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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.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.

The new model helps understand and develop treatments for genetic skin disorders like AEC.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

Certain changes in the KAP6-1 gene affect the thickness and length of cashmere goat fibers.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

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 L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

A new keratin 6 type in mice explains why some mice without certain keratin genes still have normal hair and nails.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

5% topical minoxidil improves hair density and quality in monilethrix patients.

Certain gene variations might increase the risk of a hair loss condition in Koreans.

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

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

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.

Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.

Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.

The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.