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two WISP3 mutations have been identified in two affected siblings by targeted NGS, thus permitting the clinical diagnosis of PPD (zeige HPD Proteine). This case supports the utility of NGS in the genetic characterization of skeletal dysplasias, which in turn may aid their clinical care, permit predictive screening, and to provide genetic counselling to families.
CCN6 acts as a molecular brake, which is appropriately balanced by Nrf2 (zeige GABPA Proteine), in regulating mitochondrial function.
Studies indicate that the CYR61 (zeige CYR61 Proteine) CTGF (zeige CTGF Proteine) NOV (zeige NOV Proteine) matricellular proteins (CCN family of proteins) comprises the members CCN1 (zeige CCNA2 Proteine), CCN2 (zeige CTGF Proteine), CCN3 (zeige NOV Proteine), CCN4 (zeige WISP1 Proteine), CCN5 (zeige WISP2 Proteine) and CCN6 and have been identified in various types of cancer.
WISP3 harbored not only frameshift mutation but also mutational intratumoral heterogeneity and loss of expression, which together might play a role in tumorigenesis of GC and CRC (zeige CALR Proteine) with MSI (zeige MSI1 Proteine)-H by inhibiting tumor suppressor functions of WISP3.
WISP3 variant leads to the diagnosis of SEDT (zeige TRAPPC2 Proteine)-PA.
Novel and recurrent mutations in WISP3 and an atypical phenotype have been described in Indian families with progressive pseudorheumatoid dysplasia.
A novel mutation c.667T>G (p.Cys223Gly) and the c.857C>G (p.Ser286*) mutation were detected in three Chinese patients with PPD (zeige HPD Proteine).
This study identified 3 different WISP3 mutations in 2 unrelated Chinese families with spondyloepiphyseal dysplasia tarda with progressive arthropathy.
Suggest WISP3-Wnt (zeige WNT2 Proteine)/beta-catenin (zeige CTNNB1 Proteine) axis may have role in regulating gastric cancer cell proliferation and metastasis.
Novel C223G and C252X mutations in exon 4 of the WISP3 gene are responsible for progressive pseudorheumatoid dysplasia in Chinese patients.
demonstrated that CCN6 induced the proliferation of lung fibroblasts by binding to integrin beta1, leading to the phosphorylation of FAK (zeige PTK2 Proteine)(Y397).
the WISP3 gene is essential to skeletal growth or homeostasis in humans but not in mice [WISP3]
One paralog of mammalian wisp3 was found in zebrafish.
Overexpression of zebrafish Wisp3 protein inhibited bone morphogenetic protein (BMP) and Wnt signaling in developing zebrafish.
This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene.
CCN family member 6
, WNT1-inducible-signaling pathway protein 3
, WNT1 inducible signaling pathway protein 3
, WNT1-inducible-signaling pathway protein 3-like