218 citations
,
October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that removing PPARγ specifically from mouse adipose tissue led to severe fat loss, insulin resistance, diabetes, and associated metabolic abnormalities.
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.
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.
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.
30 citations
,
January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
30 citations
,
April 2010 in “Cell Cycle” This review discusses how the p53 tumor suppressor gene helps maintain adult tissue homeostasis by promoting the removal of DNA-damaged cells, with implications for treating age-related diseases and p53-deficient cancers; it reports no new results.
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.
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.
55 citations
,
March 2015 in “Carcinogenesis” This study found that WNT10A is significantly upregulated in human esophageal squamous cell carcinoma and is associated with enhanced tumor cell migration, invasion, and poor survival.
30 citations
,
October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
8 citations
,
June 2024 in “APOPTOSIS” In this review, researchers discussed recent insights into caspases, enzymes initially associated with cell death and inflammation, revealing their broader roles in cell proliferation, migration, and differentiation, and highlighting the importance of caspase knock-out mice for understanding their implications in diseases.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
29 citations
,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
24 citations
,
January 2008 in “KARGER eBooks” This review discusses recent advances in understanding the pathogenesis of autoimmune alopecia areata and reports no new clinical results; it highlights potential for developing more effective treatments.
23 citations
,
September 2018 in “Dermatologic Therapy” This article explains that skin microneedling promotes skin regeneration by creating microinjuries, which stimulate collagen and elastin production, making it effective for treating various skin issues with high effectiveness, limited side effects, and a short recovery time.