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About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

A specific gene mutation causes varying hair loss severity in a Pakistani family.

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

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

The Hairless gene is crucial for healthy skin and hair growth.

The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.

A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

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

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

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

MOF controls skin development by regulating genes for mitochondria and cilia.

Hoxc13 gene is essential for hair, nail, and papilla development.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

Identical p53 gene mutations in different cancers suggest the need for careful treatment.

Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

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

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

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

New genetic mutations linked to rare skin disorders were found in three newborns.

Ribonucleotide excision repair is crucial to prevent skin cancer.

A new mutation in mice causes crooked whiskers and messy hair.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

A gene variant increases the risk of a type of hair loss by affecting hair protein production.