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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 117

    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. A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1 Journal of genetic medicine · 2018 · 1 citations
    12. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    13. Das Trichorhinophalangealsyndrom Der Hautarzt · 2001 · 12 citations
    14. Trichorhinophalangeal Syndrome Dermatology · 1995 · 10 citations
    15. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    16. Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient Annals of Dermatology · 2017 · 9 citations
    17. <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
    18. Treatment of Hair Loss in the Trichorhinophalangeal Syndrome 2018 · 4 citations
    19. Divergent molecular signatures of regeneration and fibrosis during wound repair bioRxiv (Cold Spring Harbor Laboratory) · 2020 · 3 citations
    20. Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis Bioinformation · 2012 · 3 citations
    21. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report Skin appendage disorders · 2020 · 1 citations
    22. Generalized hypertrichosis after 5% minoxidil solution in trichorhinophalangeal syndrome: A case report and review of the literatures 2023 · 1 citations
    23. Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1 Pediatric Dermatology · 2024
    24. A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene Clinical Case Reports · 2025
    25. 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
    26. A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report Journal of Comprehensive Pediatrics · 2022
    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. 3: Multimodal Molecular Analysis Reveals Divergent Trajectories Of Wound Regeneration Versus Fibrosis Plastic and reconstructive surgery. Global open · 2021
    30. Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study Dermatology Practical & Conceptual · 2025