Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease.
DeVore SB et al.
Cell Reports, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Paediatric pustulotic arthro-osteitis patient with an IL36RN variant, heterozygous c.115+6T>C, who was successfully treated with tonsillectomy: A case report and literature review.
Takami K et al.
Experimental Dermatology, 2024
A viewpoint on the genetic determinants of generalised pustular psoriasis.
Capon F
Experimental Dermatology, 2023
Clinical profile of patients with acute generalized pustular psoriasis with and without IL36RN mutations in multi-ethnic Johor Bahru, Malaysia.
Choon SE et al.
Experimental Dermatology, 2023
A homozygous loss-of-function variant in the MPO gene is associated with generalized pustular psoriasis.
Onitsuka M et al.
The Journal of Dermatology, 2023
Prevalence, comorbidities and mortality of generalized pustular psoriasis: A literature review.
Prinz JC et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
The role of the CBM complex in allergic inflammation and disease.
DeVore SB et al.
The Journal of Allergy and Clinical Immunology, 2022
A review of disease burden and clinical management for generalized pustular psoriasis in China.
Lu J et al.
Expert Review of Clinical Immunology, 2022
Psoriasis: An Immunogenetic Perspective.
Kocaaga A et al.
Global Medical Genetics, 2022
Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.
Sugiura K
Dermatology and Therapy, 2022
Case of annular pustular psoriasis/circinate erythematous psoriasis induced by hydroxychloroquine in a patient with systemic lupus erythematosus: Possible association with CARD-14 mutation.
Midorikawa H et al.
The Journal of Dermatology, 2021
Generalized Pustular Psoriasis: Divergence of Innate and Adaptive Immunity.
Samotij D et al.
International Journal of Molecular Sciences, 2021
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021
An update on genetic basis of generalized pustular psoriasis (Review).
Zhou J et al.
International Journal of Molecular Medicine, 2021
Significance of IL36RN mutation analyses in the management of impetigo herpetiformis: A case report and review of published cases.
Yoshikawa M et al.
The Journal of Dermatology, 2021
"Autoinflammatory psoriasis"-genetics and biology of pustular psoriasis.
Uppala R et al.
Cellular & Molecular Immunology, 2021
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.
Umar M et al.
Journal of Cellular and Molecular Medicine, 2020
Clinical characteristics, genetics, comorbidities and treatment of palmoplantar pustulosis: A retrospective analysis of 66 cases in a single center in Taiwan.
Huang CM et al.
The Journal of Dermatology, 2020
Regulation and dysregulation of CARD14 signalling and its physiological consequences in inflammatory skin disease.
Mellett M
Cellular Immunology, 2020
Two cases of CARD14-associated papulosquamous eruption from India.
Chiramel MJ et al.
Pediatric Dermatology, 2020
Impetigo herpetiformis with a CARD14 Thr79Ile variant successfully treated with granulocyte and monocyte adsorption apheresis.
Fujii K et al.
The Journal of Dermatology, 2020
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.
Cancer Biomarkers : Section a of Disease Markers, 2020
Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis.
Huang Y et al.
Journal of Genetics, 2020
Tumor necrosis factor -238A is associated with pediatric-onset generalized pustular psoriasis in Han patients in Eastern China.
Zhao L et al.
The Journal of Dermatology, 2019
Case of generalized pustular psoriasis with coexisting mutations in IL36RN and CARD14.
Sawabe Y et al.
The Journal of Dermatology, 2019
A novel CARD14 variant, homozygous c.526G>C (p.Asp176His), in an adolescent Japanese patient with palmoplantar pustulosis.
Tobita R et al.
Clinical and Experimental Dermatology, 2019
Generalized Pustular Psoriasis With CARD14 Variant c.526G>C (p.Asp176His) Successfully Treated With Granulocyte and Monocyte Adsorption Apheresis.
Fujii A et al.
Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2019
Clinical and genetic differences between pustular psoriasis subtypes.
Twelves S et al.
The Journal of Allergy and Clinical Immunology, 2019
Terbinafine-induced generalized pustular psoriasis in a patient carrying CARD14 mutation.
Sakai H et al.
The Journal of Dermatology, 2019
Rare CARD14 missense variants associated with palmoplantar pustulosis (PPP) in the Chinese Han population.
Fu F et al.
European Journal of Dermatology : Ejd, 2019
Investigation of Psoriasis Susceptibility Loci in Psoriatic Arthritis and a Generalized Pustular Psoriasis Cohort.
Zhang Z et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2018
CARD14 Gain-of-Function Mutation Alone Is Sufficient to Drive IL-23/IL-17-Mediated Psoriasiform Skin Inflammation In Vivo.
Mellett M et al.
The Journal of Investigative Dermatology, 2018
Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin.
Akiyama M et al.
Journal of Dermatological Science, 2018
The genetic basis for most patients with pustular skin disease remains elusive.
Mössner R et al.
The British Journal of Dermatology, 2018
CARD14/CARMA2 Signaling and its Role in Inflammatory Skin Disorders.
Zotti T et al.
Frontiers in Immunology, 2018
Clinical and Genetic Heterogeneity of CARD14 Mutations in Psoriatic Skin Disease.
Israel L et al.
Frontiers in Immunology, 2018
CARD14-Mediated Activation of Paracaspase MALT1 in Keratinocytes: Implications for Psoriasis.
Van Nuffel E et al.
The Journal of Investigative Dermatology, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
One SNP at a Time: Moving beyond GWAS in Psoriasis.
Ray-Jones H et al.
The Journal of Investigative Dermatology, 2016
CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts.
Ammar M et al.
The British Journal of Dermatology, 2016
Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
Berki DM et al.
The Journal of Investigative Dermatology, 2015
Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.
Mössner R et al.
The Journal of Investigative Dermatology, 2015
Childhood-onset PsA in Down syndrome with psoriasis susceptibility variant CARD14 rs11652075.
Sugiura K et al.
Rheumatology (oxford, England), 2015
Variant analysis of CARD14 in a Chinese Han population with psoriasis vulgaris and generalized pustular psoriasis.
Qin P et al.
The Journal of Investigative Dermatology, 2014
IL36RN mutations underlie impetigo herpetiformis.
Sugiura K et al.
The Journal of Investigative Dermatology, 2014