21 citations
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November 2010 in “Journal of molecular medicine” This study found that deleting FoxN1 in specific thymic epithelial cells disrupted the 3D thymic structure and led to age-dependent formation of 2D epithelial cysts, highlighting FoxN1's critical role in thymic morphogenesis.
41 citations
,
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.
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.
This study found that genetic ablation of Tslp in an AEC mutant mouse model reduced skin inflammation and improved survival, suggesting potential therapeutic benefits for AEC syndrome patients.
April 2010 in “The journal of immunology/The Journal of immunology” This study found that deleting the FoxN1 gene in mice disrupted the 3D thymic epithelial structure and led to 2D epithelial cysts, revealing its crucial role in thymus organization but not causing athymia.
9 citations
,
January 1975 in “PubMed” In this study, researchers using a mouse model found that the hairlessness in nude mice is likely due to a shared defect in the thymus and skin, not thymic dysgenesis alone.
9 citations
,
September 2022 in “Journal of Clinical Investigation” In this study, mouse models of 22q11.2 deletion syndrome showed that growth issues in small embryonic thymuses were linked to mesenchymal cells, which could be corrected by substituting with normal mesenchyme.
75 citations
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April 2000 in “Developmental Dynamics” This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.
111 citations
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June 2002 in “The EMBO Journal” This study found that overexpression of Smad7 in transgenic mice led to severe alterations in multiple epithelial tissues, resulting in early death after birth.
17 citations
,
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.
56 citations
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February 2010 in “PLOS ONE” This study demonstrates that canonical Wnt signaling is crucial for maintaining thymic epithelial microenvironments in postnatal thymus, possibly by affecting TEC progenitor cells.
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.
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.
27 citations
,
July 2017 in “Scientific Reports” This study found that conditional knockout of N-WASP in keratinocytes of mice led to skin barrier defects, increased immune cell infiltration, and hyperproliferation of keratinocytes, indicating its crucial role in skin homeostasis.
301 citations
,
May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, early prenatal treatment with Minoxidil, a lysyl hydroxylase inhibitor, partly improved cardiac outflow tract septation in Tbx1 mutant mice, suggesting that inhibiting collagen cross-linking may mitigate some effects of Tbx1 mutation associated with DiGeorge syndrome.
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.
69 citations
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August 1999 in “Developmental biology” This study found that ectopic expression of Whn in transgenic mice caused impaired differentiation in epidermis and hair follicles, with hair growth defects and severe urinary tract issues leading to hydronephrosis.
5 citations
,
January 2022 in “PloS one” This study found that lineage-restricted loss of p63 in murine thymic epithelial cells resulted in severe thymic hypoplasia and absence of hair follicles, indicating p63's critical role in thymic and hair follicle development.
1 citations
,
July 2025 in “Journal of Human Immunity” This study found that administering minoxidil and PGE2 to pregnant mice with 22q11.2 deletion syndrome models corrected multiple developmental anomalies, including thymus growth and parathyroid positioning, by targeting prenatal mesenchymal differentiation.
134 citations
,
January 2011 in “Development” This study found that disrupting Adam10 in the epidermis led to severe skin and multi-organ abnormalities, implicating Adam10 as crucial for proper Notch signaling and skin maintenance.
53 citations
,
August 2019 in “American journal of human genetics” This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
42 citations
,
March 2008 in “Molecular and Cellular Endocrinology” This review explores the potential (neuro-)endocrine influences on hair follicle epithelial stem cell biology and emphasizes the need for more systematic research, but it provides no new empirical results.
16 citations
,
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.
9 citations
,
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.
December 2021 in “Signal transduction and targeted therapy” This study found that serum levels of NF-L and GFAP decreased but tau protein levels did not change in anorexia nervosa patients after short-term partial weight restoration.
April 2003 in “Experimental Dermatology” This workshop review from the Australian Hair and Wool Research Society discusses findings in cutaneous biology and endocrinology but presents no new research results.
50 citations
,
January 2016 in “The FEBS journal” This review discusses the various roles of RANK signaling in bone remodeling, immune function, and epithelial differentiation, highlighting its potential involvement in cancer mechanisms; it reports no new clinical results.
87 citations
,
January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
24 citations
,
February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.