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    Glossary TRPS1

    genetic disorder causing sparse hair and skeletal abnormalities

    TRPS1 stands for "Trichorhinophalangeal Syndrome Type 1," which is a genetic disorder characterized by distinctive facial features, abnormalities in the fingers and toes, and sparse scalp hair. It is caused by mutations in the TRPS1 gene, which plays a role in the development of bones and hair follicles. This condition can lead to alopecia (hair loss) and other skeletal abnormalities.

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    Research 30 of 473

    1. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice 2008 · 60 citations
    2. Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis Development · 2011 · 59 citations
    3. The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles. PubMed · 2011 · 52 citations
    4. Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling Gene Expression Patterns · 2007 · 46 citations
    5. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    6. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene BMC medical genetics · 2014 · 9 citations
    7. TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome Journal of Dermatological Science · 2016 · 2 citations
    8. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    9. Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I International Journal of Trichology · 2013
    10. 746 Transcriptomic profiling of frontal and occipital dermal papilla reveals potential role of TRPS1 in androgenic alopecia Journal of Investigative Dermatology · 2022
    11. TRPA1 Modulates Mechanotransduction in Cutaneous Sensory Neurons 2009 · 286 citations
    12. TRPV1 Function in Health and Disease Current Pharmaceutical Biotechnology · 2010 · 65 citations
    13. Hair Cycle Control by Vanilloid Receptor-1 (TRPV1): Evidence from TRPV1 Knockout Mice Journal of Investigative Dermatology · 2006 · 49 citations
    14. Dermal TRPV1 innervations engage a macrophage- and fibroblast-containing pathway to activate hair growth in mice Developmental Cell · 2024 · 5 citations
    15. Carnosic acid in topical rosemary extract enhances skin repair via TRPA1 activation JCI Insight · 2025
    16. CD44/TRPV1 dual-targeted nanocarrier enables drug retention and multidimensional therapy for inflammatory skin diseases Chemical Engineering Journal · 2026
    17. A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1 Journal of genetic medicine · 2018 · 1 citations
    18. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    19. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    20. <i>TRPS1</i> mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology Journal of dermatology · 2020 · 9 citations
    21. Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient Annals of Dermatology · 2017 · 9 citations
    22. Treatment of Hair Loss in the Trichorhinophalangeal Syndrome 2018 · 4 citations
    23. Divergent molecular signatures of regeneration and fibrosis during wound repair bioRxiv (Cold Spring Harbor Laboratory) · 2020 · 3 citations
    24. Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis Bioinformation · 2012 · 3 citations
    25. Generalized hypertrichosis after 5% minoxidil solution in trichorhinophalangeal syndrome: A case report and review of the literatures 2023 · 1 citations
    26. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report Skin appendage disorders · 2020 · 1 citations
    27. P02 Accelerated ageing of hair follicles in androgenetic alopecia 2024
    28. 189 Integrating single-cell and spatial transcriptomics of human hair follicles to define transcriptional signature of follicular dermal papilla 2022
    29. ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS Journal of the Endocrine Society · 2022
    30. A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report Journal of Comprehensive Pediatrics · 2022