In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
January 2025 in “Institutional Repositories DataBase (IRDB)” This study observed that topical application of maslinic acid stimulated hair growth in mice comparably to minoxidil, possibly through the Wnt/β-catenin pathway and involving ciliary gene activity, highlighting increased levels of trichogenic gene expression and protein levels.
4 citations
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October 2014 in “Springer eBooks” This chapter reviews the roles of ethylene and auxin in seedling growth and development and reports no new experimental results; it highlights recent studies on their mechanistic crosstalk.
2 citations
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March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers used an evolutionary-rate-based method to identify genetic elements associated with reduced hair in mammals, finding a dichotomy between accelerated coding sequences and noncoding regulatory elements influencing hair growth.