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The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

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

The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.

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

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.

Androgenetic alopecia is linked to a higher risk of coronary heart disease due to certain genetic factors and high homocysteine levels.

Higher miR-34a levels and the A variant of the MIR-34A gene are linked to increased risk and severity of alopecia areata.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

Metformin works better for adolescent girls with PCOS who have certain genetic variations.

Fat tissue stem cells may help increase hair growth.

The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.

A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.

Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.

Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.

The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

Laser hair-comb therapy doesn't improve male-pattern hair loss.

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

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