Search

everythinglearnresearchcommunity

for

Search:↓

The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.

A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

Afatinib, neratinib, and zanubrutinib could be effective against KRASG12C-mutant tumors.

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

Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.

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

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

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.

Studying rare genetic disorders can help us understand and treat common diseases better.

Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.

Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.

Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.

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.

Different conditions affect how hair proteins assemble, and certain mutations can change their structure.

Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.

A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.

An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

Rice bran oil extracted by supercritical CO2 is considered non-genotoxic.

Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.