6 citations
,
May 2013 in “PloS one” This study found that the Foxn1(-/-) nude phenotype significantly influences epithelial progeny in skin, with notable changes in stem cell niches not achievable in other models.
3 citations
,
May 2019 in “BMJ case reports” This report describes a rare case of severe combined immunodeficiency caused by a FOXN1 gene variant, complicated by Epstein-Barr virus infection and high-grade B-cell lymphoma, leading to the infant's death despite treatment efforts.
103 citations
,
January 2011 in “Blood” This study found that thymus transplantation in infants with FOXN1 deficiency led to T-cell reconstitution and functional immunity, resolving serious infections and cytopenias.
August 2004 in “Journal of the American College of Surgeons” Dermagraft and Dermalogen had a lot of granulation, while Alloderm, Integra, and ADM had good blood vessel growth for skin healing.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” In this study, peptide-based nanoparticles were successfully used to deliver the CRISPR-Cas9 system into cancer cells, effectively targeting and editing KRAS mutations, suggesting promising therapeutic potential for cancer treatment.
36 citations
,
October 1996 in “Dermatologic Clinics” In this study, a methanol extract of Eclipta alba was found to have dose-dependent hair growth-promoting activity in C57BL6 mice.
April 2026 in “Laboratory Animal Research” This study developed a novel Hairless Rag2/Jak3 KO mouse model, which provides superior optical properties and thinner skin compared to existing models, enhancing its utility for noninvasive tumor monitoring and evaluation of anticancer therapies.
50 citations
,
February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
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.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
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.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
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.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
5 citations
,
February 2019 in “PloS one” This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.
4 citations
,
December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
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.
2 citations
,
November 2015 in “Actas Dermo-Sifiliográficas” This review discusses the characteristics and potential applications of epidermal stem cells in dermatology, without providing new clinical results.
2 citations
,
April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
1 citations
,
January 2016 in “Elsevier eBooks” This review examines the origins and mechanisms of tumor initiation in common skin cancers, but does not present new experimental findings; it emphasizes the need for further research on cancer stem cells.
1 citations
,
February 2009 in “Journal of Investigative Dermatology” This review discusses insights into the role of lipase H in controlling hair form and texture, emphasizing genetic mutations linked to autosomal recessive woolly hair/hypotrichosis, and reports no new experimental results.
November 2023 in “Scientific Reports” In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.
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.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
December 2023 in “Communications biology” This study found that inhibiting the HEDGEHOG-GLI1 pathway could reduce keloid size and gene expression, suggesting it as a potential therapeutic target for keloid pathogenesis.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.