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

Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.

The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.

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

ESR2 gene linked to female-pattern hair loss.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

The VEGF +405G allele may increase the risk of PCOS in South Indian women.

Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.

Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

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

5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.

The treatment was not recommended due to limited effectiveness and significant side effects.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A unique gene mutation was found in a family with monilethrix.

The hr gene is linked to hair loss in Valle del Belice sheep.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

Gene variation affects prostate issues and hair loss.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.