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

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.

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

Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.

With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.

Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.

The skin and thymus develop similarly to protect and support immunity.

Mutations in certain receptors can cause diseases and offer new treatment options.

Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

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

Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.

Over 67 genes linked to ichthyosis help improve diagnosis and treatment.

A gene called Gk5 controls lipid production in the skin and affects hair growth.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.

The research identified genes that explain why some sheep have curly wool and others have straight wool.

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.

A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.

The document explains the genetic causes and characteristics of inherited hair disorders.

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

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.