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A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.

Farudodstat may help treat alopecia areata by protecting hair follicles.

ODC overexpression in hair cells increases tumor growth by reducing Notch signaling.

The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.

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.

Sulfur-containing radioprotectors can protect hair from X-ray damage if given before exposure but worsen damage if given after.

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.

Rodent spiny hair traits are due to genetic factors other than the Edar gene.

Mice without certain skin proteins had abnormal skin and hair development.

Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.

Mice without the vitamin D receptor are more prone to UV-induced skin tumors.

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.

Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.

EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

A truncated protein linked to breast cancer may change cell adhesion.

Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.

New genetic mutations linked to rare skin disorders were found in three newborns.

Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.

Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.

Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.

A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.

A rare case of a transplant patient developing a skin condition linked to HPV-49.