November 2024 in “Human Cell” This study found that treating rat whisker follicle stem cells with retinoic acid and epidermal growth factor induced them to express synaptophysin, a marker of mature neurons, although there was a reduction in other neural markers, suggesting potential for neuro-regeneration applications.
October 2017 in “Data Archiving and Networked Services (DANS)” This thesis found that in lupus nephritis, traditional classification criteria may not apply to patients with glomerular deposits without clinical SLE, indicating distinct prognostic and diagnostic challenges.
July 2022 in “Journal of Investigative Dermatology” Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
11 citations
,
July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
6 citations
,
March 1991 in “Journal of Radioanalytical and Nuclear Chemistry” Manganese levels in hair may be linked to multiple sclerosis.
November 2005 in “Physiology” This article highlights advances in various physiological studies, including vitamin E's potential to improve aging-related outcomes in mice, but does not present new experimental results.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
11 citations
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March 2014 in “Journal of The European Academy of Dermatology and Venereology” In this study, researchers found that androgen receptor gene polymorphism is associated with higher androgenetic alopecia grades and PSA levels in men with benign prostatic hyperplasia, but not with prostate cancer.
64 citations
,
April 1992 in “Differentiation” This study identified Sciellin, a new protein precursor to the cornified envelope in keratinocytes, with unique solubility properties hinting at its potential role in envelope assembly.
January 2026 in “Cytokine” September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
April 2023 in “Journal of Investigative Dermatology” This study found that patients with Stevens-Johnson syndrome and toxic epidermal necrolysis exhibit lower levels and activity of DNase1, impairing NET degradation, and suggests DNase1 administration as a potential treatment.
31 citations
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May 2021 in “Journal of endocrinological investigation” This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.
January 2009 in “IRIS UNIMORE (University of Modena and Reggio Emilia)” This study suggests that neurosteroids may influence epileptogenesis in a pilocarpine model of temporal lobe epilepsy, as indicated by the modulation of seizure activity following P450 scc upregulation and finasteride treatment in rats.
179 citations
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June 2000 in “The American journal of pathology” This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.
1 citations
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September 2023 in “Frontiers in Genetics” This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
This study suggests that targeting the increased expression of SIX1 in systemic sclerosis may be a viable strategy for addressing dermal fibrosis.
17 citations
,
April 2013 in “Experimental and Therapeutic Medicine” This study found that anti-Sjögren's syndrome type B antibodies are highly specific for diagnosing systemic lupus erythematosus and are associated with several clinical symptoms, including cheek erythema and alopecia.
15 citations
,
August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
2 citations
,
January 2025 in “Journal of Nanobiotechnology” This study demonstrated that genetically engineered, ATP-responsive nanozymes effectively reduce cardiac fibrosis by targeting activated cardiac fibroblasts, resulting in decreased myofibroblast accumulation and improved cardiac function, suggesting that this approach has significant potential for therapeutic applications.
January 2024 in “Wiadomości Lekarskie” This source reports that clinical trials using advanced Deep Brain Stimulation systems, augmented with AI to integrate kinematic data, eye tracking, and cognitive assessments, show promise in improving diagnostic accuracy and monitoring symptoms for patients with Parkinson's disease.
11 citations
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November 1991 in “Journal of Neuropathology & Experimental Neurology” This study found that brindled mottled mice, a model of Kinky hair syndrome, exhibited abnormal development of catecholamine neurons, with increased TH-immunoreactive neurons and altered neurochemical profiles compared to controls.
46 citations
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November 1997 in “Journal of Neural Transmission” Seborrhea in Parkinson's disease may be linked to hormones, not autonomic impairment.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
9 citations
,
July 2014 in “PubMed” This study found distinct localization patterns of S100 family proteins in hair follicles, suggesting their differential roles in normal hair follicle physiology.
19 citations
,
March 2020 in “Journal of Functional Foods” This study found that golden silk mature silkworm powder improved cognition and neuron proliferation in mice, potentially by enhancing mitochondrial function and countering scopolamine-induced amnesia.
14 citations
,
February 2009 in “PLoS ONE” This study found that the enzyme glutamine synthetase is distributed throughout the epidermis and its activity in keratinocytes is notably increased by ammonium ions, suggesting the skin serves as a reservoir for glutamine generation.
5 citations
,
May 2018 in “PloS one” This study demonstrated that both classical and atypical BSE strains from cattle can be transmitted to goats, highlighting the importance of surveillance in protecting public health.