research Book Reviews
Both books are useful for professionals, but "Exacting Beauty" is more comprehensive and practical.
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research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research 565 hiPSC-derived skin organoids as tools for disease modelling: characterization of the epidermal-dermal junction
Human-induced stem cell-created skin models can help understand skin diseases by studying the skin's layers.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Turing patterns in development: what about the horse part?
Turing patterns are now recognized as important in developmental biology.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Internal peacekeepers and external mediators: A new model of peripheral immune tolerance involving regulatory T cells and mesenchymal stem cells
Regulatory T cells and mesenchymal stem cells work together to prevent immune system overreactions and tissue damage.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments
iPSCs help understand and treat neurodevelopmental disorders.
research Erratum
The document contains an error.
research Kaleidoscope
Countries with stricter cultures had fewer COVID-19 cases and deaths, paranoia is linked to false memories, psychosocial intervention works as well with or without antipsychotic drugs for young people with psychosis, smartphones can detect changes in behavior indicating illness relapse, and recruitment agents show regional and gender biases.
research In vitro strategies for mimicking dynamic cell–ECM reciprocity in 3D culture models
The conclusion is that accurately replicating the complexity of the extracellular matrix in the lab is crucial for creating realistic human tissue models.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Matrix effects and application of matrix effect factor
Matrix effects in LC-MS can be managed but not completely avoided.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research The imperfect beauty
Modern society values both traditional beauty and imperfections, but media pressures lead to more cosmetic enhancements and ethical concerns.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Optimizing skin disease diagnosis: harnessing online community data with contrastive learning and clustering techniques
Researchers improved a skin disease diagnosis model using online images, achieving up to 49.64% accuracy.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Animal models of psoriasis—highlights and drawbacks
Animal models help study psoriasis but have limitations and don't fully mimic the human disease.
research Reflections on Process Research II
research Pharmacophore Models for Toxicology Prediction
Pharmacophore models can predict liver toxicity and central nervous system toxicity, but they have limitations and specific requirements.
research Group-ICA Model Order Highlights Patterns of Functional Brain Connectivity
Choosing the right model order in brain connectivity analysis can affect the detection of differences between healthy individuals and those with seasonal affective disorder.