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Keratin mutations cause skin diseases and could lead to new treatments.

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.

Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.

APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.

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

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.

Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.

The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.

Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.

A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.

Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.

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

New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.

Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.

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

A specific thyroid hormone resistance mutation may be linked to different types of hair loss.

A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.

Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.