRELD1 haplotypes associated with AVSD phenotype among DS and euploid individuals.
study indicates that deleterious CRELD1 missense mutations are specifically associated with AVSD and are not correlated with other aspects of the heterotaxy phenotype
SNP c.985 C>T of CRELD1 is involved in causing congenital heart disease in patients of Mysore, South India.
CRELD1 is likely to be an AVSD-susceptibility gene and CRELD1 mutations may increase the risk of developing a heart defect (show Vcan Proteins) rather than being a direct causative mutation
CRELD1 could partly change the localization of RTN3 (show RTN3 Proteins) from the endoplasmic reticulum to the plasma membrane and modulate the apoptotic activity of RTN3 (show RTN3 Proteins) through binding with it.
Mutations in CRELD1,are infrequently found in patients with congenital cardiac septal defects
Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 (show NFATC1 Proteins) signaling.
This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.
cysteine-rich with EGF-like domains 1
, cysteine-rich with EGF-like domain protein 1-like
, cysteine-rich with EGF-like domain protein 1
, i11E7 protein