Search

everythinglearnresearchcommunity

for

Search:↓

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.

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.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

Keratin 17 is crucial for normal hair growth by regulating hair cycle transitions with TNFα.

The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.

MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

Keratin 16 delays skin maturation and affects skin and hair development in mice.

MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Kdm6b is crucial for skin cell differentiation.

A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

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

Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.

Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

The naked mutation in mice causes hair loss and helps identify keratin genes.

Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.

Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.