In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
36 citations
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March 2014 in “Molecular and Cellular Biology” This study found that Cidea is critical for regulating lipid storage and sebum secretion in sebaceous glands, with its deficiency causing hair issues and impaired skin functions in mice.
January 2025 in “JCEM Case Reports” In this case report, a 21-year-old woman diagnosed with ACTH-independent Cushing syndrome showed improvement in symptoms, including a more regular menstrual cycle and lower hirsutism, after starting treatment with ketoconazole, although she developed hypertension.
December 2009 in “Cancer Research” This study suggests that over-expression of Sp2 may limit stem cell differentiation and contribute to tumorigenic cell growth in mice.
September 2022 in “Skin appendage disorders” This article explores potential risk factors for central centrifugal cicatricial alopecia and suggests that seborrheic dermatitis may play a role in its development, but it reports no new scientific findings.
January 2022 in “Clinical Cases in Dermatology” This review discusses the pathogenesis, diagnosis, and treatment strategies for Central Centrifugal Cicatricial Alopecia, emphasizing a multifactorial approach and reporting no new clinical results.
May 2014 in “Journal of Aesthetic Nursing” This summary reflects on the success of the Health Education England stakeholder summit on non-surgical cosmetic interventions and outlines future training plans without reporting new research results.
November 2024 in “Journal of Investigative Dermatology” Microfluidic models improve testing for aging, wound healing, and oral tissue, reducing animal testing.
April 2018 in “Journal of Investigative Dermatology” This study found that inactivating CerS4 in mouse epidermis disrupts lipid homeostasis and is crucial for maintaining, but not forming, the skin barrier.
1 citations
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November 2023 in “Endocrine Connections” This study developed a validated gas chromatography–tandem mass spectrometry assay to assess sex steroid hormones in cerebrospinal fluid, finding substantial levels of DHEA, androstenedione, and testosterone, with strong correlations to serum levels, providing insight into sex steroid dynamics in the human CNS.
19 citations
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January 2015 in “Skin appendage disorders” This study identified a new variety of central centrifugal cicatricial alopecia that includes patchy hair loss on the lateral and posterior scalp in African-American women, which could be misdiagnosed as traction alopecia without dermatoscopy and pathology.
November 2022 in “Journal of Investigative Dermatology” This study found that dysregulation of the DNA damage response in stem cells is a common factor of aging, affecting tissues like the skin, brain, kidneys, and intestine.
3 citations
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January 2022 in “Burns & Trauma” This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.
63 citations
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May 2011 in “Clinical cancer research” In this study, topical CUR61414 was effective in inhibiting basal cell carcinomas in mice, but no clinical activity was observed in human trials.
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 2007 in “Queen Mary Research Online (Queen Mary University of London)” This study identified interactions between EGF signaling and the GLI proteins in basal cell carcinoma that may contribute to the limited metastasis seen in this skin cancer.
February 2004 in “European Urology Supplements” 14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
April 2025 in “Dermatology Practical & Conceptual” This study found that erosive pustular dermatosis of the scalp is often misdiagnosed as squamous cell carcinoma, highlighting the importance of biopsy for accurate diagnosis.
3 citations
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January 2008 in “Drug Safety”
7 citations
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March 2012 in “European Journal of Pediatrics” This case report describes a 4.5-year-old boy with steroid-resistant nephrotic syndrome linked to X-linked recessive ichthyosis, where remission was achieved using cyclosporine, suggesting STS deficiency as a potential genetic cause of the condition.
1 citations
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December 2014 in “Zenodo (CERN European Organization for Nuclear Research)” This protocol details a method for inducing skin cancer in mice through chemical carcinogenesis, which studies cutaneous malignancies but does not report new findings.
This study introduced Cadd4, a peptide-based degrader developed using computer-aided drug design, which effectively reduced PCSK9 levels and increased LDL receptor expression, resulting in decreased plasma cholesterol and LDL-C levels in hypercholesterolemic mice, without liver toxicity.
This article presents a collection of 70 multiple choice questions designed to assist haematology and core medical trainees with diagnostic and management skills, but it provides no new clinical findings.
6 citations
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July 2011 in “British Journal of Dermatology” This paper reports a case of sebaceous carcinoma developing at the site of chronic candidiasis in a patient with keratitis–ichthyosis–deafness syndrome, without presenting new generalizable findings.
July 2022 in “International Medical Case Reports Journal” This report details a 6-year-old girl with adrenocortical cancer presenting with voice changes, weight gain, and excessive hair growth, successfully treated with surgery and medication, with symptoms resolved after 6 months.
September 2006 in “Pediatrics in Review” This case report highlights a 16-year-old girl with primary amenorrhea diagnosed with complete androgen insensitivity syndrome after chromosomal analysis revealed a 46,XY karyotype.
3 citations
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October 2021 in “Turkish Journal Of Neurology” This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.
3 citations
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October 2001 in “British Journal of Ophthalmology” This case report suggests that intralesional cidofovir successfully treated SCC without systemic toxicity, making it a potential alternative to consider alongside surgical excision.
June 2019 in “International journal of dermatology and venereology” This review discusses the hedgehog signaling pathway's role in cutaneous tumors and hematological disorders, highlighting its potential as a therapeutic target, but reports no new clinical findings.