91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
62 citations
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August 2014 in “BMC Endocrine Disorders” This review summarizes the recent advances in molecular mechanisms influencing tissue sensitivity to glucocorticoids, emphasizing novel mutations and new information on the glucocorticoid receptor's circadian rhythm and ligand-induced repression, but reports no new results.
48 citations
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January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.
47 citations
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February 2015 in “European Journal of Clinical Investigation” This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.
31 citations
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July 2004 in “Molecular Medicine” This study found that mutant glucocorticoid receptors have defective transcriptional activity and dynamic motility issues in the nucleus, likely due to impaired interactions with nuclear molecules necessary for gene activation.
1 citations
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January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
December 2016 in “Springer eBooks” This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
January 2008 in “US endocrinology” This paper describes the hGRα gene structure and its expression, focusing on the functional properties of the longest GRα isoform, but reports no new results.
29 citations
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October 2016 in “Cell death and differentiation” This study found that in squamous cell carcinomas, the inhibition of the tumor-suppressor function of TAp73β by ΔNp63α occurs through promoter squelching, not direct protein interaction.
138 citations
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June 2004 in “Journal of Investigative Dermatology” This review discusses the regulation of involucrin gene expression, focusing on transcription factors and signaling pathways, and reports no new experimental findings.
40 citations
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November 2021 in “International Journal of Molecular Sciences” This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.
18 citations
,
January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
10 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced laser particles as a new imaging probe capable of real-time tracking of thousands of individual cells in 3D tumor models, suggesting potential for advanced single-cell analyses.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
49 citations
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January 2010 in “Plant and Cell Physiology” This study found that a phosphorus starvation-insensitive mutant of Arabidopsis thaliana shows altered root growth and auxin responses under low phosphate conditions compared to wild-type plants, suggesting a role for LPR1 in regulating these traits.
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.
August 2009 in “Mechanisms of Development” 3 citations
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September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
33 citations
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August 2000 in “Experimental Cell Research” 1 citations
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December 2020 in “Medical lasers” The laser therapy device effectively increased hair growth in people with androgenetic alopecia.
May 2013 in “Proceedings of SPIE” In this study, the researchers demonstrated an automatic alignment method for beams in an electron pumped excimer laser system that achieved high precision and accuracy, with a reported alignment accuracy of 0.63μrad.
March 2010 in “European Journal of Cancer Supplements”
26 citations
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April 1999 in “Dermatologic Clinics” This article reviews the basics of hair follicle biology, laser/tissue interactions, and hirsutism and hypertrichosis causes, discussing the long-pulsed alexandrite laser's role in hair reduction without reporting new clinical results.
9 citations
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July 2022 in “Dermatology and Therapy” In this study, long-pulsed 755-nm alexandrite laser treatment for keratosis pilaris significantly improved skin roughness and redness, as well as follicular plug reduction, with good safety and patient satisfaction compared to a moisturizing lotion alone.
1 citations
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April 2017 in “Journal of Investigative Dermatology” ZNF750 and MPZL3 are important in causing seborrheic dermatitis.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
June 2026 in “Virtual and Physical Prototyping” This study introduced a high-viscosity epoxy photoresist to enhance the fabrication of complex microstructures with monolithic integration and mechanical stability, enabling advancements in two-photon 3D printing for creating functional micro-mechanical devices.
2 citations
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June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.