February 2009 in “Journal of The American Academy of Dermatology” Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
22 citations
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November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that cathepsin L and transglutaminase 3 colocalize in the human hair bulb and nail matrix, suggesting their involvement in terminal differentiation within these epidermal appendages.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
March 2026 in “Drug Testing and Analysis” This study observed that the degradation product PTeCA significantly increased in hair treated with oxidative cosmetics, suggesting it could be a reliable marker for detecting such treatments, with a proposed PTCA cut-off value using PTeCA as the gold standard.
10 citations
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January 1997 in “Dermatology” This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.
January 1981 in “Elsevier eBooks”
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
88 citations
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August 2019 in “Nature communications” In this study, researchers identified a specific T cell receptor associated with carbamazepine-induced severe cutaneous adverse reactions, demonstrating its potential for therapeutic development in patients with the HLA-B*15:02 genotype.
17 citations
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September 2009 in “British Journal of Dermatology” This study suggests that clinically apparent fragile hair in children is rarely linked to trichothiodystrophy, and the tiger-tail pattern is not wholly specific to this diagnosis.
August 2022 in “Archives of pediatric surgery” This article reviews cultural differences in the incidence of hair-thread tourniquet syndrome and finds it may be less prevalent in Iranian children compared to Europe, possibly due to social and cultural factors.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” The researchers reported increased ubiquitination of proteins such as the insulin receptor in CYLD cutaneous syndrome skin tumors, suggesting that CYLD dysfunction may affect protein secretion and signaling processes.
1 citations
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January 2015 in “Hair transplant forum international” This review discusses low level laser therapy for hair loss but reports no new research findings; it serves as an introduction to understanding existing knowledge before upcoming evaluations of recent studies.
16 citations
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January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
April 2026 in “Future Medicinal Chemistry” This article discusses the impact of PROTACs technology in transforming drug discovery with its novel degradation mechanism, but it reports no new experimental findings.
9 citations
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September 2010 in “Dermatologic therapy” This study found that combined therapy with cetirizine and topical steroids stabilized inflammation in most patients with lichen planus pilaris, though one patient experienced cardiac arrhythmia.
4 citations
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January 1993 in “Clinical Chemistry and Laboratory Medicine (CCLM)” This study developed a highly sensitive fluorescent assay for measuring enzyme activity in single hair follicles, allowing the efficient analysis of over 100 samples per day.
January 2022 in “Figshare” This study found that knocking down lncRNA MTC in Liaoning Cashmere goat skin fibroblasts reduced cell proliferation and altered protein expression, suggesting its role in hair growth and regulatory pathways.
24 citations
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January 2019 in “Theranostics” This study found that loss of the Pten gene in Lgr5+ hair follicle stem cells promoted squamous cell carcinoma formation through the Akt/β-catenin signaling pathway.
1 citations
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January 1980 in “Acta Dermato Venereologica” This study found that oral tetracycline hydrochloride significantly reduced the free fatty acid/triglyceride ratio in hair lipids of young men and women treating acne vulgaris, with or without additional ethyl lactate application.
35 citations
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December 2017 in “Journal of Experimental Botany” In this study, CSLD3 overexpression in Arabidopsis enhanced root and hypocotyl growth by increasing cell elongation, with root growth highly sensitive to ethylene and phosphate starvation conditions.
23 citations
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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.
July 2024 in “Dermatology Practical & Conceptual” This article discusses the diagnostic challenges between certain neonatal scalp conditions and highlights the potential of line-field confocal optical coherence tomography to provide detailed, non-invasive skin examination, without presenting new clinical findings.
11 citations
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September 1999 in “Journal of the European Academy of Dermatology and Venereology” This review examines various immunomodulatory therapies for cutaneous lymphoma and notes that they are most effective in the disease's early stages.
107 citations
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December 2003 in “Dermatologic Therapy” This paper reviews the use of interferons, particularly alfa interferon, in treating cutaneous T-cell lymphoma, noting its substantial efficacy both alone and in combination therapies with predictable, generally well-tolerated side effects.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
January 2017 in “Springer eBooks” This article reviews the classification, pathogenesis, and treatment options for cutaneous lupus erythematosus and reports no new clinical findings.
October 2017 in “The American Journal of Gastroenterology” This case report details a 71-year-old man diagnosed with Cronkhite-Canada Syndrome, highlighting the importance of early diagnosis and endoscopic evaluation due to the disease's progressive nature and significant mortality risk.
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.
1 citations
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February 2026 in “ACS Nano” This study developed the TLMG hydrogel, a seamless in situ biointerface platform, demonstrating robust adhesion, high conductivity, and therapeutic effects for intelligent wound management in complex animal models and human tests, indicating its promise for integrated bioelectronic medicine.