research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
Search
for
Sort by
Research
30 / 63 results 
research Skin Barrier, Phenotypic and Genotypic Characterization of Autosomal Recessive Ichthyosis in TGM1-Deficient Jack Russell Terriers and Response to Topical Ceramide
Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
research Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Microarray Analysis of Androgenetic and Senescent Alopecia: Comparison of Gene Expression Shows Two Distinct Profiles
The conclusion is that androgenetic alopecia and senescent alopecia have unique gene changes, suggesting different causes and potential treatments for these hair loss types.
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 Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research The Estrogen Receptor 2 (ESR2) Gene in Female-Pattern Hair Loss: Replication of Association with rs10137185 in German Patients
ESR2 gene linked to female-pattern hair loss.
research Development of a Novel Three-Dimensional Human Epidermal Model from Plucked Hair Follicle-Derived Keratinocytes
Scientists created a new 3D skin model from cells of plucked hairs that works like real skin and is easier to get.
research The Immune Functions of Keratinocytes in Skin Wound Healing
Keratinocytes help heal skin wounds by interacting with immune cells and producing substances that kill pathogens.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research The Proximal Promoter of the Human Transglutaminase 3 Gene
The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research KGF And EGF Signaling Block Hair Follicle Induction And Promote Interfollicular Epidermal Fate In Developing Mouse Skin
EGF and KGF signalling prevent hair follicle formation and promote skin cell development in mice.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Management of Congenital Ichthyoses: European Guidelines of Care, Part Two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Hedgehog Signaling Maintains Hair Follicle Stem Cell Phenotype in Young and Aged Human Skin
Hedgehog signaling helps keep hair follicle stem cells the same in both young and old human skin.
research Hair Follicle Stem Cell Cultures Reveal Self-Organizing Plasticity of Stem Cells and Their Progeny
The study showed that hair follicle stem cells can maintain and organize themselves in a lab setting, keeping their ability to renew and form hair and skin.
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 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 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 Symmetry Breaking of Tissue Mechanics in Wound-Induced Hair Follicle Regeneration of Laboratory and Spiny Mice
Tissue stiffness affects hair follicle regeneration, and Twist1 is a key regulator.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function
Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
research Comparative Gene Expression Profiling of Senescent and Androgenetic Alopecia Using Microarray Analysis
SA linked to mitochondrial issues and oxidative stress, while AGA involves disrupted hair growth genes.
research Darier Sign: A Historical Note
Dermatologists diagnose and manage melanoma more effectively than general practitioners.
research Growth Factor Mimetics for Skin Regeneration: In Vitro Profiling of Primary Human Fibroblasts and Keratinocytes
SUN11602 and ONO-1301 could help in skin healing and creating artificial skin.
research AP-2α/AP-2β Transcription Factors Are Key Regulators of Epidermal Homeostasis
AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.