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Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

A truncated protein linked to breast cancer may change cell adhesion.

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

The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.

Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.

PCOS involves immune and genetic factors, with key roles for T cells and specific genes.

A new test helps find drugs to treat head and neck cancer by targeting c-Rel.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.

A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.

A rare skin condition in a boy is likely due to a specific genetic mutation pattern.

A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.

Somatic BHD mutations are rare in Japanese renal tumors.

A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.

Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.

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

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

Increasing type 17 collagen reduces aging signs in skin cells caused by UV light.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

ADAM17 could be a potential target for treating PCOS.

Estrogen and prolactin may play bigger roles in female hair loss than previously thought.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.