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Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

Young girls whose mothers have PCOS may have higher activity of a specific enzyme that could lead to developing PCOS later.

Immune cells in Hidradenitis suppurativa become more inflammatory and may be important for treatment targets.

PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.

Mutations in the CYP21A2 gene are not a major factor in causing PCOS.

The conclusion is that while oral contraceptive pills are effective for PCOS-related high androgen levels, new treatments with fewer side effects are needed.

Sexual orientation does not affect the prevalence of PCOS or fertility rates in women undergoing artificial donor insemination.

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

Obesity is a major risk factor for insulin resistance in Taiwanese women with PCOS, which is also an independent risk factor for metabolic syndrome.

Scientists can grow human hair follicle stem cells in a lab without changing their nature, which could help treat hair loss.

CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.

New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.

Hair follicle-derived IL-7 and IL-15 are crucial for maintaining skin-resident memory T cells and could be targeted for treating skin diseases and lymphoma.

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

The guideline suggests using specific criteria to diagnose PCOS, recommends various treatments for its symptoms, and advises screening for related health issues.

Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.

Losing weight and eating better are key to managing metabolic syndrome and its related conditions.

Treg cell-based therapies might help treat hair loss from alopecia areata, but more research is needed to confirm safety and effectiveness.

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

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

5-alpha reductase inhibitors may help protect the brain and gut in Parkinson's disease.

Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.

Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.

Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.

A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

A new gene mutation may allow some piebaldism patients to regain skin color in white patches.