19 citations
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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.
This chapter reviews current and future strategies for identifying ligands and functions of orphan G protein-coupled receptors, but it reports no new experimental results.
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.
May 2015 in “Journal of Investigative Dermatology” In this study, Wnt-3a was found to play an important role in partially maintaining and expanding epithelial skin stem cells in vitro, suggesting potential for in vitro stem cell culture without feeder cells.
87 citations
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September 2019 in “Nature Communications” In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.
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.
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.
9 citations
,
July 2011 in “Scientific Reports” This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.
8 citations
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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.
6 citations
,
February 2013 in “Journal of Visualized Experiments” This study introduces a method using lentiviral delivery in mice to expedite analysis of factors crucial for hair follicle morphogenesis by enabling rapid gain- or loss-of-function studies.
2 citations
,
August 2023 in “Development” In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This research found that the microtubule catastrophe factor KIF18B plays a crucial role in promoting spindle orientation in keratinocytes, linking this process to cell fate decisions during hair follicle morphogenesis.
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.
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."
85 citations
,
August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
23 citations
,
December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
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.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.
November 2022 in “Journal of Investigative Dermatology” This study found that ILC1-like cells can induce alopecia areata in healthy human hair follicles, challenging the traditional belief that the disease is primarily driven by CD8+ T cells.
37 citations
,
November 2017 in “Medical Sciences” This study suggests that melanoma tumor cells exhibit intrinsic plasticity, challenging the applicability of the cancer stem cell model to this malignancy.
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.
99 citations
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October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
78 citations
,
October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
65 citations
,
November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
60 citations
,
September 2023 in “Science” This study found that the restoration of CD103⁺γδ T cells in humans is associated with sustained remission in inflammatory bowel disease, suggesting a conserved role for these cells in limiting disease progression.
3 citations
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April 2022 in “Frontiers in Physiology” This study found that loss of the Ptch2 receptor in mice leads to increased incisor growth and enhanced mesenchymal stem cell differentiation, highlighting Ptch2's role in organ regenerative potential.
March 2026 in “JID Innovations” In a mouse model study, researchers found that mutations in Aire reduced alopecia areata frequency, while Notch4 mutations did not lead to the disease, likely due to proximity with a resistance gene.
1 citations
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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.
January 2026 in “Aging and Disease” This study found that, despite confirming MC1R expression and functional cAMP signalling, α-MSH treatment did not alleviate UVA-induced stress in adult dermal fibroblasts, suggesting that α-MSH-MC1R may not directly protect against UVA-induced photoaging in these cells.