research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
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990-1000 / 1000+ results research 129 Utilizing Polygenic score in predicting the disease activity and arthritis in psoriasis patients
Polygenic Score can help predict severe psoriasis and psoriatic arthritis.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research The exploration of mitochondrial‐related features helps to reveal the prognosis and immunotherapy methods of colorectal cancer
Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Protein kinase Cepsilon is linked to 12-O-tetradecanoylphorbol-13-acetate-induced tumor necrosis factor-alpha ectodomain shedding and the development of metastatic squamous cell carcinoma in protein kinase Cepsilon transgenic mice.
Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
research A mechanism-informed deep neural network enables prioritization of regulators that drive cell state transitions
A new neural network helps identify key regulators in cell changes, aiding in understanding diseases and finding new treatments.
research Rare and common genetic determinants of metabolic individuality and their effects on human health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Alopecia areata exhibits cutaneous and systemic OX 40 activation across atopic backgrounds
Alopecia areata patients show increased inflammation and OX40 activation, suggesting a new treatment target.