Anti - Mouse, E-cadherin Clone GM016
- Known as:
- Anti - Mouse, E-cadherin Clone GM016
- Catalog number:
- 60-0028
- Product Quantity:
- 6 mL
- Category:
- -
- Supplier:
- Genemed
- Gene target:
- Anti - Mouse E-cadherin Clone GM016
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Related articles to: Anti - Mouse, E-cadherin Clone GM016
- Protocadherin-12 (PCDH12), a cell-adhesion protein belonging to the non-clustered protocadherin family, plays a crucial role in the establishment and regulation of neuronal connections and communication. Bi-allelic loss-of-function (LoF) variants in the gene have been associated with several neurodevelopmental disorders (NDDs) such as diencephalic-mesencephalic junction dysplasia syndrome, cerebral palsy, and cerebellar ataxia, often accompanied by ocular abnormalities. However, genotypes exhibit variable expressivity. Affected individuals sharing the same variant presenting differing phenotypic severities have posed major challenges towards identification of the underlying pathogenic mechanisms. Here, we report three affected individuals from two families, each harbouring non-truncating pathogenic missense variants in . The patients are compound heterozygous, with each individual carrying one extracellular [c.1742T>G (p.Val581Gly) and c.1861_2del/insCA (p.Ile621His)] and one intracellular variant [c.3370C>T (p.Arg1124Cys) and c.3445G>A (p.Asp1149Asn] on each allele. The children present with a range of phenotypes similar to those associated with LoF variants. One child exhibited microcephaly and seizures, while the two siblings displayed developmental delays and severe behavioral disorders. All three children experienced some degree of visual impairment. The missense variants provided new insights into the neurodevelopmental consequences of compromised function by distinguishing the specific consequences associated with dysfunction in the extracellular versus intracellular domains of PCDH12. All identified missense variants are predicted to be deleterious and destabilizing. The expression of PCDH12 in HEK293T and HeLa cells demonstrated that PCDH12 is expressed effectively, regardless of the presence of missense variants. However, the extracellular variants p.Val581Gly and p.Ile621His compromised the stability of PCDH12's homophilic adhesion. Additionally, we found evidence of an interaction between PCDH12 and the extracellular domain of the epilepsy-associated PCDH19 protein. PCDH12 extracellular missense variants also affect PCDH19 stability. Our study provides evidence that PCDH12 mediates both homophilic and heterophilic interactions. Our findings also highlight the importance of stable PCDH12-mediated adhesion, emphasizing the need to further study the functional consequences of missense variants on brain and visual system development. - Source: PubMed
Publication date: 2026/03/06
Rakotomamonjy JenniferFares-Taie LucasKumar RamanGebert ColeMagaña-Hernandez LauraBlaszkiewicz AnnaBenson TheresaFairbanks-Santana MartínTrejo AngelaRogers R CurtisMayer ClaudineChennen KirsleyPoch OlivierBardakjian Tanya MTropea Thomas FGonzalez-Alegre PedroCarvill Gemma LZhang JamieAgarwala ShreyaJolly Lachlan AVan Bergen Nicole JBalasubramaniam ShantiEllaway Carolyn JChristodoulou JohnGecz JozefRozet Jean-MichelGuemez-Gamboa Alicia - Cannabis use during pregnancy continues to increase with smoking remaining the most common mode of consumption. While clinical studies highlight an association between prenatal cannabis use and adverse pregnancy outcomes, less is known about placental outcomes, even though many of the reported pregnancy outcomes are thought to be mediated via placental dysfunction. Here, we established a mouse model of gestational cannabis smoke exposure to investigate the impacts on fetal outcomes and placental structure and function. Pregnant CD1 mice were exposed daily to Δ9-tetrahydrocannabinol (THC)-dominant cannabis smoke (12-14% THC, 0-2% CBD) or filtered air from embryonic day (E)6.5 to E18.5 or parturition. Cannabinoid analyses in cannabis smoke-exposed, paired maternal and fetal livers revealed total THC and 11-Nor-9-carboxy-THC (THCA) concentrations of 135.95 ± 13.60 ng/g and 30.84 ± 4.68 ng/g, respectively. Moreover, Cyp1a1, a smoke-inducible enzyme, was induced by 4-fold in cannabis smoke-exposed placentae. No changes in offspring body weights were observed; however, there was a marked decrease in the brain-to-body weight ratio of exposed postnatal day 1 (PND1) offspring. Placentae from exposed dams were significantly reduced in size, with altered zonation marked by a significantly decreased junctional zone and increased labyrinth zone. Key trophoblast differentiation markers (Tfap2c, Tpbpa, Pcdh12) and placental endocrine regulators (Pl2, Igf1r) were significantly downregulated following cannabis smoke exposure in placentas. Furthermore, transcript levels of placental nutrient and vascularization markers, Glut1, Vegfa and Pparg were significantly decreased in cannabis smoke-exposed placentas. By employing a physiologically relevant platform of prenatal cannabis exposure in vivo we demonstrate the adverse effects of prenatal cannabis smoke exposure on placental structure and function as well as on fetal brain growth. - Source: PubMed
