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Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

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

The Itpr3 gene causes a specific hair pattern in mice.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

Arab APS1 patients have unique and recurrent AIRE gene mutations.

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

Some early COVID-19 mutations in patients predicted future common virus mutations.

A gene mutation causes curly hair and hair loss in rats.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.

A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

A specific gene mutation causes congenital hair loss.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

Ribonucleotide excision repair is crucial to prevent skin cancer.

Ribonucleotide excision repair is crucial to prevent skin cancer.