January 2012 in “Infoscience (Ecole Polytechnique Fédérale de Lausanne)” This study demonstrated that the human thymus contains clonogenic thymic epithelial cells capable of self-renewal and maintaining a thymic phenotype in a specific culture system.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
4 citations
,
July 2024 in “BMC Zoology” This study found that the structure and mineral content of dromedary camel hair, specifically the medulla patterns, medulla index, and elemental composition, change with age, revealing differences among camels aged 1 year, 3-5 years, and 8-10 years.
65 citations
,
September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
68 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
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.
18 citations
,
August 2018 in “The FASEB journal” This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.
1 citations
,
January 2019 in “Elsevier eBooks” This chapter reviews the use of electrospun matrices in creating tissue-engineered skin substitutes and reports no new clinical results; it emphasizes the need for a cell-friendly microenvironment.
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.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
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.
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.
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.
6 citations
,
January 2017 in “Advances in Experimental Medicine and Biology” This review discusses the complex role of Runx family genes in regulating stem cells in blood and skin tissues and reports no new experimental results.
January 2008 in “Durham e-Theses (Durham University)” This study observed that stem cells from the hair follicle dermis share similarities with bone marrow-derived mesenchymal stem cells and have potential to form neural-like cells under specific conditions.
354 citations
,
February 2011 in “Genes & Development” This study found that abolishing H3K27me3 in mouse skin by targeting Ezh2 and Ezh1 affects hair follicle development and epidermal behavior, revealing functional differences between these tissues.
122 citations
,
June 2002 in “Genes & Development” This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
111 citations
,
January 2007 in “Seminars in cell & developmental biology” This article reviews the similarities in early development processes of hair follicles, teeth, and mammary glands and reports no new experimental findings.
73 citations
,
June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
21 citations
,
April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
11 citations
,
March 2001 in “Clinics in Dermatology” This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.
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.
1 citations
,
March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
October 2025 in “HAL (Le Centre pour la Communication Scientifique Directe)” This research observed that, in domestic cats like Maine Coon and Rex breeds, a "piebald" coat color pattern is likely influenced by the Silver locus, although the specific mutations involved are yet to be published.
January 2015 in “Springer eBooks” Hair health is influenced by genetics, aging, and environmental factors, with proper care needed to maintain it.
1 citations
,
April 2008 in “Pigment Cell & Melanoma Research” This study suggests that Foxn1 expression in keratinocytes influences pigmentation in mice, highlighting differences in the molecular mechanisms between mouse and human pigmentation processes.
46 citations
,
November 1998 in “Experimental Cell Research” This study found that K15 is variably expressed in sheep and mouse hair follicles, with specific patterns suggesting a role in the early stages of keratinocyte differentiation.