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The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

PCOS causes infertility mainly due to hormonal imbalances, insulin resistance, and chronic inflammation.

The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.

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 TRPV3 gene variant may cause the long-haired suri alpaca coat.

Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.

Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.

Certain gene variations are linked to the thickness of cashmere goat hair.

Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.

The research identified key proteins that affect wool fiber thickness in Angora rabbits.

Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

A specific gene mutation causes congenital hair loss.

A gene mutation causes woolly hair in a Syrian patient.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

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

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

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

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

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.