4 citations
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May 2023 in “Pigment Cell & Melanoma Research” In this study, researchers found that deleting the Bmi1 gene in murine melanocytes caused premature hair greying and loss of melanocyte lineage cells, highlighting BMI1's role in protecting melanocyte stem cells from stress and oxidative damage.
April 1981 in “Pediatric research” This study found that abnormal liver and kidney copper metabolism in Br females had no clinical effects, whereas defective brain copper metabolism in Br males was clinically significant.
This study observed that methylene blue, a mitochondrial-targeted antioxidant, promotes hair follicle stem cell proliferation and viability through reduced oxidative stress and enhanced β-catenin signaling, and it may also protect against hair loss related to glucagon-like peptide-1 receptor agonists by reducing metabolic stress.
2 citations
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November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that metabolic adaptations in skin epithelial stem cells, specifically redox ratio recovery and glycolytic flux modulation, define competitive outcomes between wild-type and mutant cells in different oncogenic environments.
25 citations
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May 2004 in “Prenatal Diagnosis” This study suggests that prenatal genetic diagnosis of MELAS syndrome using amniotic cells may not reliably predict fetal outcomes due to phenotypic diversity observed in siblings with similar levels of mutant mtDNA.
December 2021 in “Research Square (Research Square)” In this study, high expression of S100A4 in glioblastoma was associated with worse patient survival and promoted tumor progression by enhancing pro-tumorigenic vascular functions.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
79 citations
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March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
March 2026 in “Bioengineering & Translational Medicine” This study reported that a modified version of Thymosin beta 4, called PEG-rTβ4, demonstrated potential as a treatment for acute myocardial infarction by improving cardiac function and reducing cell death via specific biochemical pathways, suggesting its promise in drug development efforts.
September 2024 in “Bulletin of the Russian Military Medical Academy” This study assessed iron deficiency among 135 young female military personnel, finding that 35.6% had latent iron deficiency and 34% had iron deficiency anemia, with symptoms more pronounced in those with anemia, yet iron deficiency did not significantly affect physical activity levels.
This study found that the dark pigmentation pattern in Dun Mongolian horses' "Bider marking" is closely associated with higher protein levels and specific localization of MITF and WNT3A, suggesting these are key factors in its formation.
32 citations
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January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
April 2016 in “Journal of The American Academy of Dermatology” A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
This study demonstrated that Reverse Protein Engineering can decrease the size of Firefly Luciferase from 550 to less than 80 amino acids, but further research is needed to ensure these smaller peptides retain bioluminescent activity.
1 citations
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December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
11 citations
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January 1992 in “PubMed” In this study, the researchers found distinct patterns of TGF-beta 1 and IGF-II expression in pig fetal subcutaneous tissue, suggesting specific regulatory roles in developing adipocytes and muscle tissue.
5 citations
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January 1998 in “Clinical and experimental dermatology” This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.
October 2022 in “Amplla Editora eBooks” 77 citations
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August 1986 in “Archives of Dermatology” This report describes a case in which intramuscular cyanocobalamin treatment reversed skin and nail pigmentation changes and premature gray hair caused by vitamin B12 deficiency due to pernicious anemia.
January 2011 in “대한피부과학회지” This article reports a case of trichothiodystrophy in a 7-year-old girl with sulfur deficiency in her hair, characterized by sparse, slow-growing hair and distinctive tiger tail banding under microscopy.
17 citations
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August 2015 in “PLoS ONE” This study found that deferiprone significantly reduced dermal fibrosis and skin thickness in mice with chronic kidney disease treated with Omniscan, suggesting iron's role in gadolinium chelate toxicity and nephrogenic systemic fibrosis.
July 2026 in “Pharmaceuticals” This review examined mechanisms regulating muscle repair, highlighting disruptions in aging and chronic diseases like Duchenne muscular dystrophy and diabetes. It noted that chronic inflammation and metabolic dysfunction hinder effective regeneration and discussed emerging therapies, suggesting multi-target approaches could be promising despite limited clinical evidence.
January 2006 in “Atherosclerosis Supplements”
10 citations
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June 2018 in “Journal of visualized experiments” This study demonstrated that lactate dehydrogenase activity is notably high in quiescent hair follicle stem cells within mouse skin using a specific enzymatic activity assay.
12 citations
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January 1987 in “Ophthalmic Paediatrics and Genetics” This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.
1 citations
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January 1986 in “PubMed” This case report describes a young patient with a unique combination of dysmorphism, bullous eruption, skin and muscle atrophy, and hyperpigmentation that doesn't fit existing nosological categories.
March 2022 in “International Journal of Current Science Research and Review” This article describes subclinical ketosis in pregnant cows and associates it with several metabolic changes and clinical signs, reporting decreased levels of hemoglobin and glucose and increased ketone bodies.
4 citations
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August 2025 in “Scientific Reports” This study found that hair analysis is an effective non-invasive method for assessing metabolic fluctuations, showing stable advanced glycation end products levels that correlate with age and differ significantly between diabetic and non-diabetic rats.
70 citations
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February 2009 in “Biological Trace Element Research”
August 2016 in “PolyPublie (École Polytechnique de Montréal)” This study observed early cardiac effects in young minipigs following high-dose doxorubicin chemotherapy, with a decrease in heart function and changes in cardiac MRI measurements compared to controls.