Understanding Genotype–Phenotype Correlations of Desmoplakin Splice Site Variants
Fuente:
Wiley Open Access
Enregistré dans:
| Auteurs principaux: | Maria C. Bolling, Mathilde C. S. C. Vermeer |
|---|---|
| Format: | Artículo Open Access |
| Publié: |
Wiley
2025
|
| Sujets: | |
| Accès en ligne: | |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Documents similaires
Evidence of a Dose‐Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association
par: Giulia Pascolini, et autres
Publié: (2024)
par: Giulia Pascolini, et autres
Publié: (2024)
Recommendations on single‐cell RNA sequencing of skin xenografts in the study of genetic skin diseases
par: Franciscus C. Vermeer, et autres
Publié: (2024)
par: Franciscus C. Vermeer, et autres
Publié: (2024)
Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP‐mutated keratinocytes
par: Daniela Andrei, et autres
Publié: (2024)
par: Daniela Andrei, et autres
Publié: (2024)
Bi‐Allelic DSG1 Splice‐Site Variant Identified in a Family With Non‐Syndromic Striate Palmoplantar Keratoderma
par: Sohail Ahmed, et autres
Publié: (2025)
par: Sohail Ahmed, et autres
Publié: (2025)
IKZF1 and Ikaros Overexpression Results in Alopecia Areata‐Like Phenotype in Mice
par: Yukiyasu Arakawa, et autres
Publié: (2025)
par: Yukiyasu Arakawa, et autres
Publié: (2025)
Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed‐Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype–Phenotype Correlation in Nine Cases
par: Min‐Chia Yang, et autres
Publié: (2025)
par: Min‐Chia Yang, et autres
Publié: (2025)
Contribution of Phenotypic Age Acceleration and Body Mass Index to Psoriasis Risk in US Adults
par: Yun‐Ni Lin, et autres
Publié: (2026)
par: Yun‐Ni Lin, et autres
Publié: (2026)
Hidradenitis Suppurativa Preclinical Studies: Models and Results
par: Christos C. Zouboulis
Publié: (2025)
par: Christos C. Zouboulis
Publié: (2025)
Memory T‐Cell Phenotype in Cutaneous T‐Cell Lymphoma Is Modified by Germline Gene Gametocyte Specific Factor 1
par: Amelia Martínez Villarreal, et autres
Publié: (2025)
par: Amelia Martínez Villarreal, et autres
Publié: (2025)
Clinical Validation of Imaging Biomarkers in Mycosis Fungoides
par: Selinde S. Wind, et autres
Publié: (2026)
par: Selinde S. Wind, et autres
Publié: (2026)
Evaluation of Sézary cell marker expression and cell death behaviour upon in vitro treatment by flow cytometry in Sézary syndrome patients
par: S. Melchers, et autres
Publié: (2024)
par: S. Melchers, et autres
Publié: (2024)
CD 24 in Melanoma: Biomarker, Innate Immune Checkpoint and Emerging Therapeutic Target
par: Claudia Lasalle, et autres
Publié: (2026)
par: Claudia Lasalle, et autres
Publié: (2026)
The rhythms of histones in regeneration: The epigenetic modifications determined by clock genes
par: Ericka J. D. da Silveira, et autres
Publié: (2024)
par: Ericka J. D. da Silveira, et autres
Publié: (2024)
13th European Hidradenitis Suppurativa (EHSF) e.V. Conference—Imaging Future Transitions
par: Christos C. Zouboulis, et autres
Publié: (2025)
par: Christos C. Zouboulis, et autres
Publié: (2025)
The First Reported Japanese Case of PNPLA1‐Nonsyndromic Epidermal Differentiation Disorder (PNPLA1‐nEDD) Associated With an Unreported 92‐Base‐Pair Duplication Variant
par: Shiori Kato, et autres
Publié: (2025)
par: Shiori Kato, et autres
Publié: (2025)
Visible Light‐Induced Pigmentation: Improved In Vivo Methodology for Measuring Efficacy of 30 Products in 9 Randomised Controlled Trials and Correlation With In Vitro Assessment
par: Pascale Renoux, et autres
Publié: (2025)
par: Pascale Renoux, et autres
Publié: (2025)
The role of mast cells and related molecules in itch of hidradenitis suppurativa
par: Mika Yamanaka‐Takaichi, et autres
Publié: (2024)
par: Mika Yamanaka‐Takaichi, et autres
Publié: (2024)
Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis
par: J. J. A. J. van der Velden, et autres
Publié: (2024)
par: J. J. A. J. van der Velden, et autres
Publié: (2024)
Eosinophils in hidradenitis suppurativa patients exhibit pro‐inflammatory traits, implicating a potential pathogenic role in the disease
par: Yael Renert‐Yuval, et autres
Publié: (2024)
par: Yael Renert‐Yuval, et autres
Publié: (2024)
Redefine photoprotection: Sun protection beyond sunburn
par: Mirja van Bodegraven, et autres
Publié: (2024)
par: Mirja van Bodegraven, et autres
Publié: (2024)
Nerve Fibres in Psoriatic Skin and Their Relation to Vasculature and Clinical Parameters
par: Meagan Doppegieter, et autres
Publié: (2025)
par: Meagan Doppegieter, et autres
Publié: (2025)
Precision at the Cutting Edge: Ex Vivo Confocal Microscopy for Perioperative Tumour Thickness Assessment in Melanoma
par: D. Hartmann, et autres
Publié: (2025)
