7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
16 citations
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August 2021 in “Tumor Biology” This review discusses the dual role of the TMPRSS2 gene in coronaviral lung infection and prostate cancer, cautioning against TMPRSS2 inhibitors for early prostate cancer due to potential pro-inflammatory effects.
301 citations
,
May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in 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.
March 2026 in “Mendeley Data” This tool was developed to enhance reproducibility and sensitivity in measuring partial hair regrowth in alopecia areata patients, particularly those undergoing JAK inhibitor therapy, using scalp photographs.
This study identified ISPP-Rb, a novel immuno-stimulatory complex from Royoporus badius, that significantly activates murine macrophage cells and induces multiple proinflammatory cytokines.
5 citations
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January 2018 in “Interdisciplinary sciences: computational life sciences” Accurate protein modeling can help develop new treatments for prostate cancer and other diseases.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
This study found that the Wnt10b gene promotes, while the SFRP2 gene inhibits, hair growth in Wanxi Angora rabbits, influencing the hair growth cycle and follicle regeneration.
June 2008 in “Wound Repair and Regeneration” In this study, Msx-2 knockout mice showed enhanced re-epithelialization and faster wound closure compared to wild-type controls, suggesting Msx-2 may influence skin morphogenesis during wound repair.
17 citations
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December 2004 in “Bioorganic & Medicinal Chemistry Letters” This study identified N-acyl arylsulfonamides, particularly N-(Boc-piperidine-4-carbonyl)-benzenesulfonamides, as steroid sulfatase inhibitors with improved cellular potency compared to previous compounds.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
14 citations
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March 2016 in “Mechanisms of Development” This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
April 2023 in “Journal of clinical and translational science”
April 2023 in “Journal of Investigative Dermatology” This study found that single-nucleus RNA sequencing identified more relevant keratinocyte clusters and specific markers than single-cell RNA sequencing, offering a new perspective on skin cell differentiation and function.
29 citations
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February 2007 in “Hormone and metabolic research” This study found that antisense oligonucleotides can significantly reduce androgen receptor expression in cultured human sebocytes and may offer new therapeutic possibilities for androgen-associated skin diseases.
8 citations
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March 2015 in “International Journal of Oncology” This study successfully established Tsc2-deficient embryonic stem cells from Eker rats and found these cells have distinct gene expression compared to non-mutant cells, which could help identify new therapeutic targets for TSC-related pathogenesis.
37 citations
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September 2003 in “Journal of Medicinal Chemistry” This study found that compound 2g inhibits steroid sulfatase effectively without exhibiting estrogenic activity, making it a promising candidate for breast cancer treatment.
July 2022 in “Journal of Investigative Dermatology” This study found that the cosmetic olfactory receptor agonist cyclohexyl salicylate may stimulate hair growth and expand stem cell progeny, suggesting potential as a cosmetic adjuvant for hair loss.
20 citations
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February 2010 in “Journal of Investigative Dermatology” Slug (Snai2) helps regulate hair growth timing in mice.
89 citations
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May 2005 in “Stem Cells” This study found that keratinocyte stem cells in mouse skin are closely related to side population or BCRP1-positive cells based on their localization and marker expression.
111 citations
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August 2002 in “Journal of Medicinal Chemistry” This study reports that 2-(1-Adamantyl)-4H-thiochromen-4-on-6-O-sulfamate is the most potent steroid sulfatase inhibitor identified so far, exhibiting 170-fold higher activity than the lead compound estrone sulfamate.
August 2009 in “Mechanisms of Development” June 2015 in “The American journal of dermatopathology/American journal of dermatopathology” This study demonstrated that a 1-step, peroxidase-labeled conjugated antibody method provides more accurate immunoreactivity patterns in hair follicle substructures compared to the 2-step LSAB method, which may cause false-positive staining in sebaceous glands.
January 2026 in “Therapeutics” This study found that SCUBE3 protein is upregulated in various cancers, promoting tumor growth and poor outcomes, while suppressing growth in renal cell carcinoma, and may serve as a diagnostic marker and potential therapeutic target for several diseases due to its secreted nature.
16 citations
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April 2023 in “Physical Medicine and Rehabilitation Clinics of North America”
30 citations
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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.
1 citations
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October 2018 in “Bioscience reports” This study suggests that Annexin A2 isoform 2 might play a role in regulating the proliferation and growth of dermal papilla cells, potentially impacting the hair follicle growth cycle.