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

Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.

WNT10A gene mutations cause short anagen hair syndrome.

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

A specific gene mutation causes severe skin and nail issues and hair loss.

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

A new gene mutation causes insulin resistance in a girl and her mother.

A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.

Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.

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

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

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

Lack of cystatin M/E causes thin hair and dry skin.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.

Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.

Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.

A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.

Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.

Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.

KRT80 may worsen cancer by increasing growth and spread, but its full effects on treatment and outcomes need more research.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

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

Deleting TNFα gene reduces skin cancer risk in certain mice.

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