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

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

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

A new gene mutation may allow some piebaldism patients to regain skin color in white patches.

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.

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

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.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

PTCH gene mutations contribute to basal cell carcinoma development.

mrp/plf-mRNA can indicate tumor-promoting effects in skin.

A specific mutation in PA-PLA1α causes abnormal hair growth.

The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.

The PP2A-B55α protein is essential for brain and skin development in embryos.

Defects in certain proteins cause major heart abnormalities during early development.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

A rare skin condition in a boy is likely due to a specific genetic mutation pattern.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

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

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

A new genetic mutation in the hairless gene causes a rare hair loss disorder.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

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

A new gene mutation linked to a skin condition was found in a Spanish family.

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

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.