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Mutations in the P2RY5 gene cause hereditary woolly hair.

The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.

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

The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.

Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

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

Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.

Genetic mutations can affect female sexual development, requiring personalized medical care.

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

K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.

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

Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.

The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.

Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.

Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.

The combined treatment effectively managed severe skin issues in Olmsted syndrome.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

Cantú syndrome is caused by mutations in the ABCC9 gene.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.