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This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.

In this study, the authors reported that AtRXR3, a phosphorus-inducible DUF506 protein, modulates root hair growth under phosphorus stress by interacting with calmodulin and influencing calcium oscillations.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study found that arginine vasotocin is evolutionarily conserved across diverse taxa and may play roles in neuroendocrine, immune, and stress signaling, with potential antimicrobial applications.

This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.

This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.

This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.

This study found that both the natural ligand 1alpha,25(OH)(2)D(3) and the synthetic agonist LG190178 bind similarly to the vitamin D receptor's coregulator motifs, suggesting similar biological functions.

This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.

This review summarizes the proposed model that describes how different shapes of 1alpha,25(OH)2D3 ligands interact with the vitamin D receptor to mediate genomic and rapid responses in cells.

This study found that specific residues in human steroid 5alpha-reductase types 1 and 2 influence substrate binding and resistance to the inhibitor Finasteride, with certain substitutions significantly affecting these interactions.

This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.

This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.

This study mapped genomic copy number variation in Chinese fine-wool sheep, identifying genes involved in sensory perception, nutrient metabolism, growth, and development, and highlighting significant selection on the RXFP2 gene.

This study found that the small signaling peptide RALF22 plays a key role in root hair growth response to volatile compounds emitted by Penicillium aurantiogriseum through ethylene, auxin, and photosynthesis signaling in Arabidopsis.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

In this study, researchers developed an in vitro airway-organoid model using human lung-derived cell lines on RADA16-I hydrogels to serve as a potential tool for studying adenovirus isolation, pathogenesis, and antiviral drug screening.

In this case study, a neoadjuvant therapy combining gemcitabine and Disitamab Vedotin proved effective and safe for a muscle-invasive bladder cancer patient with severe renal insufficiency, who could not tolerate platinum-based treatments. The study suggests this regimen may be a viable alternative, pending further research.

This study confirms the presence of large structural variations in the genome of Nellore cattle, which may contribute to their environmental adaptation to tropical regions.

This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.

In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.

This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.

This minireview discusses a proposed model of the vitamin D receptor that explains how 1alpha,25(OH)2D3 can mediate both genomic and rapid responses through different ligand shapes and cellular locations, without presenting new research findings.

This study used cryo-electron microscopy to reveal the structural mechanisms by which TRPV6 and TRPV3 ion channels open, close, and are regulated, providing insights for potential future research.