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Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.

Ayurveda's descriptions of genetic disorders align with modern genetic understanding.

Studying rare genetic disorders can help us understand and treat common diseases better.

PCOS is a genetic disorder affecting women's reproductive health, with treatments focused on symptoms like insulin resistance and fertility.

Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

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.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

Men with thinner hair from genetic hair loss may be more likely to have an enlarged prostate.

Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.

The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.

Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.

Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.

NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.

Fingerprints form uniquely before birth due to specific genetic pathways and local signals.

Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.

The document concludes that various signaling pathways and genetic factors are crucial for chicken feather development, affecting poultry quality.

Different types of atopic dermatitis were linked to specific genetic and immune changes, suggesting that severe cases might need stronger immune-targeting treatments.

Men have worse COVID-19 outcomes than women due to genetic and hormonal differences.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

Personalized treatments for hair loss are becoming more effective by using genetic information.

An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

The research found that male pattern hair loss is mostly genetic and involves hair thinning due to hormonal effects and changes in gene expression.

The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.

Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

Frontal fibrosing alopecia in families shows similar signs to individual cases and may have a genetic link.