January 2024 in “International journal of molecular sciences” This study found that boosting the synthesis of neural-derived 17β-estradiol effectively counteracted the impairment of hippocampal long-term potentiation caused by amyloid beta 1-42 in rat hippocampal slices, with the effect seemingly linked to glutamate NMDAR signaling.
29 citations
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January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.
12 citations
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May 2006 in “Journal of Neurology Neurosurgery & Psychiatry” Neuromyotonia and morphoea can occur together in the same body areas.
1 citations
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October 2022 in “Veterinary pathology” This study found cutaneous keratinic amyloid deposition in dogs and identified cytokeratin 5 as an amyloid precursor protein, revealing new insights into the etiology of cutaneous amyloidosis.
4 citations
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February 2022 in “International Journal of Molecular Sciences” This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.
January 2024 in “Wiadomości Lekarskie” This study found that in prodromal Alzheimer's disease, pro-inflammatory gut bacteria were associated with reduced cerebral blood flow and reactivity, while beneficial gut bacteria correlated with better outcomes.
2 citations
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June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.
1 citations
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February 2025 in “Journal of the Neurological Sciences” This study suggests that BTP levels in cerebrospinal fluid might help diagnose CIDP and predict therapy response but require validation in larger cohorts.
40 citations
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September 2004 in “Biomacromolecules” In this study, molecular dynamics simulations indicated that the Glu413Lys mutation in human hair keratin significantly affects the stability of coiled coil structures, whereas Glu413Asp showed no impact on stability.
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.
11 citations
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January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
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.
110 citations
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January 1995 in “European Journal of Neuroscience” This study found that glycinergic synapses in the rat spinal cord are predominantly associated with gephyrin, though gephyrin may also be present at non-glycinergic synapses.
January 1990 in “Advances in behavioral biology” 3 citations
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March 2024 in “iScience” This study found that long-lived proteins in mice, identified across various tissues, may be linked to neurodegenerative and cardiovascular diseases due to their low renewal rate and increased risk of damage.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that anti-Ku-positive patients exhibit heterogeneous muscle features, primarily showing a myositis pattern with necrotizing fibers and vacuolar changes, and suggests autophagy may play a significant role in their pathogenesis.
September 2025 in “Dicle Medical Journal / Dicle Tip Dergisi” In this retrospective study, researchers found that fungal infections, xerosis, eczematous dermatitis, and seborrheic dermatitis were the most common dermatological findings among patients with Parkinson's disease, Multiple Sclerosis, and Amyotrophic Lateral Sclerosis, with significant intergroup differences observed.
104 citations
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December 2004 in “Journal of Neurochemistry” This study found that androgens, specifically DHT, induced neurite outgrowth in motor neurons by up-regulating the neuritin protein, with testosterone being less effective.
November 2025 in “Frontiers in Immunology” In this study, researchers found significant links between specific metabolic reprogramming-related genes and alopecia areata risk, highlighting increased SQSTM1 expression in affected hair follicles compared to healthy ones.
4 citations
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April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study presents an improved reference genome for the African spiny mouse, which may aid in understanding its tissue regeneration at the molecular level.
42 citations
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September 2002 in “The Journal of Comparative Neurology” This study found that in the dorsal horn's lamina III, most afferent boutons form synapses with presynaptic boutons immunoreactive for GABA and/or glycine, influencing sensory pathways.
2 citations
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March 2019 in “Journal of Histochemistry and Cytochemistry” This study found that NNAT is localized in both undifferentiated and differentiated cells across various rat tissues and has cell-specific intracellular localization, suggesting distinct functional roles.
October 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study investigated NNAT expression in embryonic and postnatal rat tissues, finding its localization in both undifferentiated and differentiated cells across tissues such as the pancreas, tongue, and testis.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
1 citations
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January 1971 in “Acta dermato-venereologica” Mice hair follicles take in the amino acid cystine.
1 citations
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April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” This study identified gene sets associated with Tourette Syndrome, implicating Ligand-gated Ion Channel Signaling, Lymphocytic, and Cell Adhesion and Trans-synaptic Signaling processes in the disorder's neurobiology.
39 citations
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December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.