CELSR2 Antibody

1. Both CELSR2 and ING4 display increased cytoplasmic staining in breast cancer cells compared to benign epithelium, suggesting a possible role of both genes in the pathogenesis of human mammary neoplasia. PMID: 29489009
2. findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish-Danish population PMID: 29240829
3. we report bi-allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency. PMID: 28052552
4. no association was found between the SNPs of rs599839, rs464218 and rs6698843 at the CELSR2-PSRC1-SORT1 and the risk of coronary artery disease or ischemic stroke PMID: 26464717
5. CELSR2 in the cholesterol gene cluster shows a significant association with coronary artery disease and its single nucleotide polymorphism regulates plasma cholesterol levels. PMID: 24674750
6. The novel CAD-associated locus in the vicinity of the PSRC1 and CELSR2 genes on chromosome 1 probably enhances CAD risk through an effect on plasma LDL cholesterol. PMID: 18649068

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HGNC: 3231

OMIM: 604265

KEGG: hsa:1952

STRING: 9606.ENSP00000271332

UniGene: Hs.57652