4 citations
,
February 2022 in “JEADV Clinical Practice” This review discusses the diverse range of skin manifestations in children with COVID-19 and highlights the complexity of clinical assessment due to varied presentations; it reports no new clinical findings.
38 citations
,
January 2016 in “Cell Death and Disease” This review discusses the role of the TCL1 transgenic mouse model in understanding chronic lymphocytic leukemia biology and highlights the importance of exploring new pathogenetic and therapeutic targets.
3 citations
,
February 2018 in “Aesthetic plastic surgery” This study found that the locked cheek lift technique effectively corrects cheek gravitational migration and reduces the lid cheek distance with minimal complications, maintaining results for over a year.
23 citations
,
August 1983 in “PubMed” This case report details a 17-year-old girl with systemic lupus erythematosus and recurrent infections linked to a complete isolated Clq deficiency.
4 citations
,
March 2013 in “InTech eBooks” Confocal Laser Scanning Microscopy (CLSM) is a useful tool for studying how drugs interact with skin and diagnosing skin disorders, despite some limitations.
52 citations
,
March 2007 in “Dermatologic Therapy” This article describes the development and validation of a standardized instrument for measuring skin involvement in cutaneous lupus erythematosus, aiming to aid future clinical research and trials.
19 citations
,
September 2010 in “Journal of the European Academy of Dermatology and Venereology” This study found that while the CLASI is generally useful for assessing disease activity and damage in cutaneous lupus erythematosus, it may not accurately reflect all subtypes, indicating a need for revision.
146 citations
,
May 2002 in “The American journal of pathology” This study found that cathepsin L deficiency in mice led to significant abnormalities in hair follicle development and cycling, including disrupted hair shaft outgrowth and premature hair growth phase entry.
November 2016 in “The Molecular Biology Society of Japan”
This study concluded that removing alopecia and mucous membrane components from the CLASI-A score limits the ability to capture crucial clinical information about cutaneous lupus erythematosus activity, recommending their retention.
25 citations
,
October 2007 in “Developmental biology” In this study, transgenic mice altered to express a Clim-inhibiting molecule under a keratin promoter showed corneal degradation and hair follicle failure, highlighting Clim proteins' role in maintaining these tissues.
56 citations
,
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.
3 citations
,
October 2020 in “UNC Libraries” This article discusses the SLICC's revision and validation of the ACR SLE classification criteria to enhance clinical relevance and integrate recent immunological insights, but does not report new clinical results.
14 citations
,
January 2001 in “Current Treatment Options in Oncology” Treat limited stage small cell lung cancer with chemotherapy and radiation, and consider preventive brain radiation for better survival chances.
23 citations
,
February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
8 citations
,
November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, researchers analyzed skin tumors from patients with CYLD cutaneous syndrome and found that loss of CYLD function is linked to changes in cellular signaling pathways, particularly NF-κB signaling, and leads to increased secretion of specific extracellular matrix proteins.
40 citations
,
October 2012 in “Journal of the American Academy of Dermatology” This study found that the Cutaneous Lupus Disease Area and Severity Index (CLASI) is correlated with both physician-assessed and patient-reported outcomes in cutaneous lupus erythematosus, particularly highlighting concerns about body image in visible areas.
33 citations
,
August 2000 in “Experimental Cell Research” 5 citations
,
November 2005 This review discusses the applications of confocal laser scanning microscopy in visualizing fluorescent compounds within the skin, noting its potential for tracking drug carriers and enhancing penetration studies, but reports no new results.
3 citations
,
October 2011 This article discusses revised SLE classification criteria by the SLICC and reports no new research results.
4350 citations
,
May 2012 in “Arthritis & Rheumatism” This study found that the new SLICC classification criteria for systemic lupus erythematosus were more sensitive and resulted in fewer misclassifications than the current ACR criteria, although they had lower specificity.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
113 citations
,
June 2010 in “Biological Chemistry” This study found that mice deficient in the enzyme cathepsin L exhibited impaired degradation of autophagolysosomal content, leading to an accumulation of large, abnormal vesicles in various tissues.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
March 2026 in “SKIN The Journal of Cutaneous Medicine” This study demonstrated that litifilimab significantly reduced disease activity in cutaneous lupus erythematosus by Week 16, with improvements most notable in sunlight-exposed skin areas.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
28 citations
,
October 1987 in “PubMed” This study found that treating Tradescantia stamen hair cells with LiCl disrupts mitotic progression, leading to metaphase arrest, which can be reversed by myo-inositol or CaCl2 addition.
This study found that lysine carboxymethyl cysteinate helps protect the epidermis from UVB-induced damage by activating autophagy and restoring cornification processes in a skin model.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.