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.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
6 citations
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August 2016 in “Journal of Visualized Experiments” This article describes a method using the CUBIC protocol to clarify and visualize molecular and cellular interactions in mouse skin biopsies at single cell resolution, but does not provide new biological findings.
5 citations
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October 2012 in “Australian veterinary journal” This report describes two South Australian Poll Hereford calves with a syndrome of congenital dyserythropoietic anaemia, dyskeratosis, and progressive alopecia, observing specific blood and bone marrow abnormalities.
January 2018 in “Journal of Investigative Dermatology” This quiz article provides a series of dermatological diagnosis questions based on a Journal of Investigative Dermatology article and includes explanations but reports no original research findings.
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.
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.
4 citations
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September 2018 in “International journal of research - granthaalayah” This study reported that 12% of female Qassim University students had been diagnosed with PCOS, with misconceptions about the condition and treatments observed despite high awareness.
13 citations
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March 2019 in “Pharmacology Research & Perspectives” This study analyzed CADR reports in Singapore, finding nonsteroidal anti-inflammatory drugs, antibiotics, and iohexol frequently associated with serious skin reactions like rash and angioedema, with trends varying by demographics.
19 citations
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January 2020 in “Journal of Biophotonics” This study found that using a PEG-400/oleic acid mixture as an optical clearing agent enhanced the detection depth of particles in skin without causing dehydration, based on tests in rats and further testing in vivo.
40 citations
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October 2012 in “Journal of the American Academy of Dermatology” This study found that the Cutaneous Lupus Disease Area and Severity Index (CLASI) is correlated with both physician-assessed and patient-reported outcomes in cutaneous lupus erythematosus, particularly highlighting concerns about body image in visible areas.
January 2017 in “International journal of biomedical engineering and clinical science” This case report describes significant skin and oral mucosa lesions in a 19-year-old patient with cri-du-chat syndrome, highlighting their impact on her nutritional status and quality of life.
6 citations
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October 2023 in “JAAD Case Reports” This study describes dissecting cellulitis of the scalp (DCS) as a rare and aggressive form of chronic scalp inflammation presenting with pustules and nodules, commonly affecting males and African Americans, and leading to significant quality of life impacts and psychological distress.
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
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.
4 citations
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September 2024 in “BMC Cancer” In this prospective phase II clinical trial, researchers are investigating whether adding dutasteride to combined androgen blockade can improve the response rate and clinical outcomes for patients with androgen receptor-positive recurrent or metastatic salivary duct carcinoma.
1 citations
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November 2025 in “Clinical Chemistry and Laboratory Medicine (CCLM)” This study developed a new measurement procedure using isotope dilution-liquid chromatography-tandem mass spectrometry for accurate quantification of DHEAS in human serum or plasma, demonstrating high selectivity, sensitivity, and low measurement uncertainty, making it suitable for routine standardization and clinical evaluation.
24 citations
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March 2010 in “Value in Health” This review found that the only PCOS-specific quality of life measure, the PolyCystic Ovary Syndrome Questionnaire, has an incomplete development history and lacks some essential measurement properties for clinical trial use.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
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.
February 2026 in “Pharmaceuticals” This study introduced the KRDQN predictive framework, which outperformed existing methods in predicting adverse drug reactions and provided interpretable insights into drug mechanisms, aiding pharmacovigilance and clinical decision-making.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
52 citations
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March 2007 in “Dermatologic Therapy” This article describes the development and validation of a standardized instrument for measuring skin involvement in cutaneous lupus erythematosus, aiming to aid future clinical research and trials.
January 2022 in “Chemistry: A European Journal” This study found that synchrotron radiation ECD imaging provides new insights into solid-state Finasteride by highlighting the significant role of anisotropy in local domains for chiroptical measurements.
2 citations
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April 2021 in “Cureus” This study developed two highly reliable Arabic HRQoL questionnaires for evaluating quality of life in married and unmarried women with polycystic ovary syndrome.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
May 2018 in “Dermatologic Surgery” This overview highlights the Dermatologic Surgery journal's comprehensive coverage of dermatologic surgical procedures, but it reports no new research findings.
19 citations
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February 2018 in “International Journal of Endocrinology and Metabolism” This study found that the revised 43-item PCOSQ had better validity and reliability than the original version, although further studies are needed to assess its predictive efficacy.
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.