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The protein encoded by TSPAN12 is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. 再加上，我们可以发TSPAN12 蛋白 (3)和数多这个蛋白质的别的产品。
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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 (显示 FZD4 抗体) missense variant c.349T>C most likely represents a causative dominant mutation in this family with FEVR (显示 NDP 抗体).
Probands with LRP5 (显示 LRP5 抗体) or NDP (显示 NDP 抗体) mutations were mainly categorized into group III and IV, TSPAN12 mutations were mainly observed in probands with group IV and V FEVR (显示 NDP 抗体).
Among the detected mutations, LRP5 (显示 LRP5 抗体) accounted for the largest proportion with a mean mutation rate of 16.1% (5/31, 16.1%), followed by NDP (显示 NDP 抗体) (3/31, 9.7%), FZD4 (显示 FZD4 抗体) (2/31, 6.5%), TSPAN12 (1/31, 3.2%), and KIF11 (显示 KIF11 抗体) (1/31, 3.2%). All the novel changes were predicted to be pathogenic by a series of bioinformatics analyses.
FEVR (显示 NDP 抗体)-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 (显示 MLXIP 抗体)-495.
Several novel mutations (missense, non-stop (显示 USP22 抗体) and insertion) were detected in the coding regions of FZD4 (显示 FZD4 抗体), TSPAN12 and ZNF408 (显示 ZNF408 抗体) genes among the unrelated vitreoretinopathy probands.The mutations in FZD4 (显示 FZD4 抗体) 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 (显示 LRP5 抗体) and TSPAN12 genes that resulted in a phenotype similar to bilateral persistent fetal vasculature.
Among the patients with pathogenic mutations detected, FZD4 (显示 FZD4 抗体) mutations accounted for the largest proportion of autosomal inheritance FEVR (显示 NDP 抗体) cases (13/18 patients, 72.2%), followed by LRP5 (显示 LRP5 抗体) (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 (显示 S100A8 抗体) 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 (显示 NDP 抗体) multimers and TSPAN12 cooperatively promote multimerization of FZD4 (显示 FZD4 抗体) 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