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

A new gene variant causes glucocorticoid resistance in a mother and son.

A new therapy for a skin blistering condition has not been developed yet.

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

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

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

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

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

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

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

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

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

The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.

The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.

Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.

Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.

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

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

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.

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.

The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.

Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.

People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

Genetics play a role in acne, but how exactly they contribute is not fully understood.

Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.