• 39 Hits
  • 検索条件 : 絞込み (MeSH = Genetic Predisposition to Disease*)
生物種 リソース名 タイトル
ヒト・動物細胞 TGBC1TKB(RCB1148) Genetic association of MMP14 promoter variants and their functional significance in gallbladder cancer pathogenesis.
ショウジョウバエ Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
ヒト・動物細胞 293(RCB1637) Identification of a splicing variant that regulates type 2 diabetes risk factor CDKAL1 level by a coding-independent mechanism in human.
ヒト・動物細胞 BALL-1(RCB0256) , Jurkat(RCB0806) , K562(RCB0027) Regulation of the expression of MHC class I-related chain A, B (MICA, MICB) via chromatin remodeling and its impact on the susceptibility of leukemic cells to the cytotoxicity of NKG2D-expressing cells.
ヒト・動物細胞 OP9(RCB1124) Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
ゼブラフィッシュ RIKEN WT A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.
遺伝子材料 pGL4-phGLI1 (RDB07902) , pcDNA3.1-His-hGLI3 (RDB08066) Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.
ショウジョウバエ 6756R-1 De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
ヒト・動物細胞 Jurkat Molecular heterogeneity in peripheral T-cell lymphoma, not otherwise specified revealed by comprehensive genetic profiling.
研究用ヒト臍帯血幹細胞 Biological implications of somatic DDX41 p.R525H mutation in acute myeloid leukemia.
ヒト・動物細胞 ATDC5(RCB0565) Functional polymorphisms in asporin and CILP together with joint loading predispose to hand osteoarthritis.
遺伝子材料 MSM/Ms Mouse BAC clone (RDB04214) MSMg01-466J23 , MSMg01-047A16. The parathyroid hormone regulates skin tumour susceptibility in mice.
ヒト・動物細胞 HeLa(RCB0007) NLRP1 gene polymorphism influences gene transcription and is a risk factor for rheumatoid arthritis in han chinese.
ヒト・動物細胞 293T(RCB2202) A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population.
ヒト・動物細胞 293(RCB1637) Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction.
ヒト・動物細胞 Jurkat(RCB0806) Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction.
ヒト・動物細胞 Association of eNOS Glu298Asp polymorphism with end-stage renal disease.
ヒト・動物細胞 MKN45(RCB1001) , MKN28(RCB1000) Increased expression of survivin in gastric cancer patients and in first degree relatives.
ヒト・動物細胞 HeLa(RCB0007) Common variants in CASP3 confer susceptibility to Kawasaki disease.
ヒト・動物細胞 ΔRad51B-DT40(RCB1622) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.