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The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.

Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.

A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.

Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.

Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.

The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

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 shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.

Acne is caused by genetics, diet, hormones, and bacteria, with treatments not yet curative.

Male pattern hair loss caused by follicular miniaturization; early diagnosis and treatment can reduce psychological burden.

New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.

The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.

A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.

Lactate production is important for activating hair growth stem cells.

Men generally have more severe COVID-19 cases and higher death rates than women due to biological differences.

There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.

Men are more likely to get infectious skin diseases, while women are more prone to autoimmune and pigment-related skin conditions, influenced by biological and environmental factors.

Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.

A specific thyroid hormone resistance mutation may be linked to different types of hair loss.

A woman with acne and baldness was found to have a rare ovarian condition but successfully had a child through fertility treatment.

The document concludes that hair loss is complex, affects many people, has limited treatments, and requires more research on its causes and psychological impact.

There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.

Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.

A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.

Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.