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New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.

Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.

Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.

Three new types of a skin blistering disease were found, caused by specific gene mutations.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

Over 67 genes linked to ichthyosis help improve diagnosis and treatment.

Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

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.

Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.

Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.

Skin symptoms can indicate endocrine disorders and have various treatments.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

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

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

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

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

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.

Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.

External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.