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.
53 citations
,
August 2019 in “American journal of human genetics” This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
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.
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.
19 citations
,
March 2017 in “Scientific Reports” This study suggests that the protease HAT-L4 plays a significant role in maintaining epidermal barrier function to prevent body fluid loss, as its absence in mice led to increased fluid loss and higher mortality.
17 citations
,
June 2019 in “The journal of immunology/The Journal of immunology” This study identified a regulatory element necessary for Foxn1 expression specifically in mouse thymic epithelial cells, crucial for thymus development but not affecting hair follicles.
16 citations
,
March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.
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.
7 citations
,
January 2023 in “Frontiers in cell and developmental biology” This study found that Celsr1, not Celsr2, is the primary protein involved in establishing planar cell polarity and hair follicle polarization in the epidermis of mice.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
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.
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that in growing skin tissue, epidermal wound healing occurs at the expense of normal skin development, as it impairs hair follicle growth and does not activate tissue morphogenesis genes.
January 2010 in “The Year book of perinatal/neonatal medicine” Early skin biopsy helps diagnose and manage severe skin conditions in babies.
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."
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.
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.
17 citations
,
August 2019 in “Archives of Cardiovascular Diseases” In this study, the authors observed that testosterone therapy shortened the QTc interval and normalized T-wave morphology in men with acquired LQTS or TdP linked to hypogonadism, suggesting testosterone may be helpful in treatment.
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.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
22 citations
,
July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
1 citations
,
May 2024 in “Journal of Dermatological Science” In this study, KC-AD-MSCs were found to increase COL7 deposition and anchoring fibril formation at the dermal-epidermal junction in a RDEB mouse model, suggesting potential for improving skin integrity in recessive dystrophic epidermolysis bullosa patients.
October 2023 in “Pediatric dermatology” This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.
78 citations
,
October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
39 citations
,
September 2007 in “BMC developmental biology” This study found that Neuregulin3 can influence the development and differentiation of mammary glands and epidermal features in mice, potentially by inducing c-Myc and altering cell proliferation and adhesion.
1 citations
,
April 2023 in “International journal of molecular sciences” In this study, AMACO was found to be non-essential for the formation or function of anchoring cords in mice, despite its presence in the structure.
60 citations
,
July 2018 in “Circulation” This study found that hypogonadism in men can be a reversible risk factor for torsades de pointes (TdP), with testosterone replacement potentially preventing TdP recurrence.
55 citations
,
October 2008 in “American Journal Of Pathology” mIGF-1 in skin cells speeds up wound healing and hair growth in mice without harmful effects.
117 citations
,
April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
32 citations
,
January 2010 in “Journal of Dermatological Science” In this study, Waved-5 mice with reduced EGFR signaling showed nearly normal skin and hair follicle function but experienced a transient reduction in subcutaneous fat.