research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
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research Androgenetic alopecia: An autosomal dominant disorder
Hair loss in androgenetic alopecia is caused by genetic factors and androgen excess, and can be treated with combined therapies.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Changes in Expression and Function of Extrasynaptic GABAAReceptors in the Rat Hippocampus during Pregnancy and after Delivery
Pregnancy increases certain GABAA receptors in rat brains, influenced by steroid levels.
research Constitutive activation of S tat3 in mouse epidermis is linked to hair deficiency and cytoskeletal network damage
Overactive Stat3 in mouse skin causes hair loss and cell structure damage.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Stimulation of ectodermal organ development by Ectodysplasin-A1
Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.