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The protein encoded by TSPAN12 is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Zusätzlich bieten wir Ihnen TSPAN12 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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The novel variant p.Cys189Arg in TSPAN12 was not identified in the affected 14-year-old daughter. Thus, we conclude that the heterozygous FZD4 (zeige FZD4 Antikörper) missense variant c.349T>C most likely represents a causative dominant mutation in this family with FEVR (zeige NDP Antikörper).
Probands with LRP5 (zeige LRP5 Antikörper) or NDP (zeige NDP Antikörper) mutations were mainly categorized into group III and IV, TSPAN12 mutations were mainly observed in probands with group IV and V FEVR (zeige NDP Antikörper).
Among the detected mutations, LRP5 (zeige LRP5 Antikörper) accounted for the largest proportion with a mean mutation rate of 16.1% (5/31, 16.1%), followed by NDP (zeige NDP Antikörper) (3/31, 9.7%), FZD4 (zeige FZD4 Antikörper) (2/31, 6.5%), TSPAN12 (1/31, 3.2%), and KIF11 (zeige KIF11 Antikörper) (1/31, 3.2%). All the novel changes were predicted to be pathogenic by a series of bioinformatics analyses.
FEVR (zeige NDP Antikörper)-associated genes contributing to the disorder's autosomal dominant inheritance pattern in Korea, we determined that patients with TSPAN12 large deletions were more common than patients with single nucleotide variants in TSPAN12.
TSPAN12 promotes chemoresistance and proliferation of small cell lung carcinoma under the regulation of miR (zeige MLXIP Antikörper)-495.
Several novel mutations (missense, non-stop (zeige USP22 Antikörper) and insertion) were detected in the coding regions of FZD4 (zeige FZD4 Antikörper), TSPAN12 and ZNF408 (zeige ZNF408 Antikörper) genes among the unrelated vitreoretinopathy probands.The mutations in FZD4 (zeige FZD4 Antikörper) and TSPAN12 were involved in autosomal dominant and autosomal recessive families and further validates the involvement of these gene in familial exudative vitreoretinopathy development.
The authors report a case of familial exudative vitreoretinopathy in the spectrum of osteoporosis pseudoglioma syndrome associated with novel mutations of the LRP5 (zeige LRP5 Antikörper) and TSPAN12 genes that resulted in a phenotype similar to bilateral persistent fetal vasculature.
Among the patients with pathogenic mutations detected, FZD4 (zeige FZD4 Antikörper) mutations accounted for the largest proportion of autosomal inheritance FEVR (zeige NDP Antikörper) cases (13/18 patients, 72.2%), followed by LRP5 (zeige LRP5 Antikörper) (4/18 patients, 22.2%) and TSPAN12 (1/18 patients, 5.6%).
Here we describe a case of a female infant affected by cystic fibrosis (zeige S100A8 Antikörper) and by a severe form of exudative vitreoretinopathy. In particular, we have detected the homozygous missense mutation c.668 T > C in TSPAN12.
Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.
Data indicate that Norrin (zeige NDP Antikörper) multimers and TSPAN12 cooperatively promote multimerization of FZD4 (zeige FZD4 Antikörper) and its associated proteins to elicit physiological levels of signaling.
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility.
, transmembrane 4 superfamily member 12
, tetraspan NET-2