32 citations
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July 2017 in “Oncotarget” This study found that intermittent treatment with FTI lonafarnib and sulforaphane may be a promising therapeutic approach for children with Hutchinson-Gilford progeria syndrome, as it improved the cellular phenotype.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
164 citations
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December 1984 in “Proceedings of the National Academy of Sciences” This study found that TCDD significantly reduced EGF receptor binding in various animal models, linked to toxic symptoms like weight loss and developmental delays, with receptor phosphorylation persisting several days.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study discovered that the gene Tfap2b identifies a melanocyte stem cell population in zebrafish, essential for regenerating melanocytes with multi-fate potential into adult pigment cells.
12 citations
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January 1999 in “Journal of Animal Science” This study observed that combined treatment with thyroxine and hydrocortisone increased lipid accretion and fat cell development in hypophysectomized fetal pigs, suggesting a key role of these hormones in fetal adipogenesis.
161 citations
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June 1993 in “Journal of Biological Chemistry” This study suggests that human trichohyalin may function as a flexible rod linking keratin intermediate filaments and as a scaffold protein in hair follicle and epidermis cell envelopes.
284 citations
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May 2002 in “Proceedings of the National Academy of Sciences” In vitro, this study suggests that CRH may act as an autocrine hormone in human sebocytes, influencing lipid synthesis and potentially impacting skin disorders related to alterations in sebaceous lipid formation.
104 citations
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October 2016 in “PLoS ONE” This study found that CRISPR/Cas9-mediated disruption of the FGF5 gene in goats increased hair follicle numbers and fiber length, suggesting more cashmere production could be achieved.
44 citations
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May 2023 in “MedComm” This review highlights the potential of PROTAC technology in drug discovery for previously undruggable targets, particularly in cancer therapy, while emphasizing the urgent need to discover more E3 ligase recruiters to optimize targeted protein degradation.
May 2022 in “The journal of immunology/The Journal of immunology” This study developed a foxn1-deficient Xenopus laevis model using CRISPR/Cas9, observing reduced T-cell markers and altered immune responses in tadpoles, providing a nonmammalian model for immunological research.
This study identified a high proportion of dual TCR Treg cells in both lymphoid and non-lymphoid tissues of mice, revealing their tissue specificity, TCR repertoire characteristics, and functional phenotypes.
2 citations
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July 2024 in “International Journal of Molecular Sciences” In this study, researchers found that knocking down the transcription factor Csdc2 inhibited the proliferation of dermal papilla cells in cashmere goats, and identified its regulatory relationship with the gene Robo2, providing insights into the genetic mechanisms influencing cashmere fiber growth.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a mutation in the CST6 gene linked to a rare syndrome with symptoms affecting hair and skin, revealing cystatin M/E's role in maintaining epidermal homeostasis and hair follicle development.
January 2006 in “Chieh P'ou Hsueh Pao” In this study, the researchers observed that transfecting hair follicle cells with an amino-terminal truncated beta-catenin gene significantly increased cell proliferation, potentially by enhancing c-myc gene expression.
6 citations
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October 2012 in “Journal of Heredity” This study identified the Itpr3 gene as responsible for the tufted hair loss phenotype in the BTBR mouse strain.
May 2025 in “BMC Genomics” This study found that circ 0020938 suppresses hair follicle stem cell proliferation by interacting with the miR-142-5p/DSG4 axis, which aids in the hair follicle cycle's proper progression.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
4 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.
17 citations
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June 2019 in “The journal of immunology/The Journal of immunology” This study identified a regulatory element necessary for Foxn1 expression specifically in mouse thymic epithelial cells, crucial for thymus development but not affecting hair follicles.
1 citations
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September 2025 in “Frontiers in Immunology” In this study, researchers using a Treg-specific HuR-deficient mouse model found that the RNA-binding protein HuR is crucial for stabilizing Foxp3 mRNA, affecting Treg function and immune regulation, with HuR disruption leading to impaired Foxp3 expression and potential autoimmune dysfunction.
100 citations
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March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that cystatin M/E strongly inhibits human cathepsin V and cathepsin L via distinct non-overlapping sites, suggesting an important role in human epidermal differentiation and hair follicle morphogenesis.
37 citations
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December 2020 in “PLANT PHYSIOLOGY” In this study, the researchers identified a temperature-sensitive mutant in Arabidopsis thaliana, showing disrupted root hair formation and altered responses to plant hormone treatments at elevated temperatures.
December 2022 in “Frontiers in plant science” This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.
92 citations
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July 2001 in “The FASEB Journal” In this study, transgenic mice overexpressing the glucocorticoid receptor in certain epithelia showed skin development abnormalities resembling ectodermal dysplasia and exhibited reduced inflammatory responses.
60 citations
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September 2023 in “Science” This study found that the restoration of CD103⁺γδ T cells in humans is associated with sustained remission in inflammatory bowel disease, suggesting a conserved role for these cells in limiting disease progression.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
August 2019 in “International journal of dermatology and venereology” This review discusses the calcineurin/NFAT pathway's role in cutaneous squamous cell carcinoma, noting its involvement in tumor development, skin cell behavior, and the tumor microenvironment; it reports no new results.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.