research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
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research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Diagnosis dan Penanganan TB-IRIS Paradoksikal
Early detection, prevention, and proper management can reduce TB-IRIS complications and deaths in HIV patients.
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research TRPV3 as a Therapeutic Target for Itch
Blocking TRPV3 may help treat itch in dry skin conditions.
research Cloning and Characterization of a Mouse Type I Hair Keratin cDNA
research Disease-related biomarkers as experimental endpoints in 3D skin culture models
research Histologic Compatibility Investigation of Human-hair Keratin Art ificial Tendon Transplantation in the Muscle of Rabbits
Human-hair keratin artificial tendons are biocompatible and degrade well in rabbits.