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Patients with CELSR1 mutations and spina bifida can have significant renal malformations.
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.
Upregulating CELSR1 expression significantly promoted cell growth, while knocking down CELSR1 inhibited the growth and decreased tube formation.
Single nucleotide polymorphisms in nNOS, renalase, MTHFR, CELSR1 and XYLB genes were found significantly associated with ischemic stroke in Chinese patients.
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.
CELSR1 mutations contribute to the risk of spina bifida in a cohort of spina bifida patients from California
Celsr1 regulates dynamic cell movements by inhibiting stabilization of VE-cadherin and maturation of adherens junctions.
CELSR1 is a risk factor for neural tube defects or caudal agenesis via pathogenic role of planar cell polarity signaling in these malformations.
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.
CELSR1 may have a role in ischemic stroke, as shown in a Portuguese case-control cohort
The planar cell polarity genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis.
Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study.
exclusion as a candidate gene for schizophrenia-- a cadhrin gene
Variations in the nine ectodomains of CELSR1 do not increase susceptibility to schizophrenia.
type II spiral ganglion neurons make a distinctive 90 degrees turn towards the cochlear base to synapse with 10-15 outer hair cells. this axon turning event requires planar cell polarity signaling and is disrupted in Vangl2 and Celsr1 knockout mice.
required for ureteric tree growth in early development
Planar cell polarity phenotype is the cellular basis of the circling behavior in Celsr1 mutants.
Celsr1 is required for the generation of polarity at multiple levels of the mouse oviduct.
the second signal, governed by Celsr1, Fzd3, and Vangl2, coordinates polarity between cells in both radial progenitors and ependymal cells (tissue polarity).
Data describe a novel distribution of Celsr1 protein to the basal surface of neuroepithelial cells within both the early neural tube and a less well-defined group of ventricular zone cells at the midline of the developing spinal cord.
Developmental expression profiles of Celsr (Flamingo) genes in the mouse
Differential expression of the seven-pass transmembrane cadherin genes Celsr1-3 and distribution of the Celsr2 protein during mouse development
Planar cell polarity cadherin Celsr1 regulates skin hair patterning in the mouse.
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins\; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis.
cadherin EGF LAG seven-pass G-type receptor 1
, cadherin family member 9
, cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)
, flamingo homolog 2
, protocadherin flamingo 2
, flamingo-like protein celsr1
, seven-pass transmembrane receptor