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

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.

Calcium channels are vital for normal skin function and their dysfunction can lead to skin issues.

ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.

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

FGFR2 signaling controls Merkel cell formation in different skin regions.

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

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

INTASYL is a promising, adaptable RNAi technology for treating skin cancers.

Nellore cattle have genetic variations linked to their adaptation to tropical environments.

A new easy-to-use biosensor was made to detect androgen receptor mRNA, which could help diagnose related conditions quickly.

Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.

KAP8.1 gene variations affect cashmere weight in Inner Mongolian goats.

LRIG1 is linked to better survival in Merkel cell carcinoma.

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

ARQ-234, a protein designed to treat atopic dermatitis, shows increased effectiveness in early testing.

The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.

Monitoring TGF-β and linc-PINT expression may help identify and treat high-risk heart arrhythmia patients.

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

JW0061 may be a new treatment for hair loss by promoting hair growth through WNT signaling.

The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.

CaM7 and CNGC14 interaction controls root hair growth in Arabidopsis.

Certain genetic markers, especially the MICA gene, are linked to alopecia areata.

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Carvacrol activates the TRPV3 channel, which may help design new skin treatments.