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A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.

A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.

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

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

Mutations in the Whn gene affect hair keratin gene expression differently.

A rare EGFR mutation in newborns leads to severe health issues and early death.

The N gene affects the protein makeup of mouse hair.

Specific keratin gene mutations can cause monilethrix.

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

Nelfb is crucial for forming skin fat tissue by regulating genes needed for fat cell development.

HtrA2 activity is crucial for normal hair growth by regulating fat cell development.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

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

Rac1 is crucial for normal hair structure and pigmentation.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

A new therapy for a skin blistering condition has not been developed yet.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

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

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

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

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.