research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
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240-270 / 1000+ resultsresearch Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research Discovery and Optimization of Novel Pyridines as Highly Potent and Selective Glycogen Synthase Kinase 3 Inhibitors
This study reports that a novel series of compounds can potently and selectively inhibit glycogen synthase kinase-3, which activates glycogen synthase in insulin receptor-expressing cells and primary rat hepatocytes.
research Association of Anti-Signal Recognition Particle Myopathy with Systemic Lupus Erythematosus
This case report describes a young girl with a rare association of anti-SRP positive necrotizing autoimmune myopathy and systemic lupus erythematosus, who responded well to corticosteroid treatment.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
research Sry Transcript Expression in Five Adult Male Rat Tissues and Correlation with Acsl3 Transcript Expression
In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
This report presents the first documented case of CARASIL in an Arabic patient and notes unique magnetic resonance spectroscopy findings compared to prior cases.
research Recombinant Human Annexin A5 Ameliorates Localized Scleroderma by Inhibiting the Activation of Fibroblasts and Macrophages
This study found that Annexin A5 significantly reduced fibrosis and inflammation in both preventive and therapeutic contexts in a bleomycin-induced localized scleroderma mouse model, demonstrating its potential anti-fibrotic and anti-inflammatory effects for treating fibrotic diseases.
research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
research Hair trace elementary profiles in aging rodents and primates: links to altered cell homeodynamics and disease
research Allopregnanolone, the active metabolite of progesterone protects against neuronal damage in picrotoxin-induced seizure model in mice
research Progesterone and allopregnanolone enhance the miniature synaptic release of glycine in the rat hypoglossal nucleus
This study found that progesterone can increase glycine release in rat brainstem neurons through its conversion to allopregnanolone, which modulates presynaptic GABA receptor activity.
research 821 Pigmentation and autophagy in alopecia areata pathogenesis
This research explores the potential role of the Stx17 protein in hair pigmentation processes and Alopecia Areata, suggesting possible links to the disease's progression.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
research rs4541843 G > A variant near miR-182 is associated with susceptibility, severity, and increased hsa-miR-182-5p expression in alopecia areata
In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.
research Autoantibodies in Pediatric SLE: Cluster Analysis and Clinical Associations, a Single Centre Cohort Study
This study observed distinct clusters of autoantibodies in children with pSLE, with significant differences in several clinical manifestations like hair loss, oral ulcers, arthritis, neurological symptoms, renal issues, and AIHA among the clusters.
research Sequence Analysis of mtDNA NADH-Ubiquinone Oxidoreductase Chain 1 Gene (ND1) of the Asian Black Bear Sichuan Subspecies (Ursus thibetanus mupinensis)
This study identified that the ND1 gene sequence of the Asian black bear's Sichuan subspecies shares high similarity with those of other bear species, raccoons, and Ailurus fulgens.
research Evaluation of hair structural abnormalities in children with different neurological diseases
This study reported that hair microscopy can help diagnose rare pediatric neurological diseases, as specific hair characteristics were linked to conditions like giant axonal neuropathy, Griscelli syndrome, and Menkes disease.
research Expression of Calcium-Binding S100 Proteins A4 and A6 in Regions of the Epithelial Sac Associated with the Onset of Hair Follicle Regeneration
This study suggests that S100A4 and S100A6 proteins may play key roles in activating stem cells for hair follicle regeneration in mice.
research Clinical Significance of Dense Fine Speckled Pattern in Anti-nuclear Antibody Test using Indirect Immunofluorescence Method
This study found that the DFS pattern occurs in about 28% of ANA-positive cases and is relatively frequent in autoimmune diseases, contrary to previous observations suggesting no link with these diseases.
research Neuropsychiatric lupus in a Nigerian teenager
This case report describes a teenager with Systemic Lupus Erythematosus experiencing neuropsychiatric symptoms, highlighting diagnostic criteria and laboratory findings, but reports no new treatment outcomes.
research A young male with kidney damage from genetic mitochondrial disease: case report and literature review
In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
research PLAU and SerpinB2 role in apoptosis in leprosy
PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
This article presents a case of Werner syndrome complicated by idiopathic membranous nephropathy, suggesting a possible but unproven genetic link between the two conditions.