research Tru9I Variant as a Novel Genetic Marker for Vitamin D Deficiency in Alopecia Areata
The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
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research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Safety and efficacy of advanced and targeted acid α-glucosidase (AT-GAA) (ATB200/AT2221) in ERT-switch nonambulatory patients with Pompe disease: preliminary results from the ATB200-02 trial
The combination of tadalafil and finasteride improves urinary symptoms and erectile function in men with enlarged prostates.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Collodion baby to bathing suit ichthyosis: A 6-year follow-up
A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
research Skin fragility, diffuse ecchymosis and blisters on a yellowish waxy base
A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
research When Beauty Turns Toxic: Acute Contact Dermatitis and Kidney Injury Following Hair Straightening
Hair straightening products with glyoxylic acid can cause skin irritation and kidney damage.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research A(1-7) reduces pathologies associated with SLE in MRL-lpr mice
A(1-7) treatment reduces symptoms of lupus in mice.