10 citations
,
January 2007 in “Dermatology” This study reported higher levels of certain proteins, such as DAX-1, SRY, and WT-1, in the bald scalp of patients with androgenetic alopecia.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
16 citations
,
December 2019 in “Animals” In this study, cashmere goats engineered to overexpress the Tβ4 gene in hair follicles produced more cashmere, indicating that Tβ4 promotes secondary hair follicle development and enhances yield.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
7 citations
,
March 2022 in “Scientific reports” In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
2 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study provides the first draft of the male Asiatic lion's whole genome, revealing low genomic diversity and highlighting conservation concerns.
5 citations
,
August 2019 in “iScience” In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.
January 2025 in “Haematology International Journal” This study describes a functional disorder in the ovary, known as stromal hyperplasia, characterized by the proliferation of ovarian stroma and luteinization of stromal cells, which is linked to excessive androgen production and elevated testosterone levels.
2 citations
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August 2020 in “JCRPE” This case report describes a girl with Denys-Drash syndrome misdiagnosed with hyperandrogenism due to biotin interference in immunoassays, highlighting the need for awareness of laboratory result discrepancies.
August 2009 in “Mechanisms of Development” Adult hair follicle cells can create new hair follicles from corneal cells with the right support.
277 citations
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July 2002 in “Molecular Endocrinology” In this study, homozygous VDR null mutant mice exhibited nonfunctional vitamin D receptors, leading to growth abnormalities and revealing the limited physiological importance of vitamin D pathways outside the classical receptor.
37 citations
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April 2010 in “FEBS Letters” In this study, researchers reported that the activation of EDA2R by p53 leads to p53-dependent cell death in cancer cells and is involved in chemotherapy-induced hair loss.
32 citations
,
March 2014 in “PLOS ONE” This study demonstrates that FMOD deficiency in mice alters TGF-β ligand and receptor expression during wound healing stages, leading to delayed wound closure and increased scar size.
26 citations
,
December 2020 in “Nature metabolism” Martin-Perez et al. show that rapamycin's beneficial effects in a mouse model of Leigh syndrome are linked to the downregulation of protein kinase C.
22 citations
,
October 2011 in “Bone” This study found that androgen signaling has complex effects on bone formation in male AR3.6-transgenic mice, with varying impacts based on the embryonic lineage of cells.
18 citations
,
August 2018 in “The FASEB journal” This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
14 citations
,
January 2015 in “Hormones and Cancer” This study found that androgen receptor inactivation in male and female mice reduced susceptibility to DMBA-induced skin cancer, but the effect varied by the carcinogenesis model.
8 citations
,
December 2020 in “The FASEB Journal” Blocking adenosine A2B receptor may prevent or treat hearing loss.
7 citations
,
December 2008 in “Journal of Dermatological Science” Progranulin overexpression leads to shorter, thinner hair and increased cell death in mouse hair follicles.
July 2016 in “American Journal of Dermatopathology” The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
610 citations
,
April 2014 in “Nature Reviews Immunology” This review discusses the complex mechanisms regulating skin immunity to balance host defense with inflammation, but reports no new findings.
248 citations
,
November 2011 in “The EMBO Journal” This study found that Wnt1/βcatenin signaling plays a crucial role in activating the epicardium and cardiac fibroblasts, which supports cardiac repair following acute ischemic injury.
123 citations
,
November 2012 in “Stem cells” This study reports that miR-302 promotes pluripotency by inhibiting NR2F2 and indirectly regulating OCT4 in stem cells, enhancing reprogramming efficiency when added to traditional factors.
67 citations
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January 2020 in “Cellular & Molecular Immunology/Cellular & molecular immunology” This review discusses the dual role of tissue-resident memory T cells in providing immune protection against infections and cancer and contributing to autoimmune skin disease pathology, without presenting new experimental results.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
60 citations
,
May 2015 in “Archives of dermatological research” This review discusses the role of peroxisome proliferator-activated receptors and their agonists in dermatology but reports no new clinical results.
56 citations
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April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.
55 citations
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September 2014 in “Development” In this study, mouse sweat gland development relied on a regulatory sequence initiated by Wnt/β-catenin signaling, and disruptions in Wnt, Eda, or Shh pathways led to distinct developmental failures.
48 citations
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June 2020 in “Current Rheumatology Reports” This review explores the diverse roles and heterogeneity of fibroblasts across different organs, highlighting their potential involvement in both normal tissue functioning and fibrotic diseases, but reports no new experimental results.