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The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

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

The authors maintain there is a significant link between vitamin D deficiency and central centrifugal cicatricial alopecia in Black patients, and call for more research on the topic.

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.

Not having enough cystatin M/E protein causes less hair growth and dry skin.

IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

Alopecia areata involves immune system changes, especially in severe cases, with potential new treatment targets identified.

Consider rare forms of CAH for accurate diagnosis and treatment.

A special diet can fix hair problems in argininosuccinase deficiency.

Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

A 16-year-old boy had pernicious anemia, autoimmune hemolytic anemia, and later developed alopecia areata.

A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.

Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Standard treatment for congenital erythropoietic porphyria was ineffective over five years.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.

Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.

CCCA is a common scarring hair loss in African descent women, possibly linked to genetics, hair care practices, and health issues like diabetes.

Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.

A boy with a rare skin condition improved quickly after starting zinc supplements.