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The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.

K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.

Genetic mutations can affect female sexual development, requiring personalized medical care.

Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.

Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.

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

Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.

Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.

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

Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.

Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.

A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.

Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.

Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.

FGF5 gene mutations cause long hair in domestic cats.

The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.

Prostate cancer cells can make their own androgens to activate the androgen receptor, and treatments like abiraterone may increase this ability, suggesting new therapies should target the entire steroid-making pathway.

Keratins are crucial for cell structure, growth, and disease risk.

Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.

Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.

The document concludes that identifying the specific cells where skin cancers begin is important for creating better prevention, detection, and treatment methods.

Dorper sheep's wool shedding is linked to specific genes and pathways, which may help understand human hair growth.

Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.

Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.