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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.

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

A new mouse mutation causes skin and hair issues, influenced by another gene.

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

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

Some people have a genetic variation that makes them less effective at breaking down drugs.

Loss of Pten in certain hair follicle stem cells increases skin cancer risk.

Genetic mutations can affect female sexual development, requiring personalized medical care.

PlncRNA-1 helps hair follicle stem cells grow and develop by controlling a specific cell signaling pathway.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

Cats with abnormal hair had DSG4 gene changes causing hair problems.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

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

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.

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

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

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

PCFCL may have unrecognized subtypes and needs more research.

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.

A new gene variant causes glucocorticoid resistance in a mother and son.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.