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The researchers reported that glucuronides stored as dried blood spots under ambient conditions exhibited stability equivalent to liquid samples stored at -80°C.

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.

Deep Brain Stimulation helps manage Parkinson's symptoms when medication isn't enough.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.

In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.

Mutations in the DSG4 gene cause specific hair and scalp issues.

In this study, UVFD and sUVRD techniques revealed distinctive characteristics of GD lesions, suggesting that GD might be more common in younger individuals and females than previously thought, possibly due to underdiagnosis. Incorporating dermatoscopy in exams may help improve GD detection and management.

This study found that GD-23, a dipeptide ligand of TSPO, exhibited an anxiolytic effect in the elevated plus maze test, which was inhibited by selective neurosteroid synthesis inhibitors, suggesting a neurosteroidogenic mechanism.

This study reports that the transgenic expression of Dsg1 in mice rescued the severe B6-Dsg3−/− phenotype and created a syngeneic mouse model of pemphigus vulgaris, which may aid in understanding autoimmunity mechanisms.

This case report describes a patient with systemic lupus erythematosus who developed Degos disease and non-scarring alopecia, highlighting dermoscopy's role in diagnosis and treatment prognosis.

This observational study concluded that anti-Ku antibodies do not specifically indicate any systemic autoimmune disease or associated clinical phenotype.

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.

This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

This study explored the structure and function of lipocalin prostaglandin D synthase, revealing its dual role in substrate catalysis and as a lipophilic ligand carrier, potentially informing future drug delivery design.

PGD2 stops hair growth and is higher in bald men with AGA.

This review discusses Ganser syndrome as a rare and misunderstood disorder within psychiatric practice, noting its exclusion from the DSM-5 and potential dual origins as organic or psychogenic.

This article discusses the teratogenic risks of skin condition treatments for individuals with DSD and notes that testosterone replacement, often used in this population, may cause acne.

This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.

This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

This study reports that mutations in human L-PGDS affect the entrance and exit of ligands in its binding cavity, suggesting these residues play a role in ligand interaction processes.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.

This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.

This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.

This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.