research Targeted expression of spermidine/spermine N1-acetyltransferase increases susceptibility to chemically induced skin carcinogenesis
Increasing SSAT makes skin more prone to cancer.
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research Sodium selenate as a disease-modifying treatment for mild–moderate Alzheimer’s disease: an open-label extension study
Sodium selenate was found to be safe and possibly slows Alzheimer's progression, but more research is needed.
research Congenital erythropoietic porphyria five years observation with standard treatment: a case report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research Syndecan-1 Is Required to Maintain Intradermal Fat and Prevent Cold Stress
Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Review of Scalp Alopecia due to a Clinically Unapparent or Minimally Apparent Neoplasm (SACUMAN)
SACUMAN, a rare condition causing hair loss without clear signs, is often misdiagnosed and needs scalp biopsies for accurate detection.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis
Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.