28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that overexpression of β-catenin in bipotent Schwann-cell precursors promotes melanocyte development in limb areas by inducing MITF and repressing FoxD3, especially during a specific developmental timeframe.
54 citations
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December 1999 in “Journal of Investigative Dermatology Symposium Proceedings” 467 citations
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May 1999 in “Molecular Cell” In this study, activation of c-MycER in adult mouse epidermis rapidly induced proliferation and disrupted keratinocyte differentiation, causing changes similar to precancerous lesions, which regressed once c-MycER was deactivated.
This study found that inhibiting apoptosis during hair follicle regression in mice disrupted hair regeneration, causing delays and alterations in stem cell niche architecture and associated tissue remodeling processes.
81 citations
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November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study identified altered mRNA and lncRNA profiles in NS scalp tissues, highlighting CDKN2AIP as a downregulated gene involved in a ceRNA network.
42 citations
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November 2002 in “The American journal of pathology” This study observed that nuclear β-catenin expression in non-small-cell lung carcinomas correlates with increased proliferation and loss of key cell-cycle checkpoints, suggesting an oncogenic advantage.
June 2002 in “Science of aging knowledge environment” This study suggests that the oncogene c-Myc can induce DNA damage by increasing reactive oxygen species, potentially overriding p53 and contributing to genetic instability in cancer cells.
January 2006 in “Chieh P'ou Hsueh Pao” This study established a method for selecting human hair follicle stem cells through quick-adherence to collagen, and found that β-catenin plays a role in their proliferation and differentiation.
39 citations
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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.
7 citations
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January 2023 in “Frontiers in Cell and Developmental Biology” This review provides a comprehensive overview of apoptosis-related molecules in head development, highlighting caspases' roles and associated abnormalities in tissues like the brain, sensory organs, skin, and bones, without reporting new results.
11 citations
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August 2019 in “Journal of Molecular Histology” This study found that upregulation of NFIC may enhance proliferation and osteogenic/cementogenic differentiation in rat dental follicle cells.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
April 2026 in “Institutional Repositories DataBase (IRDB)” This study investigated human hair follicle bulge cells and found that those with reduced CD200 expression exhibited enhanced hair regenerative capability, refining the functional understanding of bulge cell heterogeneity and providing insights for optimizing bulge cell–based hair regeneration techniques.
1 citations
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July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
11 citations
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January 2012 in “Journal of cell science” This study demonstrates that Rac1 activity is essential for normal hair follicle formation but influences hair structure and pigmentation, in terminal differentiation, through alterations in hair shaft, cuticle, and pigmentation organization.
April 2019 in “Journal of Investigative Dermatology”
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.
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.
64 citations
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
16 citations
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March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.
138 citations
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June 2004 in “Journal of Investigative Dermatology” This review discusses the regulation of involucrin gene expression, focusing on transcription factors and signaling pathways, and reports no new experimental findings.
76 citations
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May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.
25 citations
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May 1994 in “Journal of Investigative Dermatology” This study identified a novel gene, hacl-1, that is specifically expressed in the hair follicles of ICR mouse skin and is associated with their active state.
26 citations
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May 2007 in “Differentiation” This study suggests that Foxn1 acts as a brake on PKC signaling in keratinocytes, thereby modulating the stages of differentiation by controlling PKC activity.
4 citations
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February 2008 in “Cell stem cell” NFATc1 is crucial for keeping hair follicle stem cells inactive.