research KCNQ Potassium Channels Modulate Sensitivity of Skin Down-Hair (D-Hair) Mechanoreceptors
KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
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research Skin Cancer: Understanding the Transformation from Conventional to Advanced Treatment Approaches
New treatments like nanotechnology show promise in improving skin cancer therapy.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Mammary Cells with Active Wnt Signaling Resist ErbB2-Induced Tumorigenesis
Cells with active Wnt signaling are less likely to turn into cancer when exposed to a cancer-causing gene.
research South Asian Epidemic of Antifungal Therapeutic Failures: Congress Proceedings and Take-home Messages. First International Congress of SAARCUM: South Asian Alliance Against Recalcitrant Cutaneous Mycosis. 17 November 2018, Medanta – The Medicity, Gurugram, India
The congress concluded that misuse of antifungal drugs in South Asia has led to widespread treatment failure, and new approaches and regional cooperation are needed.
research Logic-Based Modeling and Drug Repurposing for the Prediction of Novel Therapeutic Targets and Combination Regimens Against E2F1-Driven Melanoma Progression
Tadalafil and Finasteride may help treat aggressive melanoma.
research A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Mechanical Anisotropy of Hair Affected by Genetic Diseases Highlights Structural Information Related to Differential Crosslinking in Keratins
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 Genetics of Hidradenitis Suppurativa
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne Type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research First-In-Man Clinical Trial of the Oral Pan-AKT Inhibitor MK-2206 in Patients With Advanced Solid Tumors
MK-2206 was safe and effectively blocked AKT signaling in cancer patients, warranting more trials.
research Wnt/β-Catenin Signaling: Function, Biological Mechanisms, and Therapeutic Opportunities
The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
research Epigenetics of Colorectal Cancer
Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Biotin And Biotinidase Deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Regulation of Keratin 9 in Nonpalmoplantar Keratinocytes by Palmoplantar Fibroblasts Through Epithelial-Mesenchymal Interactions
Nonpalmoplantar skin cells can be made to express keratin 9 by interacting with palmoplantar fibroblasts.
research Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Inhibition of Mitochondrial Respiration Prevents BRAF-Mutant Melanoma Brain Metastasis
Stopping mitochondrial respiration can prevent brain cancer spread in skin cancer patients, and plant compound β-sitosterol could help achieve this.
research Anticancer Effects of Metformin on Neuroendocrine Tumor Cells In Vitro
Metformin may help treat neuroendocrine tumors.
research Hedgehog Pathway Inhibitors Against Tumor Microenvironment
Hedgehog pathway inhibitors can treat certain aggressive cancers but face limitations like resistance and side effects.
research Discovery of a Transdermally Deliverable Pentapeptide for Activating AdipoR1 to Promote Hair Growth
A new small peptide may help hair growth by activating a specific receptor and should be tested in humans.
research Keratin-6 Driven ODC Expression in Hair Follicle Keratinocytes Enhances Stemness and Tumorigenesis by Negatively Regulating Notch
ODC overexpression in hair cells increases tumor growth by reducing Notch signaling.
research Protein Degradation: Expanding the Toolbox to Restrain Cancer Drug Resistance
Using protein degradation to fight cancer drug resistance shows promise but needs more precise targeting and fewer side effects.
research Targeting the Hippo/YAP/TAZ Signalling Pathway: Novel Opportunities for Therapeutic Interventions into Skin Cancers
Blocking YAP/TAZ could be a new way to treat skin cancer.
research Different Ligands of the TRPV3 Cation Channel Cause Distinct Conformational Changes as Revealed by Intrinsic Tryptophan Fluorescence Quenching
Different ligands change the shape of the TRPV3 ion channel in unique ways.