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The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

New genetic mutations causing hair loss were found in a Chinese family.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.

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 baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.

Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

Combining minoxidil and plant extracts improved hair growth in a boy with a rare genetic disorder.

Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.

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

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.

Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.

Topical PUVA and tacrolimus ointment can effectively and safely treat infant alopecia universalis.

The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.

Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.

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

Mutations in the LSS gene cause a rare type of hereditary hair loss.

Environmental factors can cause mutations in skin proteins, leading to skin disorders.

The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.

PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.

Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.

Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.