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A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

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

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

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.

The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

Injecting specific oligonucleotides can change hair growth and structure by altering a gene.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

The mutation helps mice handle heat better without affecting hair growth.

A specific gene mutation causes sparse, brittle hair in a family.

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

A new gene mutation causes long hair in some Maine Coon cats.

A mutation in the human hairless gene causes alopecia universalis.

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

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

C-scores can help predict gain-of-function and loss-of-function mutations.

Increasing SSAT makes skin more prone to cancer.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.

A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.

The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.

Defective protein folding due to a mutation is key in ANE syndrome.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.