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

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

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.

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

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.

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

UV radiation may cause DNA changes in skin, certain UVB therapy helps psoriasis, a new gene mutation is linked to mild piebaldism, different immune cells affect psoriasis, a drug promotes hair growth, and some cancer drugs could treat skin barrier issues.

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

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.

A genetic mutation in the LIPH gene causes hair loss and growth defects.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.

Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.

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

Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.

Using special RNA to target a mutant gene fixed hair problems in mice.

Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.

A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

Environmental factors can cause mutations in skin proteins, leading to skin disorders.

Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.

Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.