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.
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660-690 / 1000+ results research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Phenotypic Heterogeneity of Epidermolysis Bullosa Associated With the Recurrent Pathogenic Variant p.(Arg2000Trp) in Plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research 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 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 Hyposecretion of the Adrenal Androgen Dehydroepiandrosterone Sulfate (DHEA-S) in the Majority of Alopecia Areata Patients: Is It a Primitive and Pathogenic Perturbation of the Hypothalamic-Pituitary-Adrenal Axis?
Low DHEA-S levels might be linked to alopecia areata and could be a potential treatment target.
research MiR-199a-3p Regulates the PTPRF/β-Catenin Axis in Hair Follicle Development: Insights into the Pathogenic Mechanism of Alopecia Areata
miR-199a-3p controls hair growth and is linked to alopecia areata.
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 Faculty Opinions Recommendation of Association of Topical Minoxidil with Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants
research In Vivo and In Vitro Exposure to Free Fatty Acids Induce Increased Androgen Production in Animal Models: A Potential Pathogenic Factor of Polycystic Ovary Syndrome
Free fatty acids may increase androgen production, potentially contributing to polycystic ovary syndrome.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Cyclosporine-Induced Folliculodystrophy
Cyclosporine can cause a unique skin condition called "cyclosporine-induced folliculodystrophy."
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 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.
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 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 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 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 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 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: 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 Cardiovascular Features in Adult Individuals Affected with Tatton-Brown-Rahman Syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Polycystic Ovary Syndrome: Clinical Aspects
The document says that understanding the causes of PCOS is important for treatment, especially in distinguishing the syndrome from just having cystic ovaries, and that losing weight is key for obese women with PCOS.
research Combined Drug Triads for Synergistic Neuroprotection in Retinal Degeneration
Using three different drugs together may better treat eye diseases like glaucoma and macular degeneration.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Hair Disorders in Patients with Cancer
Cancer treatments often cause hair disorders, significantly affecting patients' quality of life, and better management methods are needed.
research Hidradenitis Suppurativa and Comorbid Disorder Biomarkers, Druggable Genes, New Drugs and Drug Repurposing—A Molecular Meta-Analysis
The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.