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WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.

New genetic mutations linked to rare skin disorders were found in three newborns.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

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

Some hair loss disorders are caused by genetic mutations affecting hair growth.

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

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 mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such 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.

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

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

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.

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.

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.

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

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

ARL15 is important for fat cell development and the release of the hormone adiponectin.

THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.

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