CACNA1B (Calcium Voltage-Gated Channel Subunit Alpha1 B)

Our data suggest a putative GSPT2-related X-linked NDDs through dysregulation of cell cycle progression and calcium/GABAergic signaling pathways.

Single-cell RNA sequencing demonstrated that CACNA1C was expressed in fibroblasts and myofibroblasts, PIEZO1 was expressed across all five cell subtypes, and TRPV4 was expressed in fibroblasts and monocytes or macrophages. This study initially identified unique molecular subtypes and key genes for patients with OC from the novel angle of MICs.

This study identified eight TM-related hub genes with prognostic significance in HCC and established a novel TM-related gene signature. Furthermore, we validated KPNA2 as a key regulator of telomere maintenance and tumor progression in HCC, suggesting it as a potential therapeutic target for improving clinical management of HCC.

We developed and validated a robust nomogram for predicting RFS in cT1 ccRCC patients after nephrectomy, offering valuable insights for individualized patient management.

Besides reporting 17 novel variants in 14 genes (BLM, CACNA1B, EDA, ELN, ENG, ERC6, EVC2, PNPLA1, PITCH1, PORCN, SIN3A, TP63, TYR, and WNT10B), the study also identified three atypical clinical presentations due to dual diagnoses, and the c.454C>T variant in the SDR9C7 gene, previously reported only in dogs, was, for the first time, confirmed as causative for ichthyosis in humans.

There are patterns of somatic mutation in T4N0 colon cancer tumors that are significantly absent in T123N0 and anyTN1 colon tumors. Somatic mutation interaction highlighted the role of DIDO1, CACNA1B and ALMS1 in T4N0 pathogenesis which contained appreciable mutations that were predicted to be severe. Among these genes, DIDO1 was associated with a decrease in survival. See Video Abstract.

Furthermore, our study argues that Sox10 exerts at least some of its functions in oligodendrocyte progenitor cells, in myelinating oligodendrocytes, or throughout lineage development via these ion channels. By doing so, we present one way in which oligodendroglial development and properties can be linked to neuronal activity to ensure crosstalk between cell types during the development and function of the central nervous system.

As both CaV3.2 and CaV3.3 have been implicated in peripheral pain signaling, the analgesic potential of Hf1a-NH2 was explored in vivo in a mouse model of incision-induced acute post-surgical pain. Consistent with this role, Hf1a-NH2 produced antiallodynia in both mechanical and thermal pain.

In addition, CACNA1B downregulation led to a decrease in the cognitive functions of naked mole rats. These findings reveal the pivotal role of CACNA1B in regulating radiation-induced brain injury and will lead to the development of a novel strategy to prevent brain injury after irradiation.

We identified a total of 188 SFARI ASD genes (17%) carrying pathogenic variants in our cohort:122 and 66 genes in cases and controls, respectively. Cases included 111 high-confidence, strong candidate ASD genes that were enriched for nervous system development (p- 1e-05), axon guidance (2.6e-7), opening of presynaptic calcium channels (3.5e-05) and oligodendrocyte precursor cell markers (2.23e-05). 28 genes were common to both SCZ and BP subjects which were significantly enriched for genes CACNA1G, CACNA2D1, CHRNA7, CACNA1E, and CACNA1B involved in presynaptic voltage-gated calcium channel activity (5.26e-07).

High expression of N-type calcium channels indicates a favorable prognosis for gliomas. This study provides a better understanding of the link between gliomas and N-type calcium channels and may offer guidance for the future treatment of gliomas.

The first four of them are drug targets for chemotherapy and immunotherapy of esophageal cancer and involved in pharmacokinetics and pharmacodynamics pathways. Research identified novel DEGs in SCC and AC, and detected four potential drug targeted genes (ERBB3, ATP7B, ABCC3, and GALNT14) and five drug-related genes.