Search

everythinglearnresearchcommunity

for

Search:↓

The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.

A specific gene mutation causes congenital hair loss.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

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 change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

HLA-DRB5 and other genes may be linked to alopecia universalis.

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

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

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

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.

A new gene mutation is linked to monilethrix in the studied family.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

Mutations in the KRT85 gene cause hair and nail problems.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

Certain gene variations may increase the risk and severity of alopecia areata.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.