December 2018 in “Neuroradiology” MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
22 citations
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June 2018 in “Journal of Neuroinflammation” This study found that procyanidins effectively alleviate neuropathic pain in mice by significantly inhibiting MMP-9/2 activity.
2 citations
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November 2022 in “Skin research and technology” This study found that the p.E402K mutation in the KRT86 gene is a hotspot in Chinese patients with monilethrix, and treatment with 5% topical minoxidil significantly improved hair density and quality.
5 citations
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January 2012 in “PubMed” This study observed that anti-multiple nuclear dots antibodies, typically markers for primary biliary cirrhosis, were also present in patients with various autoimmune and connective tissue diseases, without correlating to disease activity or specific skin features.
6 citations
,
February 2022 in “The journal of neuroscience/The Journal of neuroscience” This study observed that deleting PTEN in mouse facial motoneurons enhanced peripheral axon regeneration but also led to physiological changes and potential hyperplasia in older mice.
10 citations
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January 2012 in “Lupus” This case report is the first to associate NEMO syndrome with systemic lupus erythematosus, suggesting a potential role for NF-kB essential modulator in the pathogenesis of SLE.
January 2018 in “프로그램북(구 초록집)”
October 2023 in “BMC endocrine disorders” In this case study, researchers observed a 5.8-year-old male with peripheral precocious puberty due to a germ cell tumor, marked by elevated human chorionic gonadotropin levels. Treatment normalized hormone levels and arrested the puberty progression, highlighting melatonin's potential role in transitions to central precocious puberty.
26 citations
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May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
27 citations
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August 1984 in “Experimental and Molecular Pathology”
7 citations
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February 2010 in “British Journal of Dermatology” A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
13 citations
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November 2022 in “Biomaterials Science” This study demonstrated that a device combining hyaluronic acid-based dissolving microneedles and lipid polymer hybrid nanoparticles effectively delivered miR-218 to promote hair growth in a shaved mouse model, outperforming topical smear treatment without safety concerns.
April 2015 in “Andrology” This special issue contains abstracts from the ASA 40th Annual Meeting, providing an overview of various studies without reporting new primary results.
September 2023 in “Journal of the American Academy of Dermatology” Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
26 citations
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June 2003 in “PubMed” In this study, severe hair loss occurred in PKC epsilon transgenic mice treated with DFMO during skin tumor prevention, highlighting a link between polyamine biosynthesis, hair follicle maintenance, and metastasis suppression.
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.
14 citations
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August 2014 in “The FASEB Journal” This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.
April 2026 in “ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam)” 18 citations
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January 2002 in “Pediatric Dermatology” This case report describes a rare instance of cutaneous focal mucinosis in a 12-year-old Chinese girl, presented as a hypopigmented plaque on her chin.
September 2023 in “Journal of the American Academy of Dermatology” A rare benign scalp tumor in an infant requires surgical removal.
February 2022 in “Authorea (Authorea)” This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.
September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” This review discusses the clinical features of hypopigmented mycosis fungoides in primary cutaneous T cell lymphoma and reports no new clinical results.
July 2026 in “Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms”
February 2025 in “Intisari Sains Medis” This article explores the potential mechanisms by which polydeoxyribonucleotide (PDRN) could improve skin quality, slow aging, and enhance skin regeneration, but reports no new clinical findings.
7 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study shows that NIPP1 deficiency in mouse epidermis leads to hyperproliferation, hair loss, and chronic skin inflammation, which can be partially alleviated by dexamethasone treatment.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” This case report describes a 10-year-old girl with monilethrix, detailing hereditary autosomal dominant traits and distinctive nodular hair shaft abnormalities observed in her family through clinical examination and microscopic analysis.
12 citations
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February 1986 in “PubMed” This study found that newborn mice given 6-aminonicotinamide developed skin, intestinal, and central nervous system lesions, offering insights into the mechanisms of pellagra.