Associated Papers
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.
Grosjean I et al.
Autophagy, 2022
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
Single-nucleotide polymorphisms in inflammatory bowel disease.
Neuman MG et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2012
NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients.
Meggyesi N et al.
World Journal of Gastroenterology, 2010
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
Fisher SA et al.
Nature Genetics, 2008
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Hamada T et al.
The Journal of Investigative Dermatology, 2003
Epidermodysplasia verruciformis in lipoid proteinosis: case report and discussion of pathophysiology.
O'Blenes C et al.
Pediatric Dermatology, 0
ATG16L1 T300A polymorphism is associated with Crohn's disease in a Northwest Greek cohort, but ECM1 T130M and G290S polymorphisms are not associated with ulcerative colitis.
Tsianos VE et al.
Annals of Gastroenterology, 0