research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
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research Mutation-Specific siRNA Knockdown of GJB2: Potential Gene Therapy for Keratitis-Ichthyosis-Deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Porokeratotic Eccrine and Hair Follicle Nevus: A Report of Two Cases and Review of the Literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Porokeratotic Adnexal Ostial Nevus: A Paradigm of Cutaneous Mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Ichthyosiform Erythroderma: A Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Porokeratotic Eccrine Ostial And Dermal Duct Nevus And Porokeratotic Eccrine And Hair Follicle Nevus: Is Nomenclature 'Porokeratotic Adnexal Ostial Nevus' More Appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Connexin 26 (GJB2) Mutations in Keratitis–Ichthyosis–Deafness Syndrome Presenting with Squamous Cell Carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Stabilizing Mutations of KLHL24 Ubiquitin Ligase Cause Loss of Keratin 14 and Human Skin Fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Dietary Fat- and Obesity-Sensitive Dermal Adipocyte PKCβ Induction and Inflammation Cross-Talk
Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.
research Paraoxonase 1 (PON1) L55M and Q192R Polymorphisms, Lipid Profiles, and Psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research Development of an Intrinsic Skin Sensor for Blood Glucose Level with CRISPR-Mediated Genome Editing in Epidermal Stem Cells
Researchers created a skin graft that senses blood glucose and could treat diabetes using CRISPR-edited stem cells.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
research Transcriptomics Identifies Potential Novel Therapeutic Targets in Androgenetic Alopecia
Found new possible treatments for hair loss.
research Pioneer Factors Govern Super-Enhancer Dynamics in Stem Cell Plasticity and Lineage Choice
Super-enhancers controlled by pioneer factors like SOX9 are crucial for stem cell adaptability and identity.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development
Chemokine signaling is important for hair development.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research The TFIID Subunit TAF4 Regulates Keratinocyte Proliferation and Has Cell-Autonomous and Non-Cell-Autonomous Tumor Suppressor Activity in Mouse Epidermis
TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
research Genome-Wide Association Study of Skin Complex Diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
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 Porokeratotic Adnexal Ostial Nevus: Review on the Entity and Therapeutic Approach
Laser treatments are the most effective for porokeratotic adnexal ostial nevus.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Hair and Nail Relationship: A Comparative Study
Hair and nails are similar keratin structures with different shapes and growth, affected by the same diseases and environmental factors.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Molecular Pathology of Skin Adnexal Tumors
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research Revisiting the Significance of Keratin Expression in Complex Epithelia
Keratin genes change gradually during skin cell development and should be used carefully as biomarkers.