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A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

A specific gene change is linked to severe hair loss.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

Genetic variants in specific genes cause a type of hair loss.

Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.

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

OR2AT4 helps reduce aging and cell damage in human skin cells.

Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.

A genetic variant in the KRT25 gene causes tightly curled hair.

Some prostate cancers have gene changes that may affect treatment with certain drugs.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

Some men's prostate tissues have low enzyme levels due to genetic changes, possibly affecting treatment for prostate enlargement.

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.

KAP genes show significant genetic variability, but its impact on hair traits is unclear.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

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

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.

Mutations in the SNRPE gene cause hereditary hair loss.