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

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

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.

Blocking CISD1 reduces hearing loss from cisplatin in mice.

A new DSG4 gene mutation causes hair defects in a young girl.

Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.

A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.

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

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

A specific gene mutation causes a severe skin disorder in a family.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

Non-coding RNAs may be key in diagnosing and treating rare skin disorders.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

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

A gene variant causes a skin and hair disorder by disrupting protein balance.

CD98hc's role in skin health decreases with age.

C-scores can help predict gain-of-function and loss-of-function mutations.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

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

ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.

Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.

CD2 might be a new treatment target for patchy alopecia areata.

PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.

Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.

Syndecan-1 is essential for maintaining skin fat and preventing cold stress.