161 citations
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June 1993 in “Journal of Biological Chemistry” Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.
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May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
91 citations
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May 1972 in “Journal of Biological Chemistry” Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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February 2022 in “Biophysical journal” The model shows that filament flexibility and amino acid differences affect how fast intermediate filament proteins assemble.
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May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
April 2019 in “Journal of Investigative Dermatology” DPP4-positive fibroblasts play a major role in producing proteins that lead to skin fibrosis.
April 2019 in “Journal of Investigative Dermatology” Removing REDD1 in mice increases skin fat by making fat cells larger and more numerous.
April 2019 in “Journal of Investigative Dermatology” Fractional photothermolysis helps wounds heal with minimal scarring.
April 2019 in “Journal of Investigative Dermatology” New vitamin D3 forms need the vitamin D receptor to reduce fibrosis in human cells.
The protein's size was reduced, but more work is needed to confirm its function.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
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January 1990 June 1996 in “Journal of Dermatological Science” 198 citations
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October 1986 in “Differentiation” Arabidopsis Formin 2 stabilizes actin filaments, affecting cell-to-cell movement and virus susceptibility.
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March 1996 in “Journal of Investigative Dermatology” 59 citations
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January 1976 in “Vitamins and hormones” Prostate cells have proteins that bind to specific hormones, which can increase protein production when activated by these hormones.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
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January 2002 in “Biological chemistry” Different conditions affect how hair proteins assemble, and certain mutations can change their structure.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
October 2025 in “Phytochemistry Letters” 118 citations
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June 1993 in “Journal of Biological Chemistry” Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
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April 1992 in “Journal of Biological Chemistry” Four-amino acid part makes enzyme sensitive to finasteride.
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October 1985 in “The Journal of Cell Biology” Researchers isolated and identified structural components of human hair follicles, providing a model for studying hair formation.
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August 1995 in “The Journal of Steroid Biochemistry and Molecular Biology” The activity of a specific rat enzyme in the prostate and epididymis is highly dependent on the acidity level.
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January 1990