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A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.

Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.

Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

SOX2 is crucial for skin cell function and hair growth, and it plays a role in skin cancer and wound healing.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

Targeting SOX proteins may improve cancer treatment by restoring immune function.

Researchers found a non-functional sheep keratin gene due to mutations.

Loss of TET2 increases the risk of skin and oral cancer.

The PP2A-B55α protein is essential for brain and skin development in embryos.

Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.

Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.

Increasing Smurf2 hinders hair follicle stem cell differentiation and wound healing.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

Overexpressing SSAT enzyme reduces prostate tumor growth in mice.

The TT genotype of a specific SNP in sheep is linked to better wool quality.

Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.

TMPRSS2 affects COVID-19 severity and treatment options.

A substance called Compound 2g can strongly block STS (a hormone-related enzyme) without affecting estrogen levels, making it potentially good for treating breast cancer.

Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.

The B2 genes are crucial for hair growth in rats.