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The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

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

Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

Desmoglein 4 is controlled by specific proteins that affect hair growth.

A specific gene mutation causes complete hair loss without other health issues.

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.

Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.

Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.

Researchers created a mouse model of a type of rickets that does not cause hair loss.

Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.

A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.

Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.

Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.

Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.

The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

Vitamin D receptor gene variations are not linked to alopecia areata.

A woman's mature cystic teratoma caused her virilization by producing testosterone.

Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.

Certain genes are linked to the risk of developing Alopecia Areata.

Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.

High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

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

The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.

A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.