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In this case report, the authors describe a child and his mother with a heterozygous STING variant linked to SAVI, who exhibited atypical disease courses and varying organ involvement, underlining the diverse clinical manifestations of SAVI.

The study reports that the AVET system showed higher efficiency in transfecting cultured human keratinocytes compared to SuperFect and PrimeFector, with AVET reaching levels of enzyme activity similar to normal cells in keratinocytes from lamellar ichthyosis patients.

This study found that vinblastine's metabolites show binding affinities for receptors linked to nausea and alopecia, suggesting potential changes to its structure could minimize these side effects during chemotherapy.

In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.

This study analyzed post-marketing data from the U.S. FDA Adverse Event Reporting System and identified both known and new safety concerns for Avacopan, an anti-neutrophil cytoplasmic antibodies-associated vasculitis treatment, emphasizing the need for monitoring during early treatment stages.

In this study, researchers using network pharmacology and molecular docking methods found that compounds from Avicennia Marina could inhibit hepatitis C virus infection by targeting key proteins such as AKT1 and TNF-α, showing potential for anti-HCV treatments.

This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.

In this study, gene therapy using a VDR-expressing adenoviral vector promoted hair growth in Vdr-KO rats, suggesting its potential for treating alopecia associated with type II rickets.

This study found that Cannabidivarin (CBDV) promotes neuronal differentiation and inhibits oligodendrocyte maturation via TRPV1 modulation, highlighting its potential in neural stem cell research.

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.

In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.

This study found that volatile compounds from Bacillus subtilis strain WM13-24 improved root development in Arabidopsis by influencing auxin signaling.

This article reviews the genetic diversity, clinical symptoms, diagnosis, and prevention strategies of feline calicivirus in domestic cats, but reports no new clinical results; it emphasizes the importance of vaccination and proper hygiene.

This study found that the protein OsUEV1B is essential for maintaining phosphate balance in rice, with Pi deficiency leading to its inhibition and causing overaccumulation of phosphate in mutants.

This report from SRUC VS highlighted a suspected case of Schmallenberg virus infection in a calf born to an imported heifer, noting consistent clinical signs and seroconversion in the dam.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.

In this study, VVF was found to be a highly variable and unreliable measure of void space in granular scaffolds, sensitive to various input parameters and less predictive than particle count.

The researchers reported that VEGF increases vascular permeability in mesenteric microvessels of anaesthetized frogs through specific cellular pathways involving tyrosine autophosphorylation and PLC activation.

CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.

This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.

This case report details an occurrence of Vogt-Koyanagi-Harada disease during pegylated interferon-α2b and ribavirin therapy for chronic hepatitis C.

This study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.

This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.

This study observed that the lower part of vibrissa hair roots in adult Wistar rats receives a richer blood supply and structural protection, compared to the upper part.

This study found that carvacrol activates the TRPV3 ion channel by binding to a specific pocket formed by the S2-S3 linker, providing insight into its role in skin sensitization and potential for designing specific modulators.

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.

This review covers recent developments in inner ear therapeutics and gene delivery methods but reports no new clinical results; it highlights potential strategies for treating hearing and balance disorders.