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

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

Overexpressing a specific enzyme in mice causes hair loss and female infertility.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

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

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

SQSTM1 is linked to increased risk of alopecia areata.

The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.

Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.

Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.

Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

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

Certain genetic markers may increase or decrease prostate cancer risk.

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

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

New genetic variants linked to albinism were found in Pakistani families.

Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.

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

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

Gene variation affects prostate issues and hair loss.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.