April 1974 in “Pediatric Research” This study found that hair from mice with the Naked trait mutation has significantly lower levels of glycine and tyrosine, suggesting a deficiency in a specific protein fraction.
3 citations
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September 2008 in “Current signal transduction therapy” This article reviews the role of glycogen synthase kinase-3 in various diseases and recent developments in GSK-3 inhibitors, without reporting any new clinical findings.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
15 citations
,
October 1976 in “Biochemical Journal” This study found that Naked trait mice exhibit a decrease in certain low-molecular-weight proteins in their hair, which contain high levels of glycine and tyrosine, compared to normal mice.
8 citations
,
January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.
4 citations
,
August 2018 in “Journal of cellular biochemistry” This study found that sustained intracellular acidosis in mice was associated with shortened lifespan, early aging signs, and impaired autophagy.
9 citations
,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.
April 2026 in “ACS Applied Materials & Interfaces” In this study, Sper-12/siRNA nanoparticles effectively suppressed abnormal AR protein levels, promoted hair follicle proliferation, and alleviated hair loss symptoms in androgenetic alopecia model mice, providing a promising delivery platform for siRNA-based therapeutics.
January 2017 in “Brazilian Journal of Pharmaceutical Sciences” This study identified neprilysin as a potential target of the pharmacological agent arteannuin, which may guide future research into its clinical applications, although experimental verification is needed.
17 citations
,
July 2017 in “Molecular and Cellular Endocrinology” The authors reviewed the mechanisms behind Kennedy's disease, noting advances in therapeutic strategies such as androgen deprivation and gene silencing that may soon expand treatment options for this incurable neuromuscular condition.
35 citations
,
August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
41 citations
,
July 2018 in “Frontiers in Neurology” This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
28 citations
,
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.
January 2014 in “International Journal of Case Reports and Images” This case report describes a 62-year-old woman diagnosed with undifferentiated connective tissue disease and renal amyloidosis, presenting symptoms like joint pain, Raynaud's phenomenon, and carpal tunnel syndrome.
November 2025 in “Figshare” In this study, six metabolic reprogramming-related genes, including SQSTM1, were significantly associated with alopecia areata, with elevated SQSTM1 mRNA and protein levels observed in affected hair follicles compared to healthy controls.
17 citations
,
April 2006 in “Brain Research” This study found that stimulation with certain neurotransmitters and hormones suggests the involvement of 5α-reduced neurosteroids in glial cell differentiation in rat C6 glioma cells.
5 citations
,
January 2015 in “Molecular Genetics and Metabolism” 175 citations
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December 1980 in “Archives of Dermatology” In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.
3 citations
,
April 2009 in “Congestive Heart Failure” This case study illustrated that a patient's severe autonomic neuropathy due to amyloidosis prevented the expected development of heart failure symptoms despite significant cardiac abnormalities.
3 citations
,
April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
54 citations
,
February 2002 in “Carcinogenesis” This study suggests that activation of polyamine catabolism in K6-SSAT transgenic mice may significantly increase skin tumor development and progression to carcinomas following chemical induction.
May 2026 in “European Cells and Materials” In this study, researchers developed a novel delivery system using hyaluronic acid gels to encapsulate Huperzine A for Alzheimer's treatment, achieving extended release over 20 days and significantly improving pathology and behavior in mice, including enhanced memory and reduced neuroinflammation.
12 citations
,
July 2015 in “Tissue Antigens” In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.
June 2026 in “The Egyptian Journal of Neurology Psychiatry and Neurosurgery” This review discusses the potential of mesenchymal stem cells and their secretome, mainly extracellular vesicles, in Parkinson's disease therapy, highlighting their neuroprotective abilities and therapeutic prospects, but it reports no clinical results.
65 citations
,
September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
This study found that mouse type II spiral ganglion neurites in vitro avoided laminin and high concentrations of fibronectin, indicating both can guide neurite paths differently than type I neurites.
6 citations
,
January 2018 in “Advances in experimental medicine and biology”
25 citations
,
December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
26 citations
,
September 2009 in “Clinical genetics” This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.
8 citations
,
October 2022 in “International Journal of Molecular Sciences” This review explores the potential of self-amplifying RNA technology for protein replacement therapy in various health disorders but reports no new experimental results, indicating challenges remain for clinical approval.