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
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Establishment and characterization of a novel MDM2/MYCN-co-amplified neuroblastoma cell line, NBN-SHIM, established from a late recurrent stage MS tumor.
Kato K et al.
Human Cell, 2024
Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation.
Meyer BJ et al.
Journal of Clinical Immunology, 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
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Early-Stage Induction of SWI/SNF Mutations during Esophageal Squamous Cell Carcinogenesis.
Nakazato H et al.
Plos One, 2016
[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].
Wang W et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
A structure-specific nucleic acid-binding domain conserved among DNA repair proteins.
Mason AC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
Bone marrow transplantation in Schimke immuno-osseous dysplasia.
Baradaran-Heravi A et al.
American Journal of Medical Genetics. Part A, 2013
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
McCarthy HJ et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Morimoto M et al.
Orphanet Journal of Rare Diseases, 2012
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
Zieg J et al.
Pediatric Rheumatology Online Journal, 2011
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Clewing JM et al.
Human Mutation, 2007