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This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

This study concluded that transurethral seminal vesiculoscopy combined with finasteride is a safe and effective treatment for recurrent hemospermia in the observed patients.

This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

This report describes a rare case of a three-day-old male with ichthyosis hystrix type of epidermal nevus, featuring specific skin and hair symptoms but no nail or skeletal abnormalities.

This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.

Lack of small, fine hair on the front hairline is a key sign of frontal fibrosing alopecia.

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

This study found that Arabidopsis thaliana mutants with altered AtRBOHC/RHD2 enzyme function showed abnormal protein regulation linked to increased drought sensitivity due to disrupted plasma membrane protein balance and cytoskeleton changes, as revealed through proteomic analysis and advanced microscopy.

This case study highlights the importance of an integrated diagnostic and treatment approach for children with rare genetic disorders, as demonstrated in a 10-year-old girl with CNOT3 syndrome, characterized by symptoms like mental retardation, gastrointestinal issues, and unique facial features.

This case study describes a 5-year-old boy with vitamin D dependent rickets type 2, motor delays, and alopecia totalis who showed improved biochemical parameters with calcium and calcitriol treatment.

This study developed a new mask-free method using digital micromirror and microfluidic systems to create multicellular heterospheroids for drug screening, finding that heterospheroids exhibit higher drug resistance and combinatorial drugs are more effective than single drugs in cancer therapeutic applications.

This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.

This case report describes a 36-year-old female patient with panhypopituitarism, experiencing severe adrenal insufficiency and thyroid hormone deficiency, which led to electrolyte imbalance, QT interval prolongation, and ventricular tachycardia; treatment stabilized her condition, underscoring the importance of hormonal evaluation in arrhythmia assessment.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

This study found that poly(ethylene-co-vinyl alcohol) membranes support the self-assembly of dermal papilla cells into compact spheroidal microtissues capable of inducing new hair follicles, suggesting potential for large-scale production for hair follicle regeneration.

In this study, a new pH-responsive hydrogel composed of polyvinyl alcohol and boric acid was found to release salvianolic acid B effectively, reducing excessive scar formation and enhancing tissue regeneration during early-stage wound healing.

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 demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.

This study in the Arab population of Gaza described pseudohermaphroditism due to 17β-HSD deficiency, where individuals showed marked masculinization after puberty despite inadequate androgen proportions.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

This case report describes a patient's psychiatric and medical journey after a cardiac arrest, focusing on managing agitated behavior without medication, leading to significant improvement in cognitive function over a 5-week hospital stay.

In this study, a 14-year-old boy with nevus sebaceous on his scalp underwent a three-stage serial excision, resulting in complete lesion removal with minimal scarring and no recurrence after six months.

This study developed a method that combines image-based and simulation techniques to improve the reconstruction of hair dynamics from multi-view videos, enabling accurate hair motion representation and animation.

This study observed that three-dimensional cultures of dermal papilla cells enhanced endothelial cell migration and angiogenesis in vitro, which may improve vascularization in tissue-engineered skin constructs.

This review explores how combining extracellular vesicles with hydrogels and utilizing 3D bioprinting technologies creates innovative composite systems for wound healing, offering advanced mechanical and biological support, while addressing challenges like degradation and regulatory issues in clinical applications.

This study showed that the zinc finger protein GIS3 is important for root hair growth in Arabidopsis by regulating RHD2 and RHD4 genes, with application of ethylene and cytokinin helping restore root hair presence in mutated variants.

This review discusses the potential of augmented reality to advance vascular and endovascular surgery by improving 3D anatomical understanding and reducing patient risk, but notes that further research is needed to overcome current technological limitations.

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.