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A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.

Botanical extracts can help treat hair loss in people with certain genetic conditions.

A mutation in the KRT82 gene is significantly associated with Alopecia Areata.

The mutation helps mice handle heat better without affecting hair growth.

A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.

A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.

The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.

Immune cells might contribute to hair loss caused by a specific mutation.

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

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

The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

Fatty acid transport protein 4 is essential for skin and hair development.

FGF5 gene mutations cause long hair in domestic cats.

A gene mutation in mice causes skin defects and early death.