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Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.

Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.

HOXC13 is essential for hair and nail development by regulating Foxn1.

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.

The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.

Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.

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

Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.

Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.

Growth factors are crucial for hair development and could help treat hair diseases.

Wnt signaling is important for development and cell regulation but can cause diseases like cancer when not working properly.

Histone demethylases play a key role in the development of many diseases and may be targets for treatment.

Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.

The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.

The document concludes that understanding how the skin's immune system and inflammation work is complex and requires more research to improve treatments for skin diseases.

Some growth factors, while important for normal body functions, can cause diseases when not regulated properly.

HO-1 helps skin health and healing but can worsen melanoma; it's a potential treatment target for skin diseases.

Certain proteins, caspases-1 and -11, are important in the early development of skin inflammation in mice.

The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

Alopecia Areata is a complex, unpredictable autoimmune hair loss condition with limited treatment options and a significant psychological impact.

Non-biologic immunosuppressive drugs are crucial for treating autoimmune and chronic inflammatory skin diseases.

Thiopurines help treat IBD but require genetic testing to avoid side effects.