8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
22 citations
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March 2007 in “European journal of pediatrics” This study found that scanning electron microscopy revealed considerable abnormalities in hair morphology in MPS I, II, IIIA, and IIIB patients, potentially related to heparan sulfate accumulation.
6 citations
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July 2009 in “Biomolecules & therapeutics” This study found that combining MSM with MAP significantly enhanced hair growth in mice, comparable to or better than minoxidil, due to increased intradermal retention of MAP.
14 citations
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July 2015 in “International Journal of Molecular Sciences” This study found that S-Methylmethionine sulfonium (SMMS) enhances cell survival and reduces damage from UVB irradiation in skin cells, suggesting its potential as a cosmetic ingredient for UV protection.
49 citations
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August 1999 in “Journal of Investigative Dermatology” In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.
29 citations
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January 2017 in “Journal of Investigative Dermatology” This study found that increased MSI2 expression in hair follicle stem cells can delay hair growth by maintaining stem cell quiescence and repressing Hedgehog signaling.
17 citations
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August 2015 in “Journal of Animal Science” In this study, researchers found that specific SNPs in the MTR gene are significantly associated with wool production and quality traits in Chinese Merino sheep, suggesting the gene's potential for sheep breeding.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
158 citations
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December 2002 in “Development” In this study, Msx2-deficient mice showed progressive hair loss due to shortened anagen phase and prolonged catagen and telogen phases, resulting in cyclic alopecia with structurally abnormal hair shafts.
6 citations
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March 1991 in “Journal of Radioanalytical and Nuclear Chemistry” Manganese levels in hair may be linked to multiple sclerosis.
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.
18 citations
,
March 2006 in “Expert Review of Neurotherapeutics” This review outlines strategies for preventing, identifying, and managing complications related to current MS therapies and reports no new clinical results, emphasizing the growing complexity in MS treatment regimens.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
6 citations
,
September 2020 in “Frontiers in Neurology” This study reported that the coexistence of myasthenia gravis and primary Sjögren's syndrome is rare, and managing the progress of myasthenia gravis is crucial for treatment, while it does not adversely impact Sjögren's syndrome.
1 citations
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February 2023 in “Tropical Journal of Pharmaceutical Research” This study found that polysulfonic acid mucopolysaccharide may reduce skin scarring in rats by influencing the TGF-β1/Smad signaling pathway.
1 citations
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August 2021 in “Canadian journal of neurological sciences” This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.
5 citations
,
November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
28 citations
,
November 2013 in “The FASEB journal” In this study, a low-methionine diet significantly improved the health and physical traits of cystathionine β-synthase-deficient mice, contrasting with negative effects on mice with partial deficiency.
5 citations
,
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.
November 2025 in “International Journal of Bio-resource and Stress Management” This review discusses MRSA in dogs and its public health impact, highlighting interspecies transmission and the need for improved infection control and biosecurity measures, but reports no new experimental results.
This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.
April 2014 in “The Journal of Sexual Medicine” This publication compiles abstracts from the 19th Annual Fall Meeting of the Sexual Medicine Society of North America, highlighting advancements and discussions in various areas of sexual medicine without reporting new research results.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.
October 2025 in “Journal of the Endocrine Society” This case report documented the management of a 46-year-old female with Marine-Lenhart syndrome, combining antithyroids with minimally invasive sclerotherapy to achieve euthyroidism and reduce thyroid nodule size by 58%.
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.
13 citations
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January 2015 in “Stem cells international” This article reviews the complex roles and therapeutic potential of Mesenchymal Stem Cells across various medical applications, emphasizing their anti-inflammatory and tissue repair functions rather than cell replacement or differentiation, and concludes that more precise measurement of their survival and effectiveness is needed.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
3 citations
,
March 2019 in “American Journal of Dermatopathology” This case report presents the first documented instance of basal cell carcinoma and cutaneous leiomyosarcoma occurring as a collision neoplasm in the same biopsy specimen.
35 citations
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January 2022 in “Frontiers in Neurology” This review utilizes clinical vignettes to detail various pain syndromes associated with multiple sclerosis, including their pathophysiology and management strategies, highlighting conditions like central neuropathic pain, Lhermitte's phenomenon, and trigeminal neuralgia as they relate to different lesion types.
September 2016 in “Journal of Dermatological Science” This study found that knockout mice lacking SMS1 showed reduced body weight and hair loss, indicating a role for SMS1 in normal growth and hair health.