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Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

A certain gene variation can affect protein production and is linked to male pattern baldness.

The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.

The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.

Type I and Type II keratin chains can form heterodimers despite sequence differences.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.

PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.

Some women with PCOS have rare genetic variants linked to the condition.

A KRT32 gene variant causes loose anagen hair syndrome.

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

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

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

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

A specific gene mutation causes congenital hair loss.

Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.

The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.

Specific keratin gene mutations can cause monilethrix.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.

Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.

The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.

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

HPV8 causes hair follicle stem cells to grow, leading to skin lesions.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.