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

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.

Keratin 17 is crucial for cell growth in wound healing by aiding protein synthesis.

PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.

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.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.

Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.

Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.

PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.

Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.

Basonuclin may help control ribosomal RNA gene activity in skin cells.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

Ptprq has multiple forms that change during inner ear development.

Grasp protein helps maintain skin health after UVB exposure.

The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.

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