3 citations
,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” This study reported that knocking out the HR gene in pigs using CRISPR/Cas9 led to hairless eyelids and abnormalities in the thymus and peripheral blood, suggesting pigs as a model for human HR-related hair disorders.
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.
13 citations
,
December 1940 in “The journal of nutrition/The Journal of nutrition” In this study, silver foxes given a yeast "filtrate factor" supplement retained their fur and normal pelts, while those without it experienced fur loss and thymus abnormalities.
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.
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.
7 citations
,
January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that thymus transplantation in athymic mice resulted in T-cell-driven hair follicle depigmentation and loss, without multiorgan autoimmune disease, highlighting mechanisms of tissue-specific tolerance.
86 citations
,
December 2001 in “Experimental dermatology” This review classifies mutant mice with hair abnormalities into six categories, providing an annotated table that serves as a reference for understanding the molecular controls of hair growth.
184 citations
,
September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
8 citations
,
October 2016 in “Experimental dermatology” This paper proposes that the induction of HF-specific neo-antigens by peripheral CD8+ T cells may maintain self-tolerance but could also lead to immunopathology in conditions like alopecia areata.
May 2021 in “Journal of the Endocrine Society” This case study reports a patient with ACTH-driven cortisol secretion 14 years after adrenalectomy, suggesting possible residual adrenal tissue or extra-adrenal steroid synthesis, challenging the need for lifelong steroid replacement.
33 citations
,
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.
374 citations
,
May 2016 in “The Lancet. Diabetes & endocrinology” This article reviews the clinical complications and increased mortality risks associated with Cushing's syndrome but does not present new clinical data; it emphasizes the need for prompt treatment to mitigate these risks.
86 citations
,
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.
69 citations
,
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.
42 citations
,
December 2016 in “Cell Death & Differentiation” This study found that transient mtDNA double strand breaks in mice accelerated aging in certain tissues through increased reactive oxygen species, independent of p21/p53 pathway mediation.
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.
22 citations
,
November 2024 in “Planta” This review highlights the potential of aromatic plants as natural antioxidants in cosmeceuticals, which may combat skin aging and promote rejuvenation by counteracting oxidative stress, offering a natural alternative to synthetic products with benefits like photoprotection and anti-wrinkle effects.
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.
17 citations
,
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.
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.
91 citations
,
May 2003 in “American Journal of Pathology” This study found that prolactin and its receptor are expressed in the murine hair follicle epithelium, influencing hair cycle phases by down-regulating keratinocyte proliferation during anagen and inducing premature catagen.
18 citations
,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” In this mouse study, hair growth defects associated with the Gk5 null allele were partially alleviated by simvastatin treatment, suggesting GK5 plays a key role in skin-specific cholesterol regulation.
17 citations
,
July 1994 in “Journal of Dermatological Science” This article reviews the genetic and potential environmental factors in alopecia areata's pathogenesis and suggests a polygenic model but reports no new clinical findings.
2 citations
,
August 2014 in “Archivos argentinos de pediatría” This report describes a 6-year-old girl with Turner syndrome and coexisting psoriasis, alopecia areata, and trachyonychia, suggesting a potential link between these conditions.
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.
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.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
50 citations
,
December 2005 in “European Journal of Immunology” This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.
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.
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.