December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.
4 citations
,
July 2020 in “Research Square (Research Square)” This study provided the crystal structure of the human steroid 5α-reductase 2 enzyme and identified key molecular mechanisms for testosterone reduction and finasteride inhibition, aiding in understanding disease-causing mutations and potentially facilitating new drug development.
75 citations
,
September 2007 in “Journal of Heredity” This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.
1 citations
,
October 2024 in “JCEM Case Reports” In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
30 citations
,
October 2020 in “Nature Communications” This study provides the first crystal structure of the human SRD5A2 enzyme, revealing key insights into its function and inhibition which may aid future drug development.
24 citations
,
July 2017 in “Structure” In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.
February 2022 in “Research Square (Research Square)” This study demonstrated that LGR5 is a marker of hair follicle stem cells across species using a transgenic pig model and noted similarities and differences in expression patterns compared to humans.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.
August 2026 in “Scientific Reports” This study found that FAM19A5 acts as a negative regulator of wound healing by hindering keratinocyte migration and partially transitioning them between epithelial and mesenchymal states, suggesting that targeting the FAM19A5-PPARD-Snail axis could offer new therapeutic options for impaired wound repair.
5 citations
,
June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
101 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” This review discusses the role of 5α-reductase enzymes in androgen action and related disorders, noting that their specific inhibitory drugs show promise for conditions like benign prostatic hypertrophy; it reports no new clinical results.
305 citations
,
March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
45 citations
,
February 2005 in “Steroids” This study reported that certain newly synthesized steroidal derivatives showed stronger inhibitory activity against the 5α-reductase enzyme than finasteride in hamsters, suggesting their potential as enzyme inhibitors.
7 citations
,
June 2017 in “Gene” This study found that ectopic expression of FGF5s in transgenic Chinese Merino sheep increased wool length and greasy fleece weight compared to non-transgenic controls.
November 2024 in “Journal of Investigative Dermatology” Serotonin helps wounds heal faster.
93 citations
,
February 2009 in “Annals of the New York Academy of Sciences” This review describes the roles of 5α-reductase isozymes in prostate development and pathology and reports no new clinical results.
This study identified ISPP-Rb, a novel immuno-stimulatory complex from Royoporus badius, that significantly activates murine macrophage cells and induces multiple proinflammatory cytokines.
20 citations
,
June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” This review summarizes recent research and patents on 17β-HSD3, 17β-HSD5, and 3α-HSD3 inhibitors, suggesting their potential in treating androgen-dependent diseases, but reports no new clinical results.
January 2026 in “Nature Reviews Urology”
June 2026 in “Applied Biological Chemistry” This study found that the M5 isolation method for human dermal papilla cells significantly improved attachment efficiency, proliferative capacity, and trichogenic potential, providing an optimized strategy for scalable manufacturing in hair regeneration therapies for conditions like alopecia.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
January 2025 in “PLoS ONE” This study found that ING5 knockout mice are prone to developing lymphomas and severe dermatitis, suggesting ING5 plays a role in tumor suppression and stem cell maintenance in vivo.
July 2025 in “Journal of Investigative Dermatology” 10 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.
11 citations
,
April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.