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A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

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

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

Ets2 gene is crucial for placental development in mice.

A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

Two mouse mutations cause similar hair loss despite different skin changes.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

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

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

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

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

A genetic marker linked to a type of hair loss was found in most patients studied.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

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.

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

Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.

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

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

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

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

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

Hairless gene not strongly linked to baldness.

The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.

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.