CELSR1 Antibody

1. Patients with CELSR1 mutations and spina bifida can have significant renal malformations. PMID: 27597235
2. This single-nucleotide polymorphism-by-sex genome-wide association analysis identified the fetal lung development gene, CELSR1, as a potential sex-specific risk factor for Chronic obstructive pulmonary disease. PMID: 27854507
3. Upregulating CELSR1 expression significantly promoted cell growth, while knocking down CELSR1 inhibited the growth and decreased tube formation. PMID: 27301287
4. Single nucleotide polymorphisms in nNOS, renalase, MTHFR, CELSR1 and XYLB genes were found significantly associated with ischemic stroke in Chinese patients. PMID: 25855559
5. the present study has proven for the first time that CELSR1 is a susceptibility gene for ischaemic stroke in the Chinese Han population, especially for large artery atherosclerosis. PMID: 25117632
6. CELSR1 mutations contribute to the risk of spina bifida in a cohort of spina bifida patients from California PMID: 24632739
7. Celsr1 regulates dynamic cell movements by inhibiting stabilization of VE-cadherin and maturation of adherens junctions. PMID: 23792146
8. CELSR1 is a risk factor for neural tube defects or caudal agenesis via pathogenic role of planar cell polarity signaling in these malformations. PMID: 22371354
9. Missense variants in CELSR1 may represent a cause of craniorachischisis in humans, as in mice, with defective planar cell polarity protein trafficking to the plasma membrane a likely pathogenic mechanism. PMID: 22095531
10. CELSR1 may have a role in ischemic stroke, as shown in a Portuguese case-control cohort PMID: 21511255
11. The planar cell polarity genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis. PMID: 20223754
12. Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study. PMID: 19403135
13. exclusion as a candidate gene for schizophrenia-- a cadhrin gene PMID: 11807409
14. Variations in the nine ectodomains of CELSR1 do not increase susceptibility to schizophrenia. PMID: 12782967

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HGNC: 1850

OMIM: 182940

KEGG: hsa:9620

STRING: 9606.ENSP00000262738

UniGene: Hs.252387