610 citations
,
April 2014 in “Nature Reviews Immunology” This review discusses the complex mechanisms regulating skin immunity to balance host defense with inflammation, but reports no new findings.
179 citations
,
July 2016 in “Nature Reviews Molecular Cell Biology” This review examines how epigenetic dysregulation affects adult stem cell function, noting that impacts range from minor to serious disruptions in tissue homeostasis and potential cancer development.
119 citations
,
November 2014 in “Trends in Cell Biology” This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
87 citations
,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
51 citations
,
May 2021 in “Nature Communications” This study found that ablating centrosomes in developing epidermis alters keratinocyte division without majorly affecting differentiation, suggesting early epidermal development is driven by high proliferation and cell delamination.
35 citations
,
January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.
31 citations
,
October 2010 in “Progress in lipid research” This review discusses the role of LPA(3) in embryo implantation and its genetic connection with prostaglandin signaling, but reports no new clinical results.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
25 citations
,
May 2016 in “Progress in Biophysics & Molecular Biology” This article reviews the role of R-spondins and their receptors in bone development and metabolism, highlighting their potential modulatory effects and clinical implications for treating bone loss diseases, but reports no new clinical results.
23 citations
,
February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
14 citations
,
October 2018 in “PloS one” In this study, Far2-/- mice were observed to develop focal alopecia with altered sebaceous gland morphology and lower skin lipid levels compared to wildtype mice.
14 citations
,
February 2018 in “Psychoneuroendocrinology” This study found that male 5α-reductase 2 knockout mice showed deficits in social dominance behaviors and reduced dopamine receptor binding in a brain region related to social ranking.
12 citations
,
June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
3 citations
,
September 2005 in “Experimental dermatology” This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
1 citations
,
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that centrosome ablation in developing epidermis triggers cell surveillance pathways, resulting in thinner skin and halted hair follicle growth, while later stages of epidermal growth may operate independently of basal progenitor division orientation.
1 citations
,
September 2015 in “Elsevier eBooks” This review discusses the role of Sox2 in skin development, hair follicle regeneration, cancer, and wound healing, and reports no new experimental results.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
April 2024 in “Cell death and differentiation” This study discusses how different modes of regulated cell death in keratinocytes affect skin stem cell niches, and their role in skin inflammation, injury repair, and cancer, based on findings from human dermatological conditions and experimental mouse models.
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.
291 citations
,
April 2010 in “Gastroenterology” This study identified Lgr5 and Lgr6 as receptors expressed by small populations of stem cells in various adult organs, with Lgr5+ve cells forming long-lived organoids in certain mouse models.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
138 citations
,
November 2015 in “Journal of Pharmacology and Experimental Therapeutics” This review discusses the mechanisms associated with protoporphyrin IX in living cells and reports no clinical results; the authors emphasize its potential in cancer diagnosis and the risks of toxicity.
137 citations
,
October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
102 citations
,
August 2008 in “Genes & Development” This study found that laminin-511 is crucial for hair morphogenesis in mice, as it influences primary cilia formation and dermal papilla maintenance through noggin and sonic hedgehog signaling.
102 citations
,
July 2007 in “Genes & Development” This study found that maternal PPARγ is essential for preventing the production of inflammatory lipids in mouse milk, which can otherwise cause inflammation, alopecia, and growth retardation in nursing pups.
69 citations
,
June 2017 in “Experimental Biology and Medicine” This review discusses the advancements and challenges in developing in vitro human skin models incorporating components like vasculature for drug testing and disease research, but reports no new clinical results.
65 citations
,
March 2018 in “Journal of Dermatological Science” This review discusses the role of mechanical forces in skin homeostasis and disease development, including their impact on conditions like keloids, androgenetic alopecia, and acral melanoma, and reports no clinical results; the authors propose modifying these forces as a potential therapeutic strategy.
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.