Publication date: 2026/03/16
Podinic TinaSunil MariaMacAndrew AndieMonaco CristinaLee GraceLockington CiellePetrik JimLucas Amica-MariaTomy ThaneTomy GreggKasinska JoannaJamshed LaibaHolloway Alison CRatcliffe Elyanne MRaha Sandeep - Objective To explore the clinical significance of roundabout guidance receptor 4(ROBO4) and protocadherin 12(PCDH12) in the human serum in the screening,diagnosis,and staging of colorectal cancer(CRC) through proteomics and bioinformatics,thus providing a novel screening method with high specificity,sensitivity,and accuracy for the early screening and diagnosis of CRC in clinical practice. Methods Proteomics and bioinformatics approaches were employed to select the target proteins ROBO4 and PCDH12,and the correlation between ROBO4 and PCDH12 was analyzed.A total of 121 CRC patients(cancer group),112 patients with polyps(polyp group),and 108 healthy volunteers(normal group) who received treatment or physical examination from January 2023 to June 2024 were enrolled in this study.ELISA was employed to determine the expression levels of ROBO4,PCDH12,carcinoembryonic antigen(CEA),and carbohydrate antigen 199(CA199) in the samples of each group.The expression levels of the four proteins in the serum were compared among the three groups of patients mentioned above,and the relationships of the serum levels of ROBO4 and PCDH12 with the pathological characteristics of the CRC patients were analyzed.Furthermore,the receiver operating characteristic(ROC) curves were established to evaluate the diagnostic efficacy of the serum levels of ROBO4 and PCDH12 for CRC patients in early and progressive stages. Results The target proteins ROBO4 and PCDH12 were screened out through proteomics.Bioinformatics analysis showed that ROBO4 and PCDH12 were highly expressed in CRC patients.Further correlation analysis revealed a positive correlation between ROBO4 and PCDH12 in CRC(=0.870,<0.001).The ELISA results of clinical samples showed that compared with the normal group and polyp group,the cancer group presented elevated expression levels of ROBO4 and PCDH12(all <0.001).There was no statistically significant difference in the expression level of ROBO4 or PCDH12 between the normal group and the polyp group(=0.586,=0.550).The ROC curves showed that the diagnostic efficacy of ROBO4,PCDH12,and ROBO4+PCDH12 was 0.787,0.757,and 0.812,respectively,all of which were higher than the diagnostic efficacy of CEA and CA199.Further analysis of serum levels of ROBO4 and PCDH12 with the pathological data of CRC showed that the serum level of ROBO4 was correlated with differentiation degree(=0.013),pathological stage(=0.002),lymph node metastasis(=0.001),and distant metastasis(=0.026).The serum level of PCDH12 was correlated with differentiation degree(=0.043),pathological stage(=0.012),and lymph node metastasis(=0.001).The ROC curves showed that the diagnostic efficacy of ROBO4,PCDH12,and ROBO4+PCDH12 was 0.637,0.758,and 0.787 for early CRC and 0.872,0.757,and 0.882 for progressive CRC,respectively. Conclusions The serum levels of ROBO4 and PCDH12 demonstrate high diagnostic efficacy for CRC patients and are correlated with the pathological features of CRC.The two proteins are expected to be novel serum biomarkers for the diagnosis and screening of CRC. - Source: PubMed
Fan Jian-ChunCao Xin-RanYang Chun-Bai-XueZhang BinZhang Yi-XuanXia LeiWu Xue-Liang - Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease in which endothelial cell senescence (ECS) plays a key role. By integrating two GEO transcriptome datasets (145 IPF patients and 84 controls) and applying LASSO, SVM-RFE, and Boruta algorithms, four key ECS-related genes (ECSRGs), MYCT1, PLEKHA1, PCDH12, and PLXND1, were identified. MYCT1 and PLEKHA1 were downregulated by about 26% and 75%, while PCDH12 and PLXND1 were upregulated by 2.4- and 1.9-fold (p < 0.0001). The four-gene nomogram achieved 93.6% diagnostic accuracy. In TGF-β1-induced HUVECs, silencing MYCT1 or PLEKHA1 increased senescent cells by ~1.4-fold, whereas silencing PCDH12 or PLXND1 reduced α-SMA and COL1A1 levels by ~40%. In bleomycin-induced mice, valproic acid (VPA) lowered collagen deposition by ~60% and normalized gene expression. MYCT1 and PLEKHA1 act as anti-senescence factors, while PCDH12 and PLXND1 act as pro-fibrotic drivers. The four-gene model shows strong diagnostic potential, and VPA may serve as a therapeutic candidate targeting ECS in IPF. - Source: PubMed
Chen JianqiaoWu WenjuanMa XinranRen JingruiWan RuijieZhou Shuai - To describe the clinical course of a case of exudative vitreoretinopathy in the setting of homozygous loss-of-function PCDH12 mutations and provide a comprehensive literature review. - Source: PubMed
Publication date: 2025/10/29
Bordbar Darius DSomani Nicole AChang EmmanuelRao Prethy