32 citations
,
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.
46 citations
,
November 2022 in “The Journal of Dermatology” This review discusses recent findings on the mechanisms driving bullous pemphigoid, highlighting epitope spreading and the roles of regulatory T cells, and reports no new experimental results.
September 2013 in “Helda (University of Helsinki)” This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.
125 citations
,
September 2019 in “Journal of Clinical Immunology” This review summarizes recent advances in Treg cell biology, focusing on Foxp3's role in immune regulation and therapeutic reprogramming for immune dysregulatory disorders, but reports no new clinical results.
22 citations
,
April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
3 citations
,
March 2017 in “International journal of women’s dermatology” This review discusses genetic skin diseases in humans and animals, offering a resource for memorization and exploring animal models' role in understanding human disease mechanisms; it reports no new clinical results.
October 2025 in “International Journal of Advanced Multidisciplinary Research and Studies” This study found that hairless dog breeds have adapted to maintain normal body and core temperatures through structural changes like a thicker epidermis and the role of melanin in thermoregulation, with genetic mechanisms involving the FOXI3 gene governing hairlessness.
82 citations
,
October 2019 in “Frontiers in Immunology” This review discusses the features of regulatory T cells and the modulation of Foxp3, emphasizing post-translational modifications' impact on Treg function but reports no new clinical results.
1 citations
,
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.
30 citations
,
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.
30 citations
,
July 2019 in “PloS one” This study found that T-regulatory cells, specifically the FOXP3 CD39 subset, were significantly reduced in both circulation and hair follicles of alopecia areata patients compared to healthy subjects, suggesting potential therapeutic targets.
April 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that human skin melanocytes with low mutation burdens are smaller, less dendritic, and exhibit stem-like features, often residing in UV-protected hair follicles, suggesting their role in replenishing sun-damaged epidermis.
16 citations
,
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.
14 citations
,
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.
556 citations
,
September 2008 in “Genes & Development” This review summarizes how genetic studies using conditional β-catenin loss- and gain-of-function mice have advanced understanding of canonical Wnt signaling's role in embryonic development, adult stem cell maintenance, and cancer modeling.
26 citations
,
February 2021 in “FEBS Journal” This review discusses potential immune therapies targeting regulatory T cells for age-related diseases and emphasizes the need for further research to translate these therapies into clinical practice.
43 citations
,
February 2013 in “Developmental dynamics” This study found that Eda and activin A regulate Foxi3 expression, which may contribute to the development of hypohidrotic ectodermal dysplasia by affecting Foxi3 activity in ectodermal appendages like hair and teeth.
9 citations
,
March 2022 in “Frontiers in Immunology” This review discusses the roles and mechanisms of tissue-resident regulatory T cells in immune regulation and tissue homeostasis, but reports no new experimental results.
16 citations
,
April 2018 in “Animal Genetics” This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.
130 citations
,
November 2017 in “Frontiers in Immunology” This review explores recent findings on regulatory T cells, focusing on their unique functions in non-lymphoid tissues and new mechanisms of action, but presents no original clinical results.
24 citations
,
March 2018 in “Experimental Dermatology” This review explores the role of regulatory T cells in autoimmune skin disorders like alopecia areata and vitiligo, emphasizing unanswered questions and reporting no new experimental results.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
110 citations
,
July 2017 in “Immunology” This review discusses the role of regulatory T cells in skin, including their impact on hair follicle regeneration, wound healing, and immune tolerance, without presenting new clinical findings.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
22 citations
,
July 2015 in “PloS one” This study found that Foxp1, a transcriptional factor, plays a key role in regulating hair follicle stem cell proliferation by modulating oxidative stress and the cell cycle during hair growth phases.
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.
9 citations
,
October 2017 in “Archivos Argentinos de Pediatria” This review discusses the clinical features, diagnosis, and treatment of alopecia areata, while investigating potential genetic, environmental, and immunological factors involved in its etiology, but reports no new findings.
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.
4 citations
,
May 2021 in “The American Journal of Surgical Pathology” This study suggests that cutaneous lymphadenoma is a distinct benign lymphoepithelial tumor characterized by androgen receptor expression, hair follicle stem cell markers, and common EGFR gene mutations.
46 citations
,
August 2022 in “Animals” This study identified key genes and miRNAs involved in feather morphogenesis in Zhedong White geese, highlighting a negative correlation between FOXO3 and miR-144-y.