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.
822 citations
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January 2021 in “Genome biology” This study presents a new method called scMC that effectively distinguishes biological from technical variation in single-cell genomics datasets, demonstrating its ability to accurately align and detect biological signals across various experiments.
21 citations
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October 1980 in “Gastroenterology” This report is the first to associate Cronkhite-Canada syndrome with multiple myeloma, describing regenerative pseudopolyps in a 58-year-old woman rather than true adenomatous polyps.
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.
9 citations
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June 2011 in “American Journal of Dermatopathology” This report presents a case of molluscum contagiosum virus infection within an epidermoid cyst in a 13-year-old on long-term steroid treatment, highlighting its rare occurrence and need for histological examination for accurate diagnosis.
April 2023 in “Authorea (Authorea)” This case report describes the presentation of a 32-year-old Iranian immunocompetent female diagnosed with Merkel Cell Carcinoma, highlighting the importance of early diagnosis and management to mitigate complications.
November 2025 in “Informatica” This study introduces a novel image enhancement method that significantly improves the visual quality of low-light sports images by utilizing improved bilateral filtering and the CLAHE algorithm, achieving a 65.24% improvement in color and edge detail preservation compared to state-of-the-art methods on the LOL dataset.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
1 citations
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November 2016 in “Frontiers in neurology” In this case report, a patient with Cronkhite-Canada syndrome also had mononeuritis multiplex, and the authors suggest that an autoimmune mechanism may be involved based on steroid responsiveness and electrophysiological findings.
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.
December 2024 in “Clinical and Experimental Dermatology” This study found that patients with central centrifugal cicatricial alopecia preferred shared decision-making with their doctors regarding treatment management.
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.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
April 2026 in “Scientific Reports” In this study, the proposed MSF-VMDNet, combining dual encoder networks with a multi-frequency domain mechanism, significantly outperformed existing methods in segmenting skin cancer tissues from histological slide images, achieving high accuracy with an MIoU of 95.37% and a Dice coefficient of 95.11%.
3 citations
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October 2020 in “Journal of Investigative Dermatology” This study established that the Dct::CreERT2 mouse line is effective for targeting and studying adult melanocyte stem cells, contributing to the understanding of melanocyte biology and hair pigmentation.
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.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study found that cationic surfactant-based conditioning systems significantly improve hair combability by forming a stable low-friction film on hair surfaces, reducing friction and enhancing sensory performance compared to standard systems, as confirmed by both instrumental and sensory evaluations.
18 citations
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February 2022 in “Cell Death Discovery” In this study, researchers found that hair follicle-derived mesenchymal stem cells, modified to overexpress extracellular matrix protein 1, significantly improved liver function and reduced liver damage in cirrhotic mice by inhibiting hepatic stellate cell activation and TGF-β/Smad signaling.
1 citations
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July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
This study found that the Arabidopsis cation chloride cotransporter (CCC1) is crucial for regulating pH and processes in the trans-Golgi-network/early endosome, impacting plant growth and stress responses.
2 citations
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July 2025 in “Analytical Chemistry” This study reported the development of a workflow that combines SIMS and X-ray elemental mapping techniques for multimodal imaging at the single cell level, successfully applied to visualize elements, metals, and lipids in porcine skin without loss or delocalization.
19 citations
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May 2020 in “Cells” This study found that 5% primed conditioned medium from human umbilical cord blood-derived mesenchymal stromal cells significantly improved hair density, thickness, and growth rate in patients with androgenetic alopecia.
21 citations
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October 2013 in “Molecular Biology of the Cell” This study found that the protein CCN2 in dermal papilla cells is a physiologically relevant suppressor of hair follicle formation by destabilizing β-catenin, which may help maintain stem cell quiescence.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.
19 citations
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August 2020 in “Gastroenterology report” This review discusses the characteristics and challenges in treating Cronkhite–Canada syndrome but reports no new clinical findings, emphasizing the need for better understanding and uniform treatment approaches.
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.
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.
21 citations
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August 2002 in “British Journal of Ophthalmology” This article discusses topical and intralesional cidofovir use for SCC and suggests a successful outcome in one case, with no systemic toxicity observed so far.
22 citations
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April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.