research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
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240-270 / 1000+ results research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research In Vitro differentiation of hair-follicle bulge stem cells into synaptophysin-expressing neurons: a potential new approach for neuro-regeneration
Hair follicle stem cells can be turned into neuron-like cells, offering a new way for brain repair.
research Significance of the S100A4 Protein in Psoriasis
The S100A4 protein is more common in psoriatic skin and could be a target for treating psoriasis.
research Autoantibodies in Pediatric SLE: Cluster Analysis and Clinical Associations, a Single Centre Cohort Study
Different autoantibody groups in pediatric SLE are linked to specific symptoms and disease outcomes.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Cerebronal® food supplement improve status of markers ofdementia and regeneration
Cerebronal® may help improve certain brain health markers.
research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research Four Closure
Certain astrocytes can protect the brain and improve recovery after a stroke, and a hair loss drug might reduce cancer spread.
research Long-lived proteins and DNA as candidate predictive biomarkers for tissue associated diseases
Long-lived proteins may predict age-related diseases.
research Neuropsychiatric lupus in a Nigerian teenager
A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.
research Three-Dimensional Analysis of Sex- and Gonadal Status- Dependent Microglial Activation in a Mouse Model of Parkinson’s Disease
Sex and sex hormones can affect brain inflammation in Parkinson's disease, with male mice being more affected and female mice showing a protective effect.
research Apoptosis and keratin intermediate filaments
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research A(1-7) reduces pathologies associated with SLE in MRL-lpr mice
A(1-7) treatment reduces symptoms of lupus in mice.
research Overexpression of the 18 kDa translocator protein (TSPO) in the hippocampal dentate gyrus produced anxiolytic and antidepressant-like behavioural effects
Increasing TSPO in the brain reduces anxiety and depression.
research Differential proteomics of lesional vs. non-lesional biopsies revealed non-immune mechanisms of alopecia areata
Non-immune factors play a significant role in alopecia areata.
research P53 Acute west nile virus infection in an SLE patient – diagnostic and therapeutic challenges
SLE patients need careful diagnosis to distinguish infections from disease flares for proper treatment.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Update on detection, morphology and fragility in pili annulati in three kindreds
Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
research Absence of Heart Failure in Severe Cardiac and Autonomic Amyloidosis: The Essential Role of Sympathetic Activation and Venous Tone in the Development of the Congestive Heart Failure Syndrome
Sympathetic activation and venous tone are crucial for heart failure symptoms.
research Clinical Significance of Dense Fine Speckled Pattern in Anti-nuclear Antibody Test using Indirect Immunofluorescence Method
The dense fine speckled pattern in ANA tests is common in autoimmune diseases, challenging previous beliefs that it was unrelated.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Toxicity of the immune suppressant cyclosporin A in the rat
Cyclosporin A is highly toxic to rats, causing severe health issues and death.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.