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This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.

This study identifies five compounds, including gemcitabine and methylene blue, that inhibit SADS-CoV and suggests their potential for developing antiviral drugs against future outbreaks.

This study found that desmosomal cadherin desmoglein 3 loses its rigidity upon Ca2+ removal, regardless of desmosome functional state, suggesting a central role for signaling in hyper-adhesion.

In this mouse study, researchers reported that a 3D bioprinted hydrogel scaffold containing adipose-derived mesenchymal stem cells and nitric oxide enhanced burn wound healing by promoting neovascularization through the VEGF signaling pathway.

This study found that intravenous high dose calcium infusions followed by high dose oral calcium effectively treated vitamin D dependent rickets type II, leading to complete biochemical and radiological healing and improved growth in two patients.

This case report details a functioning adrenocortical oncocytoma in a 3-year-old girl with hirsutism and virilization, highlighting its rarity in childhood and including a literature review without new clinical data.

This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.

USB videodermatoscopes are a practical and affordable alternative for diagnosing skin conditions.

The study suggests low-cost videomicroscopes may identify some hair shaft features but are unreliable for comprehensive scalp trichoscopy compared to standard devices, due to color and resolution limitations.

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 case report details a 13-year-old Thai boy with Hutchinson-Gilford progeria syndrome, who presented with cardiovascular complications, including coronary artery calcification and non-ST-segment elevation myocardial infarction.

This study found that VYC-15L (Juvéderm Volbella XC) was safe and effective for enhancing lip and perioral areas, achieving higher lip fullness improvement and fewer severe injection site reactions compared to NASHA, with effects lasting up to one year.

Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.

This study suggests using a handheld dermatoscope may allow for simple and efficient differentiation of eruptive vellus hair cysts by detecting vellus hair shafts, as demonstrated in a familial case involving five women.

This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.

This study found that topical application of the HDAC1/3 inhibitor Vorinostat promoted hair regrowth in a mouse model of alopecia areata and influenced the hair cycle in normal mice.

This study found that 3alpha-diol, an androgen metabolite, improved cognitive and affective performance in aged male rats, suggesting its role in countering age-related decline in hippocampally-influenced behaviors.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

This study demonstrated that AtVLN4 plays a role in root hair growth by regulating actin organization in a calcium-dependent manner.

This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.

This case report describes a 12-year-old boy who developed severe shingles with skin erosion and hair loss despite early aciclovir treatment after a stem-cell transplant for relapsed acute myeloid leukemia.

This study outlines the features and diagnosis of Vogt-Koyanagi-Harada disease, highlighting its association with specific genes, its prevalence among pigmented races, and treatment with systemic steroids and immunosuppressants.

This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.

This study presents the design of an autonomous bioregeneration chamber that aims to extend human lifespan to 130-150 years by optimizing biological and environmental conditions, suggesting that a longer healthspan is possible through technological, nutritional, and socio-economic interventions.

A specific gene mutation causes sparse, brittle hair in a family.

This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.

This study found that CRISPR/Cas9 efficiently edited two cellulose synthase-like genes in spinach, significantly altering root hair growth patterns and suggesting potential for large-scale genome editing in this crop.

In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.

This study reports that teflonpledget-reinforced suturing of coronary fistula, combined with coronary artery bypass grafting, improved symptoms in patients with LAD-to-MPA fistula and triple vessel disease, though larger studies are needed for confirmation.

This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.