research 062 A case of autoimmune facial swelling, weakness and sensorineuropathy with lower limb myositis
The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
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research Dissimilar effects of the hydrophilic carbon dots on the amyloid aggregation of two model proteins and the mechanism discussion
Hydrophilic carbon dots cause one protein to clump more and prevent another from clumping.
research Activated Polyamine Catabolism Depletes Acetyl-CoA Pools and Suppresses Prostate Tumor Growth in TRAMP Mice
Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
research Electron microscopic and autoradiographic study of S35-L-cystine incorporation in mouse hair follicles
Mice hair follicles take in the amino acid cystine.
research Cleave but not leave: Astrotactin proteins in development and disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Specific Citrullination Causes Assembly of a Globular S100A3 Homotetramer
A specific chemical change in the S100A3 protein leads to the formation of a four-part structure important for hair formation.
research Characterizing enteric neurons in Dopamine Transporter (DAT)-Cre reporter mice reveals dopaminergic subtypes with dual-transmitter content
Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Abnormal Saccadic Oscillations Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Encephalopathy and Ataxia
A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Identification of neprilysin as a potential target of arteannuin using computational drug repositioning
Arteannuin might work against cancer and Alzheimer's by targeting neprilysin.
research S100A4/Nonmuscle Myosin IIA/p53 Axis Contributes to Aggressive Features in Ovarian High-Grade Serous Carcinoma
S100A4 promotes aggressive ovarian cancer and is a potential treatment target.
research Function and interactions of the Ysc84/SH3yl1 family of actin- and lipid-binding proteins
The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
research Table 1_Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study.docx
SQSTM1 is linked to increased risk of alopecia areata.
research Inflammasome Proteins Are Reliable Biomarkers of the Inflammatory Response in Aneurysmal Subarachnoid Hemorrhage
Inflammasome proteins can predict inflammation and outcomes in aneurysmal subarachnoid hemorrhage.
research Androgens Regulate Tau Phosphorylation Through Phosphatidylinositol 3-Kinase–Protein Kinase B–Glycogen Synthase Kinase 3β Signaling
research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
research Identification of SLC40A1, LCN2, CREB5, and SLC7A11 as ferroptosis-related biomarkers in alopecia areata through machine learning
Four genes are potential markers for hair loss condition alopecia areata, linked to a specific type of cell death.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
A gene mutation causes woolly hair in a Syrian patient.
research Beta-trace protein in chronic inflammatory demyelinating polyradiculoneuropathy and Guillain-Barré syndrome – clinical utilization and a new insight into pathophysiological mechanisms
Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.
research Locally Synthetized 17-β-Estradiol Reverses Amyloid-β-42-Induced Hippocampal Long-Term Potentiation Deficits
A brain-made hormone can protect against memory-related brain damage caused by harmful proteins.
research Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Characterizing enteric neurons in dopamine transporter (DAT)‐Cre reporter mice reveals dopaminergic subtypes with dual‐transmitter content
Dopaminergic neurons in the gut have diverse subtypes with different neurotransmitter contents.
research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study
SQSTM1 gene issues may increase the risk of alopecia areata.