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The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.

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

Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.

CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.

S100A3 protein is crucial for hair shaft formation in mice.

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

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

Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.

CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.

AtCSLD3 and GhCSLD3 genes enhance root growth and cell elongation in plants.

A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

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

The infant with a urea cycle disorder improved with treatment and a liver transplant.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

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

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

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.

LSD1 is essential for healthy skin development and creating the skin's protective barrier.

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

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

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

A gene mutation in Lama3 is linked to a common type of hair loss.

Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

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