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The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

Researchers found a non-functional sheep keratin gene due to mutations.

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

Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.

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

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

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.

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

New gene variants were found for rare skin and hair disorders, improving understanding and treatment.

Topical IKKα inhibitors may help prevent CCS tumours.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

A rare gene variant causes hair and nail issues in a family.

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

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

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

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

New genetic mutations causing hair loss were found in a Chinese family.

A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.

PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

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