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Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.

Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

Neurotrophin-4 increases calcium current in specific mouse neurons through the PI3K pathway.

A rare gene variant causes hair and nail issues in a family.

Topical melatonin may reduce skin aging by inhibiting certain cellular pathways.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

Trichotillomania may have a genetic link to psychiatric disorders.

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

lncRNA MTC affects protein levels in goat skin cells, impacting hair growth.

Mettl3 is essential for normal tissue development and self-renewal by regulating gene expression.

Maternal melatonin improves offspring hair growth by affecting specific proteins and pathways.

Neuronatin is found in various cells of rat tissues and has a unique location in sperm cells.

DNMT1 helps turn hair follicle stem cells into fat cells by blocking a specific microRNA.

Blocking mTORC1 reduces skin tumor growth in mice.

A specific gene mutation causes congenital hair loss.

The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.

Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.

Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.

FOXN1 gene variants cause low T cells and immune issues from birth.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.