688 citations
,
June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
111 citations
,
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.
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.
12 citations
,
May 2017 in “Pharmacology & therapeutics” This review discusses the mechanisms underlying immune tolerance failure in alopecia areata and highlights potential therapeutic avenues for restoring hair growth and achieving sustained remission, but reports no new clinical results.
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.
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.
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
48 citations
,
May 1991 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that trichohyalin, a protein previously thought to be restricted to hair and tongue, is also present in isolated cells within the granular layer and stratum corneum of normal human epidermis.
December 2009 in “Saengmyeong gwahag hoeji/Saengmyeong gwahak hoeji” This study observed that thymosin beta 4 and VEGF have similar expression patterns in various human tissues, suggesting a role in angiogenesis and organ function.
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.
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
,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.
3 citations
,
March 2020 in “International Journal of Molecular Sciences” This study found that overexpressing the gene Thymosin β4 (Tβ4) can promote the growth and development of secondary hair follicle dermal papilla cells in cashmere goats, suggesting its potential as a target for increasing cashmere production.
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.
60 citations
,
March 2011 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that RANK-RANKL signaling regulates hair renewal and epidermal homeostasis in mice, revealing its role in initiating hair growth cycles and maintaining skin cell activity.
11 citations
,
June 2022 in “Frontiers in immunology” This review discusses the challenges in identifying specific hair follicle antigens involved in initiating alopecia areata and highlights the need for further research to understand its etiopathogenesis, reporting no new results.
11 citations
,
July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
8 citations
,
August 2009 in “Pediatric transplantation” This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.
1 citations
,
March 2024 in “Signal transduction and targeted therapy” In this review, researchers explored the multifaceted role of NF-κB signaling in various biological processes and diseases, including its interactions with other pathways, and discussed possible therapeutic approaches targeting this pathway for treating conditions like cancer, autoimmune disorders, and COVID-19.
1 citations
,
January 2015 in “Advanced techniques in biology & medicine” This study found that among patients with Down syndrome, those with alopecia areata may have increased antiperoxidase antibodies, possibly linked to hypothyroidism.
April 2026 in “Frontiers in Cell and Developmental Biology” This study found that PGRP-S expression in mouse epidermis is specific to certain hair follicle epithelia, depending on the skin region, and can be transiently induced in flank skin hair follicle epithelium after exposure to Staphylococcus aureus, suggesting a role in environmental surveillance.
January 2019 in “Przegląd Dermatologiczny” This case report describes an 87-year-old woman diagnosed with type 3 autoimmune polyendocrine syndrome, highlighting the importance of recognizing and managing coexisting autoimmune conditions.
82 citations
,
March 2016 in “Autoimmunity reviews” This review explores animal models of alopecia areata, particularly focusing on the insights they've provided into the disease's immune mechanisms and potential treatment approaches, without reporting new experimental data.
62 citations
,
January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
56 citations
,
January 2021 in “Clinical and Experimental Medicine” This review highlights the challenges in treating alopecia areata, noting that current therapies often lead to relapse and have uncertain long-term effectiveness; it also points to potential future treatments such as JAK-STAT inhibitors and PRP.
36 citations
,
August 2021 in “Nature Cell Biology” This review discusses the potential of organoids in modeling COVID-19 disease and developing therapies, without reporting new results, and highlights opportunities and challenges in their application for research.
31 citations
,
May 2021 in “Journal of endocrinological investigation” This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.
8 citations
,
October 2019 in “Immunological investigations” This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.
6 citations
,
November 2021 in “Frontiers in immunology” This study suggests that STAT3 signaling in keratinocytes is crucial for maintaining skin homeostasis by regulating hair follicle-specific keratin genes, potentially impacting dermatitis development through microbe-triggered inflammatory responses.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.