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The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.

Cantú syndrome may be linked to pituitary adenomas.

THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.

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.

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

CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.

Researchers found two new genetic variants linked to Alzheimer's disease.

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

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

Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.

Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.

The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.

No effective treatment exists to stimulate hair growth in atrichia with papular lesions.

Oestrogens are key for bone growth during puberty in both boys and girls.

The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.

Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.

The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.

New genes and pathways are important for testosterone production and male sexual development.

The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.

Lamins are vital for cell survival, organ development, and preventing premature aging.