6 citations
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November 2018 in “Case reports in nephrology and dialysis” This case report detailed a 71-year-old male with Cronkhite-Canada syndrome and associated membranous nephropathy, who showed a significant improvement in skin and gastrointestinal symptoms, and remission of nephropathy, after treatment with rituximab, cyclosporine, and azathioprine.
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.
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.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
August 2023 in “Gastroenterology” This study describes the diagnosis and successful management of Cronkhite-Canada syndrome in a 78-year-old man, highlighting improvement in symptoms and endoscopic findings after treatment with prednisone and supportive therapies.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
41 citations
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July 2016 in “Journal of Investigative Dermatology” This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.
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.
20 citations
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May 2016 in “Journal of Cutaneous Pathology” This study suggests that the presence and arrangement of plasmacytoid dendritic cells can help distinguish chronic cutaneous lupus erythematosus from other types of scarring alopecia.
3 citations
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June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
2 citations
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August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
October 2023 in “The American Journal of Gastroenterology” This case report describes chronic iron deficiency anemia in a patient with Cronkhite-Canada syndrome, highlighting the need for more data to guide treatment and cancer surveillance due to its rarity and mortality risk.
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.
1 citations
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June 2015 in “Australasian Journal of Dermatology” This case report describes a patient with Cronkhite–Canada syndrome, where immunosuppression and nutritional support led to disease remission.
53 citations
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August 2017 in “Journal of Investigative Dermatology” 6 citations
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April 2012 in “PubMed” This case report describes a 33-year-old Indian male with Cronkhite-Canada syndrome who experienced complete symptom recovery within 5 months after starting a high protein diet, proton pump inhibitors, and zinc-vitamin supplements.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
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.
September 2024 in “Journal of the American Academy of Dermatology” Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that CCCA in women of African descent is associated with molecular changes, including dysregulation of fatty acid metabolism and fibrosis pathways, suggesting potential targets for new treatments.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
9 citations
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July 2020 in “JAMA dermatology” This study explored dermatoscopic and histopathologic findings of central centrifugal cicatricial alopecia beyond the vertex scalp, suggesting that dermatoscopy might serve as a less invasive diagnostic tool for subclinical disease.
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.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
1 citations
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May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
January 2025 in “Cell Communication and Signaling” This study reviews the role of the zinc finger protein CXXC5 in cellular signaling and its implications for cancer, discussing how its dysregulation is linked to various physiological and pathological processes, as well as potential therapies targeting CXXC5.
33 citations
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August 2000 in “Experimental Cell Research”
April 2018 in “Journal of Investigative Dermatology” This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.