Ask about this productRelated genes to: PCDH12 Blocking Peptide
- Gene:
- PCDH12 NIH gene
- Name:
- protocadherin 12
- Previous symbol:
- -
- Synonyms:
- VE-cadherin-2
- Chromosome:
- 5q31.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-06-28
- Date modifiied:
- 2015-08-25
Related products to: PCDH12 Blocking Peptide
Related articles to: PCDH12 Blocking Peptide
- Atherosclerosis (AS) is a chronic inflammatory vascular disease lacking reliable biomarkers for early diagnosis and risk stratification. This study aimed to identify hub genes with diagnostic potential and characterize immune microenvironment remodeling in AS. GSE43292 and GSE100927 were integrated as the training cohort ( = 168), while GSE41571, GSE120521, and GSE28829 served as independent validation cohorts ( = 48). Batch effects were corrected using the ComBat algorithm. Differentially expressed genes (DEGs) were identified using limma, followed by GO/KEGG enrichment analysis. LASSO regression and Random Forest analysis were performed to identify hub genes. A logistic regression diagnostic model was constructed and evaluated using ROC analysis, 5-fold cross-validation, and external validation. Immune infiltration was assessed using ssGSEA, and correlations between hub genes and immune cells were analyzed using Spearman correlation. A total of 1349 DEGs (870 upregulated and 479 downregulated) were identified. GO and KEGG analyses demonstrated significant enrichment of immune- and inflammation-related biological processes and pathways. Seven hub genes (IBSP, XAF1, SCAMP5, SAMD9L, MYBL1, PCDH12, and CDH19) were identified through the combined application of LASSO regression and Random Forest analysis. The 7-gene logistic model achieved excellent performance in the training cohort (AUC = 0.992, 95% CI: 0.981-1.000), with a mean 5-fold cross-validation AUC of 0.984 ± 0.014, and maintained robust performance in three independent validation cohorts (AUC range: 0.952-1.000). Immune infiltration analysis revealed extensive immune microenvironment remodeling, with significantly increased infiltration of 22 of the 24 immune cell types, particularly monocytes, macrophages, and myeloid cells. Spearman correlation analysis demonstrated strong associations between hub genes, particularly SAMD9L and IBSP, and immune cell infiltration. This study identified a robust 7-gene diagnostic signature for AS and revealed its close association with the inflammatory immune microenvironment, providing potential biomarkers for early diagnosis and risk stratification. - Source: PubMed
Publication date: 2026/07/21
Zhang LeLiu Yu - Polycystic ovary syndrome (PCOS) is a common endocrine disorder that contributes to pregnancy complications like Intra Uterine Growth Restriction (IUGR), leading to compromised foetal outcome. Although maternal metabolic and hormonal imbalances are well-established in PCOS, the specific molecular alterations within the placenta and its outcome remains poorly explored. This study aimed to characterize key molecular signaling alterations in PCOS placentae with respect to steroid hormone receptors, trophoblast lineage specification, along with their structural alterations. To understand the above alterations, PCOS rodent mothers were developed using letrozole treatment for 21days daily orally, following which induction of pregnancy and those pregnant animals were sacrificed at GD18. Tissues were subjected to expression levels of steroidal and placental cell markers using transcriptomic and protein expression, along with morphometric and histological analysis, correlated with hormone profile. Histological analysis of GD 18 PCOS placenta exhibited a reduction in labyrinth zone, with an increased AR expression, along with downregulation of PR, ER ɑ and ER β, indicating an altered steroidal status. Moreover, dysregulation of genes such as Phlda2, Tpbpa, Pcdh12, Prl3b1, CDX2, GCM1, and GATA2 along with reduced expression of SynA, Syn B were observed suggesting an impaired trophoblast differentiation, vascular development, and immune tolerance. Additionally, elevated expressions of Flt4, H2K and IFN gamma suggested compensatory mechanisms attempting to offset placental dysfunction. This study clearly indicates maternal PCOS pathophysiology effects placental development by altering the morphology, along with abnormal hormonal homeostasis, contributing to impaired differentiation. These findings underscore the importance of targeting placental pathways in the management of PCOS-related pregnancy outcomes. - Source: PubMed
Publication date: 2026/05/21
Mahapatra AnanyaPillai GautamiRana RemiShah ZeelNampoothiri Laxmipriya - To investigate the genetic etiology of two pediatric patients presenting with developmental delay and microcephaly. - Source: PubMed
Xuan XiaoyanZhao XiaokeGuo Hu - 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