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Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.

Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.

Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

Gene variant linked to prostate cancer, hormone levels, and hair loss.

Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

Mutations in the enzyme don't significantly change how it binds to its specific substances.

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

Male hormones and reduced plakoglobin can impair heart electrical function and increase arrhythmia risk in males.

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

Mutations in certain receptors can cause diseases and offer new treatment options.

A truncated protein linked to breast cancer may change cell adhesion.

A new mouse mutation causes skin and hair defects due to a gene change.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

A new genetic mutation was found causing hair and eye issues in a boy.

The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.

Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.

Women with hair loss have more androgen receptors in certain hair follicles.

Mutations in the CYP21A2 gene are not a major factor in causing PCOS.

Scientists successfully created and analyzed the structure of a part of the human androgen receptor with specific modulators and a peptide to understand how it binds differently in various tissues.