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Cysteine-rich with EGF-like domains 1

CRELD1, AVSD2
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.[provided by RefSeq, Apr 2010] (from NCBI)
Top mentioned proteins: GATA4, Chordin, Nkx2.5, CAN, Epidermal Growth Factor
Papers on CRELD1
Identification of Copy Number Variations in Isolated Tetralogy of Fallot.
New
Mutchinick et al., Mexico. In Pediatr Cardiol, Dec 2015
CNVs were studied using two multiplex ligation-dependent probe amplification (MLPA) kits, SALSA P250-B1(®) (DiGeorge gene region) and SALSA MLPA P311-A1(®) CHD-related gene regions (GATA4, NKX2-5, TBX5, BMP4, and CRELD1).
Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.
New
García-Díaz et al., Mexico. In Pediatr Cardiol, Apr 2015
Genetic variants have been implicated, including CRELD1 mutations, but no previous study has examined the candidate genes, NKX2-5 and GATA4, in DS patients with secundum atrial defects (ASDII) and ventricular septal defects (VSD).
[Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect].
Sun et al., Shanghai, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2014
OBJECTIVE: To screen potential mutation of the CRELD1 gene in congenital atrioventricular septal defect (AVSD) and explore its functional implications.
Clinical characteristics of pulmonary arterial hypertension associated with Down syndrome.
Review
Saji, Tokyo, Japan. In Pediatr Int, 2014
Few studies have examined the roles of CRELD1 and GATA4 in cardiac abnormalities or their association with pulmonary artery histopathology.
Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects.
Maslen et al., Portland, United States. In Aims Genet, 2013
Approximately 5-10% of simplex AVSD cases carry a missense mutation in CRELD1.
Genomic scan reveals loci under altitude adaptation in Tibetan and Dahe pigs.
Ma et al., Beijing, China. In Plos One, 2013
Totally, we identified 12 specific selective genes (CCBE1, F2RL1, AGGF1, ZFPM2, IL2, FGF5, PLA2G4A, ADAMTS9, NRBF2, JMJD1C, VEGFC and ADAM19) for TBP and six (OGG1, FOXM, FLT3, RTEL1, CRELD1 and RHOG) for DHP.
Hyperactivity of the Ero1α oxidase elicits endoplasmic reticulum stress but no broad antioxidant response.
Ellgaard et al., Copenhagen, Denmark. In J Biol Chem, 2012
Moreover, this analysis allowed the identification of two new targets of the mammalian UPR, CRELD1 and c18orf45.
Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.
Dey et al., Calcutta, India. In Am J Med Genet A, 2012
To explore the role of CRELD1 variants on congenital heart defects, we sequenced the entire reading frame of CRELD1 in the samples from Kolkata and adjoining areas.
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
Maslen et al., Portland, United States. In Am J Hum Genet, 2012
The variants with the highest probability of being damaging in cases only were found in six genes: COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5.
Microdeletion on 3p25 in a patient with features of 3p deletion syndrome.
Armour et al., Kingston, Canada. In Am J Med Genet A, 2012
The putative functions of several genes, such as CRELD1, SRGAP3, CAMK1, TADA3, and MTMR14 are discussed with respect to their potential involvement in the 3p deletion syndrome phenotype.
Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.
GeneRIF
Maslen et al., Portland, United States. In Am J Med Genet A, 2012
study indicates that deleterious CRELD1 missense mutations are specifically associated with AVSD and are not correlated with other aspects of the heterotaxy phenotype
Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.
Reeves et al., Baltimore, United States. In Circ Cardiovasc Genet, 2012
METHODS AND RESULTS: We ascertained a group of individuals with DS and complete atrioventricular septal defect and sequenced 2 candidate genes for CHD: CRELD1, which is associated with atrioventricular septal defect in people with or without DS, and HEY2, whose mouse ortholog (Hey2) produces septal defects when mutated.
A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.
GeneRIF
Ramachandra et al., Mysore, India. In Genet Test Mol Biomarkers, 2011
SNP c.985 C>T of CRELD1 is involved in causing congenital heart disease in patients of Mysore, South India.
Novel virtual cytological analysis for the detection of endometrial cancer cells using autoscan fluoromicroscopy.
Matsumura et al., Kashiwa, Japan. In Cancer Sci, 2011
Twenty-two of 28 endometrial cancer tissues (79%) were positive with four mAb sets, CRELD1, GRK5, SLC25A27 and STC2, and 22 of 22 normal endometriums (100%) were negative.
Novel CRELD1 gene mutations in patients with atrioventricular septal defect.
GeneRIF
Sun et al., Shanghai, China. In World J Pediatr, 2010
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
RTN3 inducing apoptosis is modulated by an adhesion protein CRELD1.
GeneRIF
Zhao et al., Changsha, China. In Mol Cell Biochem, 2009
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.
Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.
GeneRIF
Berger et al., Berlin, Germany. In Am J Med Genet A, 2008
Mutations in CRELD1,are infrequently found in patients with congenital cardiac septal defects
Molecular genetics of atrioventricular septal defects.
Review
Maslen, Portland, United States. In Curr Opin Cardiol, 2004
Mutation of CRELD1 increases susceptibility to AVSD but is not alone sufficient to cause the defect, indicating that AVSD is multigenic.
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