8 citations
,
April 2017 in “Journal of The Royal Society Interface” This study found that keratin intermediate filaments in the hair of GAN patients are altered, showing decreased diffraction signals and increased stiffness, strength, and extensibility.
128 citations
,
December 2006 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme spermidine/spermine N1-acetyltransferase in mice was associated with increased fat oxidation and a leaner phenotype, while knock-out mice exhibited increased fat accumulation.
1 citations
,
July 1991 in “PubMed” This case report describes a patient with adrenomyeloneuropathy, highlighting unusual MRI findings of high signal areas in the right striatum.
11 citations
,
November 2020 in “Movement Disorders Clinical Practice” A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
1 citations
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July 2015 in “Microscopy Research and Technique” In this study, researchers found that patients with Friedreich's ataxia exhibited more pronounced ultra-structural hair alterations compared to carriers, likely due to oxidative stress related to deficient frataxin expression.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers used a reporter mouse model to identify and characterize distinct subtypes of dopaminergic neurons in the gut's enteric nervous system, revealing novel populations with potential implications for understanding their roles and vulnerabilities in disease.
14 citations
,
June 2022 in “Neuroscience” 91 citations
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July 2004 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme SSAT in a mouse model significantly reduced prostate tumor size and progression, suggesting it could be a promising strategy against prostate cancer.
28 citations
,
September 2002 in “The Journal of Comparative Neurology” This study found that presynaptic inhibition of Aαβ cutaneous primary afferents in cats is mostly mediated by GABAergic interneurons that also contain glycine.
March 2024 in “European Journal of Neuroscience” This study, using a reporter mouse line, characterized diverse subtypes of dopaminergic neurons in the enteric nervous system, identifying unique subtypes with potential roles in gut function and disease.
9 citations
,
April 2022 in “Cell Communication and Signaling” This study found that the S100A4/NMIIA axis contributes to glioblastoma progression by recruiting and promoting migration of GBM cells along blood vessels, correlating with worse patient outcomes.
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.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
6 citations
,
January 2015 in “Biochemical Society Transactions” This review discusses the role of Ysc84/SH3yl1 proteins in linking actin regulation to membrane morphology changes but reports no new experimental results.
32 citations
,
August 2020 in “American Journal Of Pathology” This study reports that in ovarian high-grade serous carcinoma, overexpressed S100A4 likely promotes epithelial-mesenchymal transition and cancer stem cell properties, affecting tumor behavior through its interaction with NMIIA and mutant p53.
January 2026 in “Pharmaceutics” This review discusses the dual role of extracellular vesicles in Alzheimer's disease, highlighting their potential in both exacerbating and alleviating the condition, and emphasizes the need for advanced technologies to enhance diagnosis and treatment.
This study suggests that disruptions in the Ran system related to nuclear transport may be a key factor in the development of cellular issues in Hutchinson Gilford Progeria Syndrome.
103 citations
,
February 1972 in “Proceedings of the National Academy of Sciences” This study found that a unique transglutaminase in guinea pig hair-follicles, distinct from liver transglutaminase, likely plays a role in forming protein cross-links via ε(γ-glutamyl)lysine bonds.
April 2024 in “JMR. Journal of molecular recognition/Journal of molecular recognition” This study found that hydrophilic carbon dots (Lys-CA-CDs) induced bovine serum albumin to form more wormlike fibrils, while inhibiting hen egg white lysozyme from forming hair-like fibrils.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” This case report highlights the overlap of Sjögren’s Syndrome and Systemic Lupus Erythematosus, noting major salivary gland enlargement and bilateral facial nerve involvement, which may better explain the patient's symptoms than lupus alone.
113 citations
,
June 2010 in “Biological Chemistry” This study found that mice deficient in the enzyme cathepsin L exhibited impaired degradation of autophagolysosomal content, leading to an accumulation of large, abnormal vesicles in various tissues.
February 2024 in “Scientific reports” This study identified four ferroptosis-related genes, SLC40A1, LCN2, CREB5, and SLC7A11, as potential diagnostic markers for alopecia areata, revealing reduced expression in affected patients compared to controls, with a predictive model showing high accuracy in differentiating the condition.
8 citations
,
May 2017 in “IUBMB life” This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.
The researchers reported that a child with epilepsy developed encephalopathy after an asymptomatic COVID-19 infection, confirmed by clinical and laboratory assessments showing post-COVID19 effects.
28 citations
,
June 1995 in “The Journal of Dermatology” This study reports that flaky skin mice exhibit skin and nail features that closely resemble human psoriasis vulgaris, suggesting they may serve as a natural model for this condition.
6 citations
,
March 2016 in “PLoS ONE” This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.
14 citations
,
December 2001 in “Journal of autoimmunity” This study found that immunity to self-prion peptides could be induced in Lewis rats, but in older rats, it was associated with severe skin inflammation and hair loss.
14 citations
,
January 2024 in “Theranostics” In this study involving a mouse model, researchers reported that intranasal delivery of protein-based CRISPR/dCas9 nanoparticles targeting the gene *Sirt1* reduced cerebral edema and increased survival following ischemic stroke, with no significant toxicity observed.
8 citations
,
January 2024 in “Medical Principles and Practice” This study found that silencing IGFBP5 reduced neurotoxicity and motor deficits in the 6-OHDA model of Parkinson's disease, likely by affecting the SHH signaling pathway, suggesting its potential role in mitigating Parkinson’s-related neuronal damage.
13 citations
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November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.