14 citations
,
May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
451 citations
,
March 2005 in “Endocrine Reviews” This paper discusses the role of steroid sulfatase in hormone-dependent tumors and highlights the development of potent inhibitors, noting the commencement of a phase I trial for one inhibitor in postmenopausal breast cancer patients.
77 citations
,
February 2017 in “Stem Cell Reports” This study found that activation of Wnt/β-catenin signaling in mouse testes promotes spermatogonial differentiation and reduces the stem cell pool, with SHISA6 inhibiting this process and maintaining stem cell characteristics.
January 2025 in “Cell Communication and Signaling” This study reviews the role of the zinc finger protein CXXC5 in cellular signaling and its implications for cancer, discussing how its dysregulation is linked to various physiological and pathological processes, as well as potential therapies targeting CXXC5.
2 citations
,
January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
26 citations
,
February 1998 in “DNA and Cell Biology” This research identified that the constitutive and inducible expression of the Keratin 6 gene in transgenic mice skin is controlled by multiple regulatory elements spread throughout its 5' flanking region.
37 citations
,
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.
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.
3 citations
,
June 2021 in “Frontiers in genetics” This study found that STAT3 directly inhibited the activity of the sheep FST gene promoter, consequently reducing cell proliferation and promoting a better understanding of hair follicle development mechanisms.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” This study suggests that eNOS and STAT6 gene polymorphisms may increase the risk of developing PCOS in South Indian women.
January 2021 in “Research Square (Research Square)” This study found that STAT3 directly inhibits the sheep FST gene and cell proliferation, shedding light on the molecular mechanisms of hair follicle development and wool characteristics.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.
3 citations
,
January 2022 in “Burns & Trauma” This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.
2 citations
,
August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
28 citations
,
November 2019 in “Gene” This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences” This study found that the CTLA-4 gene polymorphism (rs733618) has no association with polycystic ovarian syndrome in the studied population.
46 citations
,
May 1995 in “Proceedings of the National Academy of Sciences” This study demonstrated that a specific 9-kbp fragment of the bovine keratin 6 gene effectively directs tissue-specific and inducible expression in transgenic mice, suggesting potential applications for targeted gene therapy in hyperproliferative skin conditions.
11 citations
,
January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
April 2017 in “Journal of Investigative Dermatology” In this study, CTCF was found to play essential roles in epidermal differentiation and skin barrier formation, simultaneously acting as a suppressor of epithelial inflammatory responses in mouse skin.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
13 citations
,
November 2005 in “Endocrinology” This study explored the secretion and cellular localization of different forms of follistatin and FST-like-3, revealing variable secretion kinetics and possible intracellular roles, particularly for nuclear FSTL3.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
54 citations
,
February 2002 in “Carcinogenesis” This study suggests that activation of polyamine catabolism in K6-SSAT transgenic mice may significantly increase skin tumor development and progression to carcinomas following chemical induction.
January 2019 in “Publisher” This study found that human basal cell and squamous cell carcinomas have distinct gene expression patterns, with specific up-regulation of zinc finger encoding genes in basal cell carcinoma.
This study found that super-enhancers in squamous cell carcinoma stem cells are distinctly different from those in normal skin stem cells, with ETS2 playing a crucial role in promoting tumor growth.
14 citations
,
February 2008 in “Stem Cells and Development” This study identified several genes highly expressed in germ-line stem cells that are also common in hematopoietic stem cells, potentially aiding the exploration of fundamental stem cell commonalities.
2 citations
,
December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” This study found no evidence that CTLA-4 gene polymorphism (rs733618) plays a role in polycystic ovarian syndrome among the participants.
33 citations
,
September 1990 in “Proceedings of the National Academy of Sciences” This study found that a 671-base pair promoter sequence from the ultra-high-sulfur keratin gene is sufficient to direct tissue-specific and development-specific expression of a reporter gene during hair growth in transgenic mice.