260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
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.
18 citations
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June 2014 in “Anais Brasileiros de Dermatologia” This case report describes a patient with Clouston Syndrome who developed eccrine syringofibroadenoma, marking only the fourth such association documented in existing literature.
This study reported a rare case of a young woman with complete heart block as the initial sign of systemic lupus erythematosus despite being negative for anti-SSA antibodies, highlighting the diagnostic utility of anti-PM-Scl 100 antibodies and nailfold capillaroscopy.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
April 2025 in “Dermatology Practical & Conceptual” This study found that erosive pustular dermatosis of the scalp is frequently misdiagnosed as squamous cell carcinoma, highlighting the need for careful differentiation to avoid unnecessary treatments.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
September 2023 in “Journal of the American Academy of Dermatology” Risankizumab effectively treats and maintains skin clearance in moderate-to-severe psoriasis.
February 1842 in “Annals of clinical and laboratory science” This article reviews how environmental pollutants like glyphosate, fluoride, and electromagnetic fields may contribute to mitochondrial dysfunction and adverse health effects such as cancer and chronic diseases, but reports no new research findings.
July 2008 in “Hair transplant forum international” This piece marks the tenth anniversary of the American Board of Hair Restoration Surgery and highlights the addition of 14 new diplomates from diverse countries, while reporting no new clinical findings.
2 citations
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July 2023 in “Water” In this study, the genotoxic effects of the 2020 harmful algal bloom event were linked to specific toxic algal groups affecting Tradescantia plants, making Trad-SHM and Trad-MN tests suitable for evaluating HABs' toxic potential.
38 citations
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May 1982 in “PubMed” This report describes almost complete resolution of calcinosis and healing of associated ulcers in an 83-year-old woman with localized scleroderma after repeated intralesional steroid injections.
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.
July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
December 2022 in “Gastroenterology” This report describes a case of Cronkhite-Canada syndrome diagnosed in a 54-year-old man with symptoms including gastrointestinal polyps, alopecia, skin hyperpigmentation, and severe diarrhea, who experienced significant symptom improvement with azathioprine.
February 2014 in “Plastic and Reconstructive Surgery” This abstract provides no new research findings; it appears to be text related to the American Society of Plastic Surgeons' educational resources.
March 2021 in “Annals of King Edward Medical University” This report details a case of a 3-year-old child with Clouston syndrome, a rare inherited disorder affecting nails, skin, and hair, highlighting the need for supportive management due to the absence of treatment options.
August 2019 in “Journal of The American Academy of Dermatology” This study found that bleach baths using 0.005% hypochlorite directly affected serine protease expression in skin cells and reduced skin pH in patients with atopic dermatitis, suggesting potential therapeutic benefits.
March 2024 in “Indian Journal of Dermatology” In this case report, a 42-year-old male diagnosed with Cronkhite-Canada syndrome presented symptoms like chronic diarrhea, significant weight loss, skin hyperpigmentation, alopecia, and nail dystrophy, with endoscopic findings revealing numerous gastrointestinal polyps.
29 citations
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October 2020 in “Environmental health perspectives” This study found that several preservatives, including triclocarban and triclosan, showed potential endocrine-disrupting effects on various nuclear receptors in both in silico and in vitro models.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this publication, independent scholar Jeffi Chao Hui Wu presents a comprehensive civilization archiving system spanning fourteen domains, highlighting innovative AGI limitations and physiological case reversals, published in ten languages and integrated into global academic infrastructures.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
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.
1 citations
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December 1913 in “Biochemical Journal” This article reviews the historical discovery and validation of isocholesterol, confirming its identity as a distinct sterol but reports no new research findings.
18 citations
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January 2021 in “Theranostics” This study found that actively targeted AN2728-loaded nanocarriers reduced inflammation and improved skin condition in a mouse model of psoriasiform inflammation compared to free drug and non-targeted nanoparticles.
5 citations
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December 2011 in “Drug Research” This study found that cortexolone 17α-propionate showed strong topical antiandrogenic activity, outperforming progesterone and several known antiandrogens, but lacked systemic antiandrogenic effects in animal models.
January 2023 in “Pesquisa Veterinária Brasileira” This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.
March 2021 in “The British Journal of Psychiatry” The abstract for this research is not provided, so results or conclusions from this study are not available.
September 2023 in “Journal of the American Academy of Dermatology” This study suggests that using the International Psoriasis Council's classification, which includes body surface area, special areas, and treatment history, may identify more candidates for systemic therapy than by body surface area alone.