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About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

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

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

A mutation in the human hairless gene causes alopecia universalis.

Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.

The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.

Estrogen and MLL enzymes work together to regulate genes important for hair growth and leukemia.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

A specific gene mutation causes sparse, brittle hair in a family.

KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.

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

Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.

Mutations in the Whn gene affect hair keratin gene expression differently.

H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.

The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.

The HCR gene contributes to psoriasis risk.

Scientists created a detailed map of gene activity in different parts of human hair follicles.

A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.

New mutations in the hairless gene may cause hair loss and affect bone development.

A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.