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

Mutations in the LIPH gene cause woolly hair in a child.

A new genetic mutation causing Werner's syndrome was found in an Indian man.

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

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

Lack of functional CYLD in mice leads to early aging and cancer.

Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

A gene variant increases the risk of a type of hair loss by affecting hair protein production.

Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.

The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

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

A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

Specific mutations in a receptor cause facial abnormalities and hair loss.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.

LIPH mutations cause woolly hair in some Chinese people.

Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

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