Search

everythinglearnresearchcommunity

for

Search:↓

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

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

Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.

A gene mutation causes curly hair and hair loss in rats.

Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.

The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

The condition is linked to chromosome 12, but no mutations were found in the known genes.

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.

Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.

CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.

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

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.