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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.

KLHL24-mutant stem cells help understand skin and heart disease.

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

The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.

The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

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

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

Genetic screening can help diagnose and manage infertility in Slovenian couples.

Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.

A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.

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

A specific genetic deletion in goats affects cashmere yield and thickness.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

The scraggly mutation causes hair loss and skin defects in mice.

Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.

Sheep cells were successfully modified to include a spider silk protein gene.

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

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

NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

Introducing the rat OTC gene partially corrected OTC deficiency in mice.

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

CARASIL can cause different symptoms even with the same genetic mutation.

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

A specific RNA helps increase the growth of skin cells in Liaoning cashmere goats by working with a protein to boost a growth-related gene.

SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.