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.
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.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
April 2019 in “Journal of Investigative Dermatology” This study reported that mSKPs and DMSCs share similarities in biological characteristics but exhibit distinct transcriptome profiles, with mSKPs being more immune-related and DMSCs more associated with differentiation and disease pathways.
1 citations
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July 2017 in “PubMed” This study describes two Danish cases of Cronkhite-Canada syndrome presenting with malnutrition and gastrointestinal issues; both patients underwent successful treatment and remission after developing colonic adenocarcinomas.
7 citations
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March 2022 in “The FASEB journal” This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.
This study found that topical mesenchymal stem cell conditioned medium improved skin structure by increasing collagen fiber density, hair follicles, and blood vessel number in a mouse model of skin aging.
8 citations
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September 2016 in “Pediatric dermatology” This review discusses the diverse clinical manifestations of mucopolysaccharidoses in children and emphasizes the importance of early diagnosis and treatment initiation, but it reports no new clinical findings.
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.
June 2026 in “Clinical Case Reports” This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.
16 citations
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June 1983 in “Journal of Neurochemistry” This study found that copper injections increased dopamine-β-hydroxylase activity in the brains of mottled mice, an animal model for Menkes' syndrome.
1 citations
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March 2022 in “Frontiers in Medicine” This case report highlights a rare instance of esophageal carcinoma in a patient with Cronkhite-Canada syndrome, emphasizing the importance of endoscopic surveillance for malignant gastrointestinal tumors in these patients.
31 citations
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October 2019 in “Genes & Diseases” This study identified significant gene expression differences in human basal cell carcinoma, including up-regulation of zinc finger encoding genes, which are not entirely reflected in current mouse models.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
24 citations
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November 2023 in “Nature” In this study, researchers demonstrated that the expression of the oncogene SmoM2 leads to basal cell carcinoma in the ear epidermis of mice but not in the back skin, with differences in susceptibility linked to the composition of the extracellular matrix.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
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.
323 citations
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November 2017 in “Bioanalysis” This commentary discusses the challenges of matrix effects in LC–MS analysis and introduces the concept of a matrix effect factor using stable isotopically labeled internal standards to improve analysis reliability.
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.
2 citations
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December 2022 in “Bio-Design and Manufacturing” This study demonstrates that the newly developed portable reflectance confocal microscope (PRCM) offers real-time, noninvasive monitoring of wound healing processes by visualizing skin morphology in both mice and humans.
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.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
September 2024 in “Journal of the American Academy of Dermatology” 6 citations
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June 1986 in “The Journal of Dermatology” This report discusses a case of reticular erythematous mucinosis syndrome, highlighting minimal mucin deposition and significant lymphocytic infiltration around the hair follicle, contributing to the ongoing debate about its nature as a mucinosis.
5 citations
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April 2023 in “Life” This review discusses central centrifugal cicatricial alopecia in adolescents, noting varied presentation and highlighting genetic and environmental factors, but reports no new clinical findings.
February 2026 in “Biophysical Journal” 1 citations
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January 2016 in “Journal of Biosciences and Medicines” This study found that the ACTH/MC2R system is important for hair cycle regulation, with deficiencies in MC2R leading to altered hair growth phases in mice.
February 2024 in “International journal of medical science and clinical research studies” This article reviews the clinical features, pathogenesis, and treatment strategies for Central Centrifugal Cicatricial Alopecia, emphasizing the need for enhanced understanding and early diagnosis, but reports no new research findings.
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.
This study identified the Arabidopsis cation chloride cotransporter CCC1 as essential for regulating pH and function in the trans-Golgi network/early endosome, with its absence causing significant growth and stress response defects.