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Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

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

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

A mutation in the Sgkl gene causes defective hair growth in mice.

A rare ovarian tumor was found in a young woman with a genetic fat disorder.

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

Snail2 is crucial for hair growth and affects skin cancer development.

A specific gene mutation causes a severe skin disorder in a family.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

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

PROTAC technology shows promise for cancer treatment but needs more effective E3 ligase recruiters.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

CD98hc's role in skin health decreases with age.

If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.

The LTF gene may help predict and manage nonspecific orbital inflammation.

Two children with lysinuric protein intolerance showed symptoms similar to lupus.

CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.

Cantú syndrome is caused by mutations in the ABCC9 gene.

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

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

sPLA2-X is crucial for normal hair growth and follicle health.

The technology can help diagnose and subtype autoimmune diseases by identifying specific autoantibodies.

Spt4 and Spt6 are essential for fat cell development.

UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.

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

A new enzyme, BSSP, is found in high amounts in the hair follicles of nude mice.