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The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

Disabling the FGF5 gene in sheep leads to longer wool.

Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.

Older hair follicle stem cells have a reduced ability to renew themselves, leading to more hair loss.

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

Docetaxel and paclitaxel for breast cancer can cause permanent, severe hair loss.

Chromosomal changes, including those in the WRN gene and rDNA, may significantly contribute to aging.

Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.

Mutations in certain receptors can cause diseases and offer new treatment options.

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

Hairless protein affects hair follicle structure by regulating the Dlx3 gene.

Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.

Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.

Aquaporins could be new drug targets for treating polycystic ovary syndrome.

Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

Vitamin D receptor helps control hair growth genes in skin cells.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

The vitamin D receptor helps maintain hair and bone health even without binding vitamin D.

Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.

Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.

Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.

TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.

Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.

KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.