26 citations
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July 2021 in “Frontiers in Cell and Developmental Biology” This review discusses mesenchymal stromal cell-conditioned medium for various skin conditions and found improvements in wound healing, hair restoration, and more, but emphasizes the need for further research to validate these findings.
April 2024 in “Current Rheumatology Reviews” This case report describes an 8-year-old girl with Mixed Connective Tissue Disease who experienced remission after treatment with immunomodulator drugs, highlighting the diagnostic value of anti-U1 RNP antibody testing in children.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In a mouse model study, researchers observed that the absence of MCPIP1 in myeloid cells decreased susceptibility to chemically induced skin papillomas but caused significant hair loss and skin pigmentation changes, suggesting a role for MCPIP1 in skin carcinogenesis and follicle integrity.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed distinct cellular and transcriptomic differences among various subtypes of cutaneous T-cell lymphoma, particularly highlighting characteristics unique to folliculotropic mycosis fungoides.
1 citations
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January 2005 in “Experimental Dermatology” This study found that α-MSH may suppress IFN-γ-driven upregulation of ICAM-1 in human dermal fibroblasts, suggesting potential roles for melanocortins in inflammatory skin disorders beyond collagen synthesis effects.
43 citations
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September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
158 citations
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December 2002 in “Development” In this study, Msx2-deficient mice showed progressive hair loss due to shortened anagen phase and prolonged catagen and telogen phases, resulting in cyclic alopecia with structurally abnormal hair shafts.
5 citations
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September 2023 in “Journal of Cosmetic Dermatology” This study found that c-Maf positive M2 macrophages may promote hypertrophic scar formation by enhancing the proliferation, migration, and extracellular matrix deposition of hypertrophic scar fibroblasts through increased TGF-β1 expression.
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.
December 2019 in “The American Journal of Gastroenterology” In this study, three cases of Cronkhite-Canada syndrome revealed small bowel mucosal lesions, but these findings did not correlate with clinical symptoms or steroid treatment outcomes.
6 citations
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July 2005 in “Acta Ophthalmologica Scandinavica” This case report suggests that madarosis, or eyelash loss, may be associated with mitochondriopathy, expanding the known causes of madarosis to include this condition.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
8 citations
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April 2017 in “American Journal of Dermatopathology” In this study, nail matrix pathology in a patient with Cronkhite–Canada Syndrome revealed matrix hypergranulosis, suggesting that an inflammatory process may play a key role in the condition's pathogenesis.
12 citations
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August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
3 citations
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March 2019 in “Case Reports” This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.
21 citations
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January 2013 in “Clinical Endoscopy” This study reports the first case in South Korea of Cronkhite-Canada syndrome associated with malignant colon polyp and serrated adenoma.
15 citations
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May 2010 in “International Journal of Cosmetic Science” This review discusses new developments in understanding the structure and properties of keratin fiber cell membrane complexes, without reporting new experimental results.
4 citations
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December 2014 in “Indian Journal of Dermatology” This case report documents a rare presentation of congenital milia en plaque on the scalp of a five-year-old boy, with blaschkoid extension to the nuchal area, highlighting its uncommon location and onset.
4 citations
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July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
October 2025 in “Journal of the Endocrine Society” This case report documented the management of a 46-year-old female with Marine-Lenhart syndrome, combining antithyroids with minimally invasive sclerotherapy to achieve euthyroidism and reduce thyroid nodule size by 58%.
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.
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.
2 citations
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August 2022 in “Viruses” This study found that cutaneous squamous cell carcinomas in mice infected with murine papillomavirus preferentially arise from Lgr5+ progenitor cells, while squamous cell dysplasia does not.
5 citations
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September 2017 in “Medicine” In this case report, a patient with Cronkhite-Canada Syndrome developed colon cancer and liver metastasis despite hormone therapy, highlighting the need for regular monitoring and early detection strategies.
2 citations
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January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin pigmentation alterations in a mouse model of Carney complex may be caused by specific dermal fibroblasts promoting melanogenic signaling.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
October 2024 in “Medicine” In this case report, a 72-year-old female with Cronkhite-Canada syndrome showed significant improvement in symptoms and gastrointestinal polyps after hormone therapy and additional treatment.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” This study reports previously unreported nail features in Cronkhite-Canada syndrome, specifically recurrent onychomadesis of all 20 nails linked to systemic illness.
May 2020 in “International journal of dermatology and venereology” This study introduces the term "hair matrix cyst" for a cyst with both pilomatricoma and epidermal cyst characteristics, highlighting its potential for misdiagnosis among similar skin conditions.