30 citations
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January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
17 citations
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June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
16 citations
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October 2014 in “Cell death and disease” This study found that over- and ectopic-expression of FoxN1 in early life negatively affected the development of thymic epithelial cells, T and B cells, and skin epithelial cells.
November 2020 in “International journal of contemporary pediatrics” This study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.
1 citations
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April 2008 in “Pigment Cell & Melanoma Research” This study suggests that Foxn1 expression in keratinocytes influences pigmentation in mice, highlighting differences in the molecular mechanisms between mouse and human pigmentation processes.
32 citations
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May 2012 in “PloS one” This study found that despite the persistence of aberrant double-negative T-cells, functional immune-competence was maintained after thymic transplantation in a patient with a rare FOXN1 mutation.
54 citations
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October 2007 in “The FASEB Journal” This study suggests that hairlessness in nude mice may be due to insufficient expression of phospholipase C-δ1, a molecule essential for normal hair development downstream of the Foxn1 gene.
April 2018 in “Journal of Investigative Dermatology” This study found that ERBB2 mutations and amplifications are likely key drivers of extramammary Paget disease, suggesting potential for targeted therapies and cancer immunotherapy due to the moderately high mutational load observed.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
9 citations
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March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This study examined 16 sporadic trichoblastic tumors and found that although one showed malignant transformation, clinical follow-up revealed no residual or metastatic disease. RNA sequencing indicated a high tumor mutational burden and absence of a UV-related signature, helping to distinguish these tumors from similar growths.
41 citations
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October 2001 in “Experimental Dermatology” This review discusses the molecular and functional aspects of the nude gene in skin biology, providing insights into its role and evolutionary development, but reports no new results.
35 citations
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August 2009 in “Differentiation” This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.
30 citations
,
October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
58 citations
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November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mutations in the Foxn1 gene in nude mice affect not only hair but also nail structure and differentiation, offering insights into nail hypergranulosis pathogenesis relevant to human nail diseases.
11 citations
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March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that hair loss in an Olmsted syndrome mouse model with a Trpv3 mutation was linked to premature keratinocyte maturation, affecting hair follicle structure and function.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.
69 citations
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January 2013 in “Frontiers in Immunology” This review summarizes existing knowledge on the role of FOXN1 as a key regulator of thymic epithelial cell lineage and function, reporting no new experimental results.
68 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.
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.
86 citations
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October 2005 in “Experimental Dermatology” This review explores the role of Foxn1 in mammalian skin biology, discussing its influence on hair follicle function and the potential for further research to enhance understanding of epithelial differentiation.
99 citations
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December 2010 in “Journal of The European Academy of Dermatology and Venereology” This article discusses the association of acne with various systemic diseases, emphasizing the role of androgen steroids, insulin resistance, and inflammation in acne pathogenesis, but it reports no new clinical results.
This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.
December 2022 in “Scientific Reports” This study found that transplanted hair follicle-associated pluripotent stem cells in mice differentiated into keratinocytes and stimulated hair growth by producing mature hair shafts.
This study suggests that specific genetic changes, including mutations in protein-coding genes and noncoding regions, have contributed to the evolution of hairlessness in multiple mammalian species.
27 citations
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January 2000 in “Developmental Dynamics” This study reports that a new nude allele, nu(StL), encodes a truncated Whn transcription factor affecting T-cell development and keratin gene expression, with notable differences from the original Whn(nu) mutation.
33 citations
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September 2017 in “Journal of clinical immunology” This review summarizes recent findings on FOXN1's essential role in thymus and skin biology and discusses emerging therapeutic approaches for immune disorders with athymia, but reports no new clinical results.
95 citations
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July 2010 in “Genes & development” In this study, the researchers reported that Notch/CSL signaling is crucial for hair follicle differentiation, with Wnt5a signaling and FoxN1 acting as mediators in mice.