research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
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270-300 / 1000+ resultsresearch Network-based identification genetic effect of SARS-CoV-2 infections to Idiopathic pulmonary fibrosis (IPF) patients
SARS-CoV-2 may worsen IPF due to shared genes and pathways, suggesting potential drug targets.
research Faculty Opinions recommendation of Hidradenitis suppurativa as a potential subtype of autoinflammatory keratinization disease.
Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
research Epigenetics and Other Autoimmune Skin Diseases
Epigenetic changes contribute to autoimmune skin diseases.
research The impact of certain genetic variants (single nucleotide polymorphisms) on incidence and severity of COVID‐19
Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Alopecia Areata and Atopic Dermatitis: Common Mechanisms and Emerging Therapeutics
Alopecia areata and atopic dermatitis share immune system issues, and treatments like JAK inhibitors can help both.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases
The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
research Advances in molecular pathogenesis of hidradenitis suppurativa: Dysregulated keratins and ECM signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Alopecia areata associated with idiopathic primary hypophysitis
Autoimmunity can cause both alopecia areata and idiopathic primary hypophysitis.
research Genetic Variants and Protective Immunity against SARS-CoV-2
Genetic differences affect how people respond to COVID-19.
research The role of the skin microbiome in the development of alopecia areata
The skin's bacteria might influence the development of a hair loss condition called alopecia areata.
research The crosstalk between PTEN ‐induced kinase 1‐mediated mitophagy and the inflammasome in the pathogenesis of alopecia areata
Targeting mitophagy may help treat alopecia areata by reducing inflammasome activation.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Pathogenesis in Trichorrhexis Invaginata (Bamboo Hair)
research Network-Based Approaches Reveal Potential Therapeutic Targets for Host-Directed Antileishmanial Therapy Driving Drug Repurposing
Researchers identified five new potential targets for leishmaniasis treatment, suggesting repurposing existing drugs could be effective.
research Characterization of factors that determine lentiviral vector tropism in skin tissue using an ex vivo model
Lentiviral vector effectiveness in skin is influenced by external factors, not receptor availability.
research Molecular basis of hypohidrotic ectodermal dysplasia: an update
Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
research Animal models of human skin disease
Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
research Modern concept of the etiology and pathogenesis of androgenetic alopecia
Nonandrogenic factors like oxidative stress and microinflammation are important in hair loss progression.
research Genetic factors in the etiology of intervertebral disc herniation and protrusion
Genetic factors play a crucial role in the development of intervertebral disc herniation and protrusion.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Association of atopic dermatitis with autoimmune diseases: A bidirectional and multivariable two-sample mendelian randomization study
Atopic dermatitis increases the risk of some autoimmune diseases.
research 1616 Cross-comparison of inflammatory skin disease transcriptomics identifies PTEN as a pathogenic disease classifier in cutaneous lupus erythematosus
PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
PTCH gene mutations contribute to basal cell carcinoma development.