This article reviews current understanding of Hutchinson–Gilford Progeria Syndrome and suggests RNA-based treatments show promise, but no new clinical findings are reported.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
28 citations
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May 2020 in “BMC plant biology” This study concluded that GLCAT14A-C genes are crucial for the function of glucuronic acid transfer to AGPs in Arabidopsis, affecting various growth and reproductive traits such as seed germination and root hair growth.
36 citations
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July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
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.
119 citations
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September 2000 in “Journal of Biological Chemistry” This study found that the K19 promoter is active in certain gastrointestinal cancer cells and its activity is influenced by the interaction between GKLF and Sp1 transcription factors.
15 citations
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September 2018 in “Frontiers in Plant Science” This study identified that downregulation of the gene BcFLA1 decreases root hair length in Brassica carinata under phosphate-deficient conditions, highlighting its role in root hair elongation.
26 citations
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September 2012 in “Cell Reports” In this study, knockout of B-raf and C-raf genes in mice showed they are not needed for early melanocyte development, but are crucial for maintaining melanocyte stem cells, as evidenced by hair graying due to stem cell depletion.
1 citations
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November 2025 in “Neuro-Oncology” In this study, safusidenib erbumine was evaluated for its efficacy and safety in patients with untreated IDH1-mutated WHO grade 2 gliomas, achieving a 44.4% objective response rate and 87.9% 24-month event-free probability, but with some mild to moderate adverse effects.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
This study found that the enzyme encoded by Dgat1 acts as a retinol acyltransferase in murine epidermis, protecting against retinoid toxicity and alopecia by preventing retinol accumulation.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
75 citations
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July 2016 in “New phytologist” This study found that RSL4 in Arabidopsis thaliana regulates genes necessary for root hair elongation by controlling proteins involved in cell signaling, cell wall modification, and secretion.
85 citations
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March 2008 in “Journal of Cell Science” This study created transgenic mouse models with the LMNA gene mutation common in Hutchinson-Gilford progeria syndrome, revealing skin and teeth abnormalities related to transgene expression levels.
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.
48 citations
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March 2003 in “International Journal of Cancer” This study suggests that loss of DMBT1 and galectin-3 expression may contribute to the development of epithelial skin cancers, indicating potential tumor-suppressive roles in this context.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
101 citations
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November 2019 in “The Plant Cell” This study found that the zinc finger protein AtZP1 inhibits root hair initiation and elongation in Arabidopsis by suppressing key transcription factors involved in root hair development.
17 citations
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February 2019 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that manipulating AKR1D1 expression in human liver cells effectively regulates glucocorticoid clearance and receptor activation, highlighting its role in liver-specific steroid hormone regulation.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
April 2019 in “Journal of Investigative Dermatology” This study developed an Asian human sebocyte cell line from breast skin tissue that can be used for sebaceous gland biology investigations, showing that Y27632 may promote cell growth through EGFR-CRAF-MEK-ERK and AKT pathways.
11 citations
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January 2015 in “Journal of cellular physiology” This study suggests that abnormal hair cycles in Hr mutant mice may be caused by HR protein overexpression, which down-regulates miR-31 and increases Tgf-β2 expression.
1 citations
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April 2009 in “The Proceedings of the International Plant Nutrition Colloquium XVI” This study found that phosphorus and nitrogen deprivation increased root hair length in Brassica carinata and induced the expression of certain P-responsive genes, such as LRR and PRP.
22 citations
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August 2020 in “Cells” This review discusses the role of TGM3 in skin and hair follicle biology, human tumor pathology, and genetic abnormalities, and reports no novel results; the authors highlight its potential as a cancer diagnostic biomarker.
27 citations
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April 2020 in “Journal of Experimental Botany” This study found that glutathione deficiency affects lateral root and root hair responses to indole butyric acid in plants, but not to indole acetic acid, indicating its role in auxin pathway regulation.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.
14 citations
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September 1999 in “Mammalian genome” In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.
This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
August 2019 in “Journal of Invertebrate Pathology” This study observed that different alkaline buffers had a significant impact on the volume of liquid consumed by fall armyworm larvae, emphasizing the importance of measuring imbibed volumes to reduce dose errors in bioassays.