research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Bidirectional Association Between Alopecia Areata and Migraine: A Nationwide Population-Based Cohort Study
People with alopecia areata are more likely to get migraines, and vice versa.
research Systemic Lupus Erythematosus: Vasculopathy/Vasculitis, Susac Syndrome, and Myasthenia Gravis
Systemic lupus erythematosus is an autoimmune disease causing diverse symptoms and major organ involvement.
research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Epidermal Keratinocytes Regulate Bacterial Immune Responses and Host Defense Through EGFR
EGFR inhibitors cause skin issues and hair loss by weakening skin defenses, suggesting antibiotics and targeted treatments can help.
research The Cascading Pathogenic Consequences of Sarcoptes Scabiei Infection That Manifest in Host Disease
Sarcoptes scabiei infection causes significant health and behavior changes in wombats.
research Cutaneous Manifestations in COVID-19: Report on 31 Cases from Five Countries
Some COVID-19 patients have different skin problems, which might be the only sign of the virus or related to other health issues.
research Cyclosporine-Induced Folliculodystrophy
Cyclosporine can cause a unique skin condition called "cyclosporine-induced folliculodystrophy."
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 Nutritional Intervention Alleviates Signs of Dermatological Problems in Dogs by Modulating Immune Regulation and Skin Microbiome
A special diet can significantly reduce skin problems in dogs.
research Wound Microbiota and Its Impact on Wound Healing
Wound healing is greatly affected by the types of bacteria present, which can either help or hinder the process.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Early Arabidopsis Root Hair Growth Stimulation by Pathogenic Strains of Pseudomonas Syringae
Pathogenic Pseudomonas syringae bacteria stimulate early root hair growth in Arabidopsis plants.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Enanthem in Patients With COVID-19 and Skin Rash
Minoxidil can improve hair growth in some patients with woolly hair due to LIPH variants, with varying responses and mild side effects.
research Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
research Coinheritance of BRCA2 and CYLD Germline Pathogenic Variants Associated with Targetable Metastatic Malignant Cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants
Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
research Targeting Pathogenic MICA-NKG2D Interactions by Statins: A Novel Adjunct Treatment Strategy for Alopecia Areata Management?
Statins may help treat alopecia areata by reducing harmful immune interactions.
research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Skin Organoids Derived From NCSTN Mutated Patient-Induced Pluripotent Stem Cells Recapitulate Hidradenitis Suppurativa Pathogenic Hallmarks
Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
research Sex Hormones Modulate Pathogenic Processes in Experimental Traumatic Brain Injury
Sex hormones affect brain injury differently in males and females.
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.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Adenosine A2B Receptor: A Pathogenic Factor and a Therapeutic Target for Sensorineural Hearing Loss
Blocking adenosine A2B receptor may prevent or treat hearing loss.