7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
This study found that Smad4 is crucial for satellite cell amplification during skeletal muscle regeneration, with aged cells exhibiting less Smad4 and reduced regenerative capability in mice.
17 citations
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June 2018 in “Frontiers in Physiology” This study found that acellular dermal matrix scaffolds may facilitate full-thickness skin wound healing by promoting a pro-regenerative immune response through M2 macrophage polarization via the Lamtor1 pathway.
April 2019 in “Journal of Investigative Dermatology” This study found that mice lacking REDD1 experienced an expansion of dermal white adipose tissue through both hypertrophy and hyperplasia, suggesting a potential therapeutic target for skin adipogenesis regulation.
1 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in mice, knockout of Rac1 and Rac3 in keratinocytes led to reduced white adipose tissue and revealed Rac-dependent paracrine pathways affecting pre-adipocyte differentiation.
39 citations
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April 2019 in “The journal of immunology/The Journal of immunology” This study found that Malt1, particularly its protease activity, plays a crucial role in maintaining Treg cell function and homeostasis, with its inactivation leading to autoimmune diseases and altered immune responses in mice.
1 citations
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October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
147 citations
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September 2006 in “Developmental Cell” This study found that Smad7 perturbs hair follicle development while promoting sebaceous gland formation by antagonizing Wnt/β-catenin signaling in transgenic mice.
February 2025 in “PubMed” In this study, researchers evaluated CS12192, a selective JAK3 inhibitor, in an alopecia areata mouse model and found it reversed hair growth inhibition comparably to baricitinib, with better safety and similar immune-modulating mechanisms.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that an E-cadherin mutant preserved normal cadherin levels and prevented inflammation and lethality in mouse skin lacking p120, highlighting p120's role in regulating cadherin-mediated cell adhesion and inflammation.
April 2010 in “Cancer Research” This study suggests that Mcl-1 has a non-apoptotic role in promoting keratinocyte proliferation and Wnt/β-catenin signaling, potentially indicating a novel oncogenic activity.
15 citations
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August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
4 citations
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February 2024 in “Anais Brasileiros de Dermatologia” 1 citations
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August 2009 in “Mechanisms of Development”
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study used machine learning to identify molecular predictors of drug response in alopecia areata, suggesting a tool for predicting treatment efficacy based on gene signatures.
13 citations
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July 2020 in “Stem Cell Research & Therapy” This study identified a comprehensive global landscape of stemness-related gene clusters in adipose-derived mesenchymal stem cells, revealing that stemness was highest in cells from young donors and lowest in those from elderly donors.
14 citations
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April 2008 in “PROTEOMICS” This study suggests that the down-regulation of 14-3-3 proteins in wild-type keratinocytes, absent in Smad4 mutant keratinocytes, might contribute to the failure of hair follicles to initiate catagen in Smad4 knockout mice.
April 2018 in “Journal of Investigative Dermatology” This study found that desmosomal cadherin desmoglein 3 loses its rigidity upon Ca2+ removal, regardless of desmosome functional state, suggesting a central role for signaling in hyper-adhesion.
1 citations
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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.
117 citations
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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.
March 2026 in “Clinical Cosmetic and Investigational Dermatology” In this case study, treatment with the selective JAK1 inhibitor upadacitinib significantly improved symptoms in a patient with refractory alopecia areata, vitiligo, ankylosing spondylitis, and allergic asthma-nasal syndrome, though a transient liver function abnormality was noted.
81 citations
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February 2014 in “EMBO molecular medicine” This study found that prolonged Nrf2 activation in mouse keratinocytes led to enlarged sebaceous glands, hair loss, and cysts, suggesting a role for Nrf2 in conditions like MADISH.
21 citations
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January 2008 in “Indian Journal of Dermatology Venereology and Leprology” This archive describes the Bioline International platform, which hosted open access journals from developing countries but reports no new research findings.
June 2026 in “Frontiers in Immunology” In this case report, a 57-year-old man with severe atopic dermatitis, vitiligo, and alopecia areata showed rapid and significant improvement after treatment with the JAK1 inhibitor upadacitinib, suggesting its potential as an effective monotherapy for these co-existing conditions when conventional therapies fail.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
August 2025 in “Stem Cells” This study developed a molecular systems architecture to map the complex interactions between mesenchymal stromal cells and their microenvironment, providing a framework for future predictive models that could enhance therapeutic strategies and reduce adverse effects.
17 citations
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September 2018 in “Matrix Biology” The researchers reported that mouse keratinocyte-specific deletion of laminin γ1 led to delayed coat pigmentation due to impaired melanocyte migration and differentiation, linked to altered laminin composition in the basement membrane.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
In this study, Smad4 deletion in satellite cells hindered skeletal muscle regeneration in adult mice and did not enhance regeneration in aged mice, indicating Smad4's crucial role in muscle repair.