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
The Role of Genetics on Psoriasis Susceptibility, Comorbidities, and Treatment Response.
Bui A et al.
Dermatologic Clinics, 2024
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
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
Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.
Atschekzei F et al.
Rmd Open, 2022
Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.
Sugiura K
Dermatology and Therapy, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
An update on genetic basis of generalized pustular psoriasis (Review).
Zhou J et al.
International Journal of Molecular Medicine, 2021
Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.
Shiraki M et al.
Children (basel, Switzerland), 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
Coatopathies: Genetic Disorders of Protein Coats.
Dell'Angelica EC et al.
Annual Review of Cell and Developmental Biology, 2019
Clinical and genetic differences between pustular psoriasis subtypes.
Twelves S et al.
The Journal of Allergy and Clinical Immunology, 2019
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.
Mahil SK et al.
The Journal of Investigative Dermatology, 2016
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
Newly recognized Mendelian disorders with rheumatic manifestations.
de Jesus AA et al.
Current Opinion in Rheumatology, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
Setta-Kaffetzi N et al.
American Journal of Human Genetics, 2014
Generalized pustular psoriasis (von Zumbusch).
Romiti R et al.
Anais Brasileiros De Dermatologia, 0