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

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

Gene mutations can cause problems in male genital development.

Mutations in the P2RY5 gene cause hereditary woolly hair.

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

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

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

The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

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

A specific gene mutation causes congenital hair loss.

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

An American Bully with a genetic skin condition improved significantly with specific topical treatments.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.

TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

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

Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.

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 Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

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.

Researchers made a mouse model with curly hair and hair loss by editing a 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.

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

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

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