April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
February 2022 in “Research Square (Research Square)” This study found that high TSPEAR expression in colorectal cancer was associated with poor prognosis and correlated with various tumor and immune-related factors.
January 2022 in “Research Square (Research Square)” This study found that elevated TSPEAR expression in colorectal cancer was associated with poor overall prognosis and correlated with tumor infiltrating immune cells, suggesting its potential as a predictive biomarker.
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.