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Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

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

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

FoxN1 overexpression in young mice harms immune cell and skin development.

C-scores can help predict gain-of-function and loss-of-function mutations.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.

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.

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.

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