GJB6 (Gap Junction Protein Beta 6)

The paw pad hyperkeratosis phenotype in the investigated dog shows similarities to Clouston syndrome and strongly suggests that the GJB6 missense variant is responsible for its condition. However, our investigation also highlights differences between human and dog that could provide deeper insights into the function of GJB6.

Our Plp1-tTA::tetO-SNCA*A53T transgenic (Tg) mice express mutant human A53T α-syn in oligodendrocytes after dietary doxycycline withdrawal at 8 weeks of age; they typically develop progressive ataxia around 22 weeks and die by 30 weeks...In human MSA-C, distinct distribution patterns between α-syn oligomers and p-α-syn deposits were also observed. Thus, increased sharing of α-syn oligomers via preserved Cx gap junctions may help attenuate MSA-C pathology by reducing neuronal α-syn aggregates.

Our findings establish Cx HC inhibition as a promising therapeutic avenue in GBM and highlight abEC1.1 as a potential candidate for clinical translation.

Consequently, the 5-year OS of 45% could not be attributed solely to oncological factors, as most of these patients did not die from recurrences but rather from associated comorbidities. The findings of this study provide a foundation for future randomized controlled trials aimed at further enhancing vulvar cancer patients' care and outcomes.

Nomoscore-high patients exhibited resistance to AMG.706 and ABT.888, suggesting therapeutic vulnerabilities. These findings highlight SUMOylation plays a critical role in CRC heterogeneity, immune modulation, and prognosis, offering a novel biomarker system for risk stratification and personalized therapy.

P=N/A, N=0, Withdrawn, Regeneron Pharmaceuticals | N=20 --> 0 | Not yet recruiting --> Withdrawn

The inhibitory effects of CNPs on glioma cell progression and tumor growth were much better than TMZ, TNPs and CNPs. Our study showed that circCDR1 could regulate the miR-890/GJB6 axis to inhibit glioma progression, and the constructed CNPs had a good inhibitory effect on glioma progression.

P=N/A, N=20, Not yet recruiting, Regeneron Pharmaceuticals | Trial completion date: Dec 2030 --> Jun 2030 | Trial primary completion date: Nov 2026 --> Jun 2030

A machine learning classifier based on luminal-specific aging distinguished normal from cancer tissue and was highly predictive of breast cancer subtype. We speculate that luminal epithelia are the ultimate site of integration of the variant responses to aging in their surrounding tissue, and that their emergent phenotype both endows cells with the ability to become cancer-cells-of-origin and represents a biosensor that presages cancer susceptibility.

Recent findings suggest that Cxs hold potential as therapeutic targets for mitigating metastasis and drug resistance. Furthermore, they may serve as novel biomarkers for cancer prognosis, offering promising avenues for future research and clinical applications.

The prognostic signature of AGGRGs constructed could efficiently estimate the prognosis and immunotherapy effectiveness of OV patients. In addition, AAK1 may represent a promising therapeutic target for OV.

P=N/A, N=20, Recruiting, Decibel Therapeutics | Not yet recruiting --> Recruiting