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 Supercritical CO2 Extraction of Rice Bran Oil –the Technology, Manufacture, and Applications
Supercritical CO2 extraction makes rice bran oil healthier and safer than traditional methods.
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 Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
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 Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease
Histone demethylases can change gene expression and may be linked to diseases like cancer.
research Improving human forensics through advances in genetics, genomics and molecular biology
DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
research Relative changes in the pattern of diseases presenting in dermatology outpatient clinic in the era of the COVID ‐19 pandemic
During the COVID-19 pandemic, a clinic in Turkey saw fewer patients but more cases of certain skin conditions, possibly linked to the virus and stress.
research Teriflunomide (Aubagio®) for the treatment of multiple sclerosis
Teriflunomide is an effective and generally safe oral treatment for relapsing MS, reducing relapses and slowing disability progression.
research Teriflunomide in Patients with Relapsing–Remitting Forms of Multiple Sclerosis
Teriflunomide is effective and generally safe for treating relapsing-remitting multiple sclerosis.
research Teriflunomide in multiple sclerosis: an update
Teriflunomide effectively reduces relapses and disability in MS and has a manageable safety profile.
research The Role of the Slc39a Family of Zinc Transporters in Zinc Homeostasis in Skin
Certain zinc transporters are essential for healthy skin and managing zinc in the body could help treat skin problems.
research Multiple sclerosis disease-modifying therapies: adverse effect surveillance and management
The document concludes that managing side effects of MS therapies is crucial for treatment success and patient adherence.
research Teriflunomide: a novel oral treatment for relapsing multiple sclerosis
Teriflunomide is an effective and safe first-line oral treatment for relapsing multiple sclerosis.
research Cardiodermatology: the heart of the connection between the skin and cardiovascular disease
Skin conditions can signal heart issues, highlighting the need for integrated care.
research Anticytokine therapy, particularly anti-IFN-γ, in Th1-mediated autoimmune diseases
Blocking interferon-gamma might help treat various autoimmune diseases.
research Functional ectodermal organ regeneration as the next generation of organ replacement therapy
The document concludes that regenerating functional ectodermal organs like teeth and hair is promising for future therapies.
research “Nail loss after teriflunomide treatment: A new potential adverse event”
Nail loss may be a side effect of the MS drug teriflunomide.
research Differential impact of environmental factors on systemic and localized autoimmunity
Environmental factors like diet and vitamin levels, especially Vitamin D, can affect autoimmune diseases differently, with lifestyle changes potentially improving outcomes.
research Current Status of the Applications of Conditioned Media Derived from Mesenchymal Stem Cells for Regenerative Medicine
Conditioned media from mesenchymal stem cells show promise for tissue repair and disease treatment, but more research is needed on their safety and effectiveness.
research Role of the Wnt signaling pathway in keratoacanthoma
The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
research Modelling of the composition of emulsion medicines and cosmetics stabilized by a biocomplex of surfactant substances based on rhamnolipids Pseudomonas sp. PS-17
A semi-automated system can effectively help choose emulsion ingredients, simplifying the creation of medicinal and cosmetic products.
research Bolu Yöresindeki Multipl Skleroz Hastalarında Görülen Dermatolojik Bulgular
MS patients often have skin issues, so regular skin checks are important.
research The Role of Histone Demethylases in Disease
Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
research EXPLORING THE ROLE OF UMBILICAL CORD AND CORD BLOOD IN REGENERATIVE MEDICINE
Umbilical cord and cord blood stem cells are promising for treating chronic diseases due to their versatility and ethical acceptability.
research Wybrane zagadnienia z zakresu produkcji surowców, żywności i kosmetyków, t. 3
Bee pollen, green tea, essential oils, and various plant extracts improve skin and hair health.