This study presents a case of neuropsychiatric lupus in a 50-year-old woman, highlighting the severe impact on quality of life and the necessity for aggressive treatment to improve outcomes.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
5 citations
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May 2022 in “Lara D. Veeken” This study reports the first case of diverse medium-sized visceral arterial aneurysms in a patient with functionally impaired A20, potentially linked to HA20, and its atypical presentation in East Asia.
48 citations
,
April 2008 in “Human Molecular Genetics” This study found that although progerin expression in mouse skin causes significant nuclear shape changes in keratinocytes, it does not result in alopecia or common skin abnormalities seen in human Hutchinson–Gilford progeria syndrome.
2 citations
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February 2025 in “Free Radical Biology and Medicine” In a mouse model of chemotherapy-induced alopecia, this study found that inhibiting the protein S100A8 with paquinimod alleviated hair loss and reduced oxidative stress and ferroptosis, suggesting a potential therapeutic strategy for managing this side effect in chemotherapy patients.
26 citations
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January 1983 in “PubMed” This study reports that despite normal cystine incorporation into hair follicles, trichothiodystrophy patients have decreased cystine levels in hair shafts, contradicting the hypothesis of defective transport in hair follicles.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
This study found that Ca²⁺ signaling and peptidylarginine deiminase enzymes play a crucial role in activating neural stem cells in response to injury in zebrafish, suggesting potential therapeutic targets for CNS injuries and cancer.
25 citations
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June 2017 in “Neuropharmacology” This study observed that overexpressing TSPO in the hippocampal dentate gyrus of mice led to significant anxiolytic and antidepressant-like effects, potentially mediated by increased allopregnanolone synthesis.
7 citations
,
April 1996 in “British Journal of Dermatology” This study found that intermediate filaments and matrix proteins in presumptive hair shaft cells are synthesized sequentially, identifying a new polypeptide component that changes during hair cell differentiation.
7 citations
,
April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
19 citations
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January 2018 in “Scientific Reports” This study provided the first proteome dataset for alopecia areata, revealing novel pathways in the disease mechanisms that may lead to new therapeutic targets.
April 2025 in “International Journal of General Medicine” This study found that among COVID-19 patients, a higher presence of the G allele in the IFITM3 rs12252 polymorphism correlates with increased inflammatory markers and disease severity, noting higher ESR, CRP, Fibrinogen, LDH, and D-dimer levels in severe cases compared to mild ones.
18 citations
,
January 2016 in “Journal of Clinical Medicine Research” This case report describes a patient with SLE who developed acute inflammatory demyelinating polyneuropathy, experiencing significant improvement after treatment with intravenous immunoglobulin, methylprednisolone, and cyclophosphamide.
12 citations
,
July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
7 citations
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May 2005 in “Experimental Dermatology” This study reports that two mouse models of scarring alopecia exhibit similar patterns of hair loss progression despite histological differences in inflammatory cell localization and MHC class I expression.
1 citations
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January 2019 in “Open Journal of Internal Medicine” This case report describes a 19-year-old patient with systemic lupus and a composite heterozygosis SC with thalassemic component, highlighting the diagnostic challenge when symptoms of both conditions occur simultaneously.
April 1996 in “Journal of Dermatological Science” 5 citations
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August 2023 in “G3 Genes Genomes Genetics” This study developed an improved reference genome for the African spiny mouse using long Nanopore sequencing reads, potentially aiding future research into the species' remarkable tissue regeneration capabilities.
28 citations
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December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
September 2008 in “Pediatric Rheumatology” This study reports that the symptoms and immunological findings in two children with diverse autoimmune-like conditions were ultimately attributed to lysinuric protein intolerance, confirmed by genetic analysis in one child.
198 citations
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June 2013 in “Molecular psychiatry” This study found that schizophrenia-derived neurons exhibited impaired differentiation and mitochondrial dysfunction, suggesting a potential link between these factors and neurodevelopmental processes in schizophrenia.
28 citations
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November 2009 in “Journal of Structural Biology” This study found that the molecular structure of hair is more sensitive to synchrotron X-ray radiation than its supramolecular architecture, indicating potential concerns for biological analyses using such radiation.
50 citations
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June 1993 in “European journal of biochemistry” This article reviews the regulation of gene expression and assembly of intermediate filaments but presents no new findings.
10 citations
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November 2021 in “PLoS ONE” This study suggests that the T allele of the SNP rs2476601 in the PTPN22 gene may increase the risk of alopecia areata, although further studies are necessary to validate this finding across different populations.
This review explores the mechanisms and clinical applications of thymosin β4, highlighting its potential in various medical fields, but it presents no new research findings.
10 citations
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April 2003 in “Clinical neurology and neurosurgery” This case study reports a 33-year-old man with autoimmune thyroiditis and alopecia universalis experiencing reversible CNS demyelination, possibly due to autoimmune activity against CNS antigens.
60 citations
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January 2007 in “Human Genetics” In this study, researchers found that while the SNP rs6152 is strongly associated with androgenetic alopecia, the GGN triplet repeat is not, suggesting the causative variant is likely a non-coding one.