par: D. Hartmann, et autres
Publié: (2025)
Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8‐Month‐Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome
par: Hannah C. Tolson, et autres
Publié: (2025)
par: Hannah C. Tolson, et autres
Publié: (2025)
Enhancing Early Detection of Metastatic Cutaneous Squamous Cell Carcinoma (CSCC): Integrating AI With Histopathological Assessments
par: E. M. Bramer, et autres
Publié: (2025)
par: E. M. Bramer, et autres
Publié: (2025)
CLDN1 knock out keratinocytes as a model to investigate multiple skin disorders
par: Kimberly A. Arnold, et autres
Publié: (2024)
par: Kimberly A. Arnold, et autres
Publié: (2024)
Gram‐negative anaerobes elicit a robust keratinocytes immune response with potential insights into HS pathogenesis
par: Samuel C. Williams, et autres
Publié: (2024)
par: Samuel C. Williams, et autres
Publié: (2024)
Putting AI Chatbots to the Test: A Comparative Analysis of Large Language Models' Performance in the Context of Basal Cell Carcinoma
par: Vinzent K. Ortner, et autres
Publié: (2025)
par: Vinzent K. Ortner, et autres
Publié: (2025)
Capillary Venous Malformation With Undergrowth and Activating PIK3CA Variant: An Underrecognized Phenotype
par: Alexa G. Ries, et autres
Publié: (2025)
par: Alexa G. Ries, et autres
Publié: (2025)
Genetic polymorphisms to identify patients with an optimal response to tildrakizumab in psoriasis patients from real‐life clinical practice
par: B. Butrón‐Bris, et autres
Publié: (2024)
par: B. Butrón‐Bris, et autres
Publié: (2024)
Altered Sensory and Stress Responses in Atopic Dermatitis: Effects of Acute Stress on Lesional and Non‐Lesional Skin
par: Macarena Tejos‐Bravo, et autres
Publié: (2025)
par: Macarena Tejos‐Bravo, et autres
Publié: (2025)
Serum Proteomic Profiling Uncovers Dysregulated Keratinisation and Immune‐Related Pathways in Hidradenitis Suppurativa
par: Chiara Moltrasio, et autres
Publié: (2026)
par: Chiara Moltrasio, et autres
Publié: (2026)
Alterations of circulating free fatty acids in patients with pemphigus vulgaris
par: Roberto Maglie, et autres
Publié: (2024)
par: Roberto Maglie, et autres
Publié: (2024)
Increased loss‐of‐function filaggrin gene mutation prevalence in atopic dermatitis patients across northern latitudes indicates genetic fitness: A systematic review and meta‐analysis
par: Casper Milde Khatib, et autres
Publié: (2024)
par: Casper Milde Khatib, et autres
Publié: (2024)
Solitary Genitogluteal Porokeratosis With Multiple Cornoid Lamellae: A Phenotypic Bridge Between Mibelli and Penoscrotal Variants
par: Takahito Kanetake, et autres
Publié: (2026)
par: Takahito Kanetake, et autres
Publié: (2026)
Efficacy and Safety of Topical Delgocitinib for Chronic Hand Eczema: A Systematic Review and Meta‐Analysis of Randomized Controlled Trials
par: Rafaela de Moraes‐Souza, et autres
Publié: (2026)
par: Rafaela de Moraes‐Souza, et autres
Publié: (2026)
PTEN Hamartoma Tumor Syndrome/Cowden Syndrome With Diffuse Sebaceous Gland Hyperplasia: Description of an Atypical Phenotype and a Previously Undescribed Pathogenic Variant
par: Alberto Soto‐Moreno, et autres
Publié: (2025)
par: Alberto Soto‐Moreno, et autres
Publié: (2025)
Topical Application of Fluoxetine Improves DNCB‐Induced Atopic Dermatitis in Mice
par: Xue Jiang, et autres
Publié: (2025)
par: Xue Jiang, et autres
Publié: (2025)
Role of Siglec‐E in MC903‐Induced Atopic Dermatitis
par: Mari Nakanishi, et autres
Publié: (2025)
par: Mari Nakanishi, et autres
Publié: (2025)
Semaphorin 7a Regulates the Expression of IL‐4 and IL‐33 in a Cell Model of Atopic Dermatitis and Is Associated With Disease Severity
par: Mindy Ming‐Huey Guo, et autres
Publié: (2025)
par: Mindy Ming‐Huey Guo, et autres
Publié: (2025)
New Characteristics of Eccrine Sweat Glands in Acquired Idiopathic Generalised Anhidrosis as Determined via Three‐Dimensional Fluorescence Imaging of Cleared Skin Tissue
par: Satoshi Yoshida, et autres
Publié: (2025)
par: Satoshi Yoshida, et autres
Publié: (2025)
Documents similaires
-
Evidence of a Dose‐Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association
par: Giulia Pascolini, et autres
Publié: (2024) -
Recommendations on single‐cell RNA sequencing of skin xenografts in the study of genetic skin diseases
par: Franciscus C. Vermeer, et autres
Publié: (2024) -
Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP‐mutated keratinocytes
par: Daniela Andrei, et autres
Publié: (2024) -
Bi‐Allelic DSG1 Splice‐Site Variant Identified in a Family With Non‐Syndromic Striate Palmoplantar Keratoderma
par: Sohail Ahmed, et autres
Publié: (2025) -
IKZF1 and Ikaros Overexpression Results in Alopecia Areata‐Like Phenotype in Mice
par: Yukiyasu Arakawa, et autres
Publié: (2025)