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A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.

Deleting vitamin D and calcium receptors in skin cells increases skin cancer risk by reducing DNA repair and stress response.

The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.

A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.

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.

Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.

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

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

Mitochondriopathy may cause eyelash loss.

TCDD speeds up skin barrier formation by increasing certain gene expressions.

The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.

TCDD reduces EGF receptors in the liver, affecting growth and development.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

Careful diagnosis and management of MCTD are crucial due to potential severe complications.

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.

There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.

Disrupting β-catenin signaling in certain cells causes anorectal malformations.

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.

The PML protein helps prevent skin cancer in mice.

Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.

A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.

DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.

Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.