research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
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research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Cerebellar Changes in Guinea Pig Offspring Following Suppression of Neurosteroid Synthesis During Late Gestation
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Emerging Strategies in Smart Nano-PROTAC for Stimuli-Responsive Protein Degradation and Precision Cancer Therapy
Smart nano-PROTACs improve cancer treatment by targeting proteins more precisely and reducing side effects.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research 02 Management of difficult infections in SLE
Managing severe infections in SLE patients requires tailored treatment strategies.
research Development of the CLASI as an outcome instrument for cutaneous lupus erythematosus
The CLASI is a reliable tool for measuring the severity of cutaneous lupus erythematosus.
research Role of Csdc2 in Regulating Secondary Hair Follicle Growth in Cashmere Goats
Csdc2 helps hair growth in cashmere goats by regulating specific genes.
research Chromatographic method for clobetasol propionate determination in hair follicles and in different skin layers
A new method accurately measures clobetasol propionate in hair and skin.
research Small Molecule Treatments Improve Differentiation Potential of Human Amniotic Fluid Stem Cells
Small molecule treatments improve the ability of human amniotic fluid stem cells to become different cell types.
research scMC learns biological variation through the alignment of multiple single-cell genomics datasets
scMC effectively separates biological signals from technical noise in single-cell genomics data.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Comprehensive Case Analysis: Diagnosing and Managing Myositis in Newly Diagnosed Systemic Lupus Erythematosus Patients in Indonesia.
Early diagnosis and treatment of myositis in SLE patients lead to positive outcomes.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research OA08 Ocrelizumab in pregnancy in a patient with juvenile onset systemic lupus erythematosus
Ocrelizumab helped control lupus in a pregnant patient, leading to the birth of a healthy baby.
research Characterization of the serotoninergic system in the C57BL/6 mouse skin
Mouse skin can produce and process serotonin, with variations depending on hair cycle, body location, and mouse strain.
research Estrogenic Potential of 2-Alkyl-4-(thio)chromenone 6-O-Sulfamates: Potent Inhibitors of Human Steroid Sulfatase
A substance called Compound 2g can strongly block STS (a hormone-related enzyme) without affecting estrogen levels, making it potentially good for treating breast cancer.
research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression
Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
research Resequencing Analyses Revealed Genetic Diversity and Selection Signatures during Rabbit Breeding and Improvement
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
research Optimization of Nanostructured Lipid Carriers (NLC) Extract Crude Fucoidan Algae Brown (Sargassum chrysanthemum): Design and Characterization
The developed carrier may improve hair growth treatments using brown algae extract.
research Fabrication and Characterization of Electrospun Membranes Based on “Poly(ε-caprolactone)”, “Poly(3-hydroxybutyrate)” and Their Blend for Tunable Drug Delivery of Curcumin
The PCL/PHB blend allows for slower, more controlled curcumin release than individual polymers.
research TTNPB Promotes Human Pluripotent Stem Cell‐to‐Neural Stem Cell Transition via Modulation of Chromatin Accessibility and the S‐(5′‐adenosyl)‐L‐homocysteine/Choline Metabolic Network
TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
research Simultaneous determination of 30 hormones illegally added to anti-ageing functional foods using UPLC-MS/MS coupled with SPE clean-up
New method effectively detects illegal hormones in anti-aging foods.
research Single-Cell Sequencing Technology in Ruminant Livestock: Challenges and Opportunities
Single-cell sequencing can improve livestock health and productivity but faces challenges in precise cell analysis.
research 5-Aminolevulinic acid improves chicken sperm motility
5-Aminolevulinic acid can help chicken sperm move better at the right amount.
research Comparison of clinical characteristics among different time of disease onset in patients with systemic lupus erythematosus patients
Juvenile-onset lupus patients have more severe symptoms and need stronger treatment.