2 citations
,
July 2025 in “Analytical Chemistry” This study reported the development of a workflow that combines SIMS and X-ray elemental mapping techniques for multimodal imaging at the single cell level, successfully applied to visualize elements, metals, and lipids in porcine skin without loss or delocalization.
2 citations
,
June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
5 citations
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December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
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.
9 citations
,
August 2002 in “British journal of ophthalmology” This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.
58 citations
,
December 2000 in “Experimental Dermatology” This study found that new rabbit antisera against recombinant mouse involucrin effectively marked keratinocyte differentiation, with comparable expression patterns to human involucrin.
6 citations
,
January 2022 in “Lara D. Veeken” This narrative review discusses the role and importance of rheumatologists in managing autoimmune interstitial lung disease and emphasizes the need for enhanced collaboration with respiratory physicians to improve diagnosis, management, and outcomes; no new clinical results are reported.
April 2018 in “Journal of Investigative Dermatology” In this study using a transgenic mouse model, Id2 overexpression in hair follicle stem cells prolonged quiescence by affecting gene expression, partly independent from BMP signaling.
226 citations
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May 2004 in “Journal of Biological Chemistry” This study identified collagen XXII as a novel extracellular matrix protein specifically present at tissue junctions, where it functions as a cell adhesion ligand for skin epithelial cells and fibroblasts.
14 citations
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January 2023 in “Nature Immunology” iNKT cells help develop and maintain healthy skin in young mice.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.
56 citations
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October 2007 in “Journal of Biological Chemistry” This study concluded that dilated cardiomyopathy in Ctsl-deficient mice is mainly due to the lack of cathepsin L in cardiomyocytes, with additional heart stress from the fur defect.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
29 citations
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March 2010 in “Journal of Endocrinological Investigation” In this study, women with polycystic ovary syndrome had significantly higher lipocalin-2 levels compared to controls, suggesting it may be a useful marker for insulin resistance in this population.
34 citations
,
January 2022 in “Frontiers in Immunology” This study found that IL-25-mediated-IL-17RB signaling improved diabetic wound healing by enhancing angiogenesis, collagen deposition, and endothelial cell function, suggesting a potential therapeutic strategy for poorly healing diabetic wounds.
37 citations
,
January 1993 in “Journal of Investigative Dermatology”
3 citations
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September 2022 in “Animal biotechnology” This study found that knocking down lncRNA MTC in Liaoning Cashmere goat skin fibroblasts inhibited cell proliferation and increased apoptosis, suggesting its role in facilitating cell growth by regulating specific proteins.
7 citations
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April 2025 in “Science Advances” This study suggests that a biomaterial-based approach using microneedles and ion solutions to deliver SiO3 2− ions may disrupt inflammatory cycles and improve outcomes in inflammatory dilated cardiomyopathy (iDCM).
December 2022 in “Research Square (Research Square)” In this study, type I interferon response-related genes activated by RIG-1 and IL-17 signaling pathways were significantly up-regulated in both hair follicles and skin tissues affected by chronic discoidal lupus erythematosus.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
January 2026 in “Clinical Cosmetic and Investigational Dermatology” This study found that targeting both hormonal and immune pathways improved treatment outcomes in androgenetic alopecia patients with an under-recognized inflammatory component called PIILIF, which may contribute to treatment resistance.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
6 citations
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January 2015 in “Biochemical Society Transactions” This review discusses the role of Ysc84/SH3yl1 proteins in linking actin regulation to membrane morphology changes but reports no new experimental results.
October 2022 in “Research Square (Research Square)” This study found that type I interferon response-related genes activated by RIG-1 and IL-17 pathways were significantly up-regulated in hair follicle and skin samples with chronic discoidal lupus erythematosus.
January 2022 in “Figshare” This study found that knocking down lncRNA MTC in Liaoning Cashmere goat skin fibroblasts reduced cell proliferation and altered protein expression, suggesting its role in hair growth and regulatory pathways.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.
April 2017 in “Journal of Investigative Dermatology” In this study, CTCF was found to play essential roles in epidermal differentiation and skin barrier formation, simultaneously acting as a suppressor of epithelial inflammatory responses in mouse skin.
109 citations
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April 1997 in “Archives of Dermatological Research” The researchers reported that mast cell and nerve fiber interactions in mouse skin are highly selective for nerve fiber types and vary depending on the hair cycle phase.