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This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.

CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.

This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.

This case report illustrates that a diagnosis of Cronkhite-Canada syndrome can be made without the presence of polyps, as demonstrated by resolving symptoms with steroid treatment.

This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.

This study developed and validated a sensitive liquid chromatography–mass spectrometry method to measure aristolochic acid‐I in rat plasma, successfully applying it to pharmacokinetic research.

This article reviews antibody drug conjugates for cancer treatment, describing their mechanism, recent approvals, and ongoing research efforts, but reports no new clinical results.

This animal study observed that treatment with the S1PR modulator NXC736 significantly reduced lesion area and CD8+ T cell infiltration in mice with alopecia areata, suggesting its potential as a promising therapy for the condition.

This article reviewed a study suggesting that CCN1 secreted by human adipose-derived stem cells may enhance wound healing, although the authors note limitations such as small sample size and incomplete evaluation of wound healing processes.

This study found that ablative fractional carbon dioxide laser treatment improved skin fibrosis, reduced skin hardening, and enhanced hair follicle growth in localized scleroderma patients, with significant improvements across several clinical measures and no severe adverse effects observed.

This study suggests that long-term treatment with the contact sensitizer SADBE in mice may reduce leucocyte traffic in alopecia areata through impaired leucocyte extravasation.

This study found that treating acute and chronic canine skin wounds with adipose-derived mesenchymal stem cells significantly improved healing and reduced inflammation, suggesting potential benefits for human wound care.

This study found that the SAAD-41 is a validated tool for assessing psychosocial outcomes in individuals with alopecia areata, showing strong correlations with established measures of quality of life and coping.

This study suggests that β-Catenin and extracellular matrix components interact in a regulatory loop to influence fibroblast behavior and wound repair properties in dermal tissue.

This report describes a 38-year-old female diagnosed with autoimmune polyendocrine syndrome Type II after presenting with shock.

In this study, the novel ASAXA-μCT imaging method identified that the shrinkage of sweat glands with aging causes dermal defects, reducing skin elasticity and contributing to wrinkling and sagging.

This review discusses the potential of asiaticoside from Centella asiatica for enhancing wound healing after endoscopic submucosal dissection and highlights delivery strategies to improve its gastrointestinal application; it reports no new clinical results.

In this report, a 16-year-old Saudi girl with Woodhouse-Sakati Syndrome exhibited unique findings, including hepatic hemangioma and low growth hormone, suggesting the importance of considering WSS in similar clinical presentations.

This study found that administering adipose-derived stem cells with ATP improved hair regrowth in male mice with androgenetic alopecia, while the combination was less effective in female mice.

This article highlights a lack of published data on vitamin D deficiency prevalence among individuals with central centrifugal cicatricial alopecia, despite its known link to other forms of hair loss.

This case report highlights that women with nonclassical congenital adrenal hyperplasia should be aware of the risk of having a child with classical CAH if their partner also carries a severe mutation.

This review supports an autoimmune hypothesis for Satoyoshi syndrome, noting associations with autoantibodies and autoimmune diseases, and reports an observed improvement in most patients with corticosteroid or immunosuppressant treatments.

This study suggests that the C-terminal of AHF is crucial for its binding to keratin bundles and modulating the keratin meshwork in hair follicles.

This study found that Musashi-2 regulates mRNA targets to restrict epithelial cell migration, revealing a key function of Msi2 beyond its known role in promoting cell growth.

This study reports a novel LC/MS method that separates and analyzes all known ceramide subclasses in human stratum corneum, identifying a new subclass, CER [EOdS], with minimal sample preparation.