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

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

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.

A new gene mutation causes insulin resistance in a girl and her mother.

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

Certain genetic variants may increase the risk of developing PCOS.

A genetic marker linked to a type of hair loss was found in most patients studied.

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

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

CT-707 is effective and safe for treating certain Chinese lung cancer patients.

The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.

Researchers found a specific T cell receptor linked to severe drug reactions like Stevens-Johnson syndrome when patients take carbamazepine.

SK2 channels help control sensory signals in rat muscle spindles and hair follicles.

The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.

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

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

Lower levels of MYLK and CALD1 in bladder cancer and osteosarcoma are linked to worse survival rates.

The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.

CaM7 and CNGC14 interaction controls root hair growth in Arabidopsis.

The TRPV3 gene variant may cause the long-haired suri alpaca coat.