生物種
|
リソース名
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RRC ID
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タイトル
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ジャーナル
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公開日
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外部リンク
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ヒト・動物細胞
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TGBC1TKB(RCB1148)
|
72000
|
Genetic association of MMP14 promoter variants and their functional significance in gallbladder cancer pathogenesis.
|
J Hum Genet |
2021-10-1 |
Pubmed
Full text
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ショウジョウバエ
|
|
70108
|
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
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Am J Med Genet A |
2021-7-1 |
Pubmed
Full text
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ヒト・動物細胞
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293(RCB1637)
|
69290
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Identification of a splicing variant that regulates type 2 diabetes risk factor CDKAL1 level by a coding-independent mechanism in human.
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Hum Mol Genet |
2014-9-1 |
Pubmed
Full text
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ヒト・動物細胞
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BALL-1(RCB0256)
,
Jurkat(RCB0806)
,
K562(RCB0027)
|
68533
|
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.
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Leukemia |
2007-10-1 |
Pubmed
Full text
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ヒト・動物細胞
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OP9(RCB1124)
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67526
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Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
|
Nat Genet |
2015-10-1 |
Pubmed
Full text
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ゼブラフィッシュ
|
RIKEN WT
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65568
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A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.
|
Am J Hum Genet |
2015-8-6 |
Pubmed
Full text
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遺伝子材料
|
pGL4-phGLI1 (RDB07902)
,
pcDNA3.1-His-hGLI3 (RDB08066)
|
62620
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Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.
|
Am J Med Genet A |
2021-1-1 |
Pubmed
Full text
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ショウジョウバエ
|
6756R-1
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59043
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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
|
Hum Mol Genet |
2020-6-3 |
Pubmed
Full text
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ヒト・動物細胞
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Jurkat
|
57793
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Molecular heterogeneity in peripheral T-cell lymphoma, not otherwise specified revealed by comprehensive genetic profiling.
|
Leukemia |
2019-12-1 |
Pubmed
Full text
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研究用ヒト臍帯血幹細胞
|
|
53212
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Biological implications of somatic DDX41 p.R525H mutation in acute myeloid leukemia.
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Exp Hematol |
2016-8-1 |
Pubmed
Full text
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ヒト・動物細胞
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ATDC5(RCB0565)
|
52508
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Functional polymorphisms in asporin and CILP together with joint loading predispose to hand osteoarthritis.
|
BMC Genet |
2017-12-12 |
Pubmed
Full text
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遺伝子材料
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MSM/Ms Mouse BAC clone (RDB04214) MSMg01-466J23
,
MSMg01-047A16.
|
49316
|
The parathyroid hormone regulates skin tumour susceptibility in mice.
|
Sci Rep |
2017-9-11 |
Pubmed
Full text
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ヒト・動物細胞
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HeLa(RCB0007)
|
43582
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NLRP1 gene polymorphism influences gene transcription and is a risk factor for rheumatoid arthritis in han chinese.
|
Arthritis Rheum |
2012-3-1 |
Pubmed
Full text
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ヒト・動物細胞
|
293T(RCB2202)
|
43246
|
A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population.
|
J Hum Genet |
2008-1-1 |
Pubmed
Full text
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ヒト・動物細胞
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293(RCB1637)
|
42796
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Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction.
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J Hum Genet |
2006-1-1 |
Pubmed
Full text
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ヒト・動物細胞
|
Jurkat(RCB0806)
|
41722
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Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction.
|
Nat Genet |
2002-12-1 |
Pubmed
Full text
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ヒト・動物細胞
|
|
41687
|
Association of eNOS Glu298Asp polymorphism with end-stage renal disease.
|
Hypertension |
2002-10-1 |
Pubmed
Full text
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ヒト・動物細胞
|
MKN45(RCB1001)
,
MKN28(RCB1000)
|
41601
|
Increased expression of survivin in gastric cancer patients and in first degree relatives.
|
Br J Cancer |
2002-7-1 |
Pubmed
Full text
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ヒト・動物細胞
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HeLa(RCB0007)
|
38165
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Common variants in CASP3 confer susceptibility to Kawasaki disease.
|
Hum Mol Genet |
2010-7-15 |
Pubmed
Full text
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ヒト・動物細胞
|
ΔRad51B-DT40(RCB1622)
|
38141
|
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
|
Nat Genet |
2010-5-1 |
Pubmed
Full text
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