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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.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

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

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

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

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

A new gene mutation causes insulin resistance in a girl and her mother.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.

The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.

Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.

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 ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.

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

A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.

Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.

Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.

Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.

Using special RNA to target a mutant gene fixed hair problems in mice.

Loose anagen hair syndrome, often affecting young girls, can be diagnosed with a hair-pull test and usually gets better on its own, but severe cases may need treatment.

Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.

A specific thyroid hormone resistance mutation may be linked to different types of hair loss.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

Gene mutations can cause problems in male genital development.