January 2012 in “DigtalCommons @ Texas Medical Center Library (Texas Medical Center)” This study found that Stat3 deletion in certain skin cells led to increased differentiation and altered stem cell behavior, suggesting its significant role in skin tumor development and keratinocyte migration.
April 2017 in “Journal of Investigative Dermatology” In this study, the authors concluded that the TS-associated polyomavirus may disrupt Wnt/β-catenin signaling, likely contributing to abnormal hair follicle formation in trichodysplasia spinulosa.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
16 citations
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January 2019 in “Aging” This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.
4 citations
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June 2015 in “Journal of Genetics/Journal of genetics” This abstract reports funding sources for ongoing research and does not present any study results.
38 citations
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May 1971 in “Clinical genetics” This study suggests 5α‐androstan‐3α‐17β‐diol may be the true inducer of kidney enzymes in certain mice, while its induction mechanism likely involves pinocytosis rather than a receptor protein.
This study found that activin B promotes the initiation and development of hair follicles in cultured and neonatal mice.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
6 citations
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March 1996 in “Journal of Investigative Dermatology” 3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
354 citations
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August 1991 in “Molecular Endocrinology” This study found that distinct isoenzymes of 3 beta-hydroxysteroid dehydrogenase are expressed in human adrenals and gonads compared to the placenta and skin.
November 2025 in “Journal of Investigative Dermatology” This study found that UVB exposure led to visible tanning and distinct DNA methylation changes in pigmentation genes in tan-capable skin but not in non-tan skin, highlighting GNAS as a potentially UVB-responsive gene.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that topical treatment with 7DHC and BM15766 reduced hair growth in mice compared to those treated with Ethanol/DMSO, and hair did not recover after treatment ceased, alongside increased apoptotic cells and decreased expression of specific genes.
August 2012 in “Nature Cell Biology” In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.
36 citations
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September 1999 in “Journal of Cell Science” This study suggests that basonuclin may act as a tissue-specific transcription factor for ribosomal RNA genes by interacting with the promoter region necessary for high transcription levels in human keratinocytes.
35 citations
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August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
21 citations
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January 2023 in “International Journal of Molecular Sciences” This review discusses the role and interactions of the calcium-binding protein S100A6 in cellular processes and its association with various diseases, highlighting the need for further research to fully understand its biological impact.
30 citations
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October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
15 citations
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April 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that A(3)B(5) downregulates melanin production and suppresses melanoma cell growth by promoting proteasomal degradation of TRP-2.
August 2025 in “ACS Omega” This study synthesized and evaluated hydroxycinnamate derivatives for their ability to inhibit human SRD5A1, finding that three compounds showed significant inhibitory activity and low cytotoxicity. Compound 10a notably reduced SRD5A1 protein expression in cells, suggesting potential for nonsteroidal treatment of androgen-related conditions.
January 2011 in “Medical Recapitulate” This article reviews the role of 5α-reductase in androgen-related diseases like acne and androgenetic alopecia and reports no new clinical results, emphasizing the importance of studying the enzyme.
13 citations
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January 2015 in “Steroids” This study generated a pharmacophoric model for both isoforms of steroidal 5α-reductase using 6-azasteroids, providing a structural framework for designing new inhibitors.
11 citations
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December 2018 in “Bone” This study found that a high-energy shock wave can increase osteogenic activities in human mesenchymal cells, offering insights into potential therapeutic targets for trauma-induced heterotopic ossification.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
This commentary notes that 5-alpha reductase inhibitors have successfully treated benign prostatic hyperplasia and androgenetic alopecia but reports no new findings.
1 citations
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March 2022 in “Journal of Dermatological Science” This study concluded that overexpressing TERT and BMI1 in cultured human dermal papilla cells extended their lifespan and enhanced their ability to induce hair growth in mice.
March 2014 in “The Journal of Urology” In this study, treatment with a 5a-reductase inhibitor increased CD8+ T cell infiltration in benign prostatic hyperplasia tissues, suggesting an impact on inflammatory responses.
28 citations
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February 2006 in “Biochemical and Biophysical Research Communications” Wnt-10b helps skin cells and hair grow.