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

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

A small group of slow-growing cells causes basal cell carcinoma to return after treatment.

Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.

The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.

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

Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.

Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.

Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.

Two specific genetic markers increase the risk of hair loss in Asian populations.

Specific gene variants affect wool traits in Chinese Tan sheep.

Equine hoof progenitor cells can help develop therapies for hoof diseases like laminitis.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

Asiasari radix extract may be a potential treatment for melanoma because it selectively triggers cell death in melanoma cells by affecting p53 regulation.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.

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

Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

Rat hair follicle stem cells can be used to improve blood vessel growth in engineered skin.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

New LSS gene variants help understand congenital hypotrichosis 14 better.

Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.

Four new genes related to sheep wool were discovered, showing genetic diversity.

The SOSTDC1 gene is crucial for determining sheep wool type.