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The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

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.

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

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.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

Understanding where cancer cells come from helps create better prevention and treatment methods.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

AXR3 and SHY2 genes control the growth and timing of root hair development in plants.

Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.

New treatments targeting specific genes show promise for treating keratin disorders.

A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.

The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

Mice can correct hair follicle orientation without certain genes, but proper overall alignment needs those genes.

The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.

The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.

New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.

Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.

A gene mutation causes woolly hair in a Syrian patient.

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

Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.

SGK3 is essential for proper hair growth and health.