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12 Hits
検索条件 : 絞込み (MeSH = Mitochondrial Diseases / genetics*)
生物種
リソース名
RRC ID
タイトル
ジャーナル
公開日
外部リンク
線虫
tmC5
75991
Allele-specific mitochondrial stress induced by Multiple Mitochondrial Dysfunctions Syndrome 1 pathogenic mutations modeled in Caenorhabditis elegans.
PLoS Genet
2021-8-1
Pubmed
Full text
ヒト・動物細胞
NB1RGB(RCB0222)
63100
The use of a MITO-Porter to deliver exogenous therapeutic RNA to a mitochondrial disease's cell with a A1555G mutation in the mitochondrial 12S rRNA gene results in an increase in mitochondrial respiratory activity.
Mitochondrion
2020-11-1
Pubmed
Full text
線虫
tm3160
,
tm5041
51445
Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses.
PLoS Genet
2017-7-1
Pubmed
Full text
遺伝子材料
pCAGGS (RDB08938)
50015
TALEN-mediated shift of mitochondrial DNA heteroplasmy in MELAS-iPSCs with m.13513G>A mutation.
Sci Rep
2017-11-14
Pubmed
Full text
遺伝子材料
Genome Network Project Human cDNA IRAK115J05 (HGX046221)
49236
Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.
Clin Genet
2018-2-1
Pubmed
Full text
ヒト・動物細胞
43900
Specific mitochondrial DNA mutation in mice regulates diabetes and lymphoma development.
Proc Natl Acad Sci U S A
2012-6-26
Pubmed
Full text
ゼブラフィッシュ
Tg(brn3a-hsp70:GFP)/rw0110b
39997
The cellular and molecular progression of mitochondrial dysfunction induced by 2,4-dinitrophenol in developing zebrafish embryos.
Differentiation
2015-1-1
Pubmed
Full text
ショウジョウバエ
GFP-IR-2
36260
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PLoS Genet
2016-1-1
Pubmed
Full text
遺伝子材料
CS-CA-MCS (RDB05963)
35951
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PLoS Genet
2016-1-1
Pubmed
Full text
遺伝子材料
CS-CA-MCS (RDB05963)
35107
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet
2015-11-5
Pubmed
Full text
実験動物マウス
RBRC00823
30211
Selection of rodent species appropriate for mtDNA transfer to generate transmitochondrial mito-mice expressing mitochondrial respiration defects.
Exp Anim
2014-1-1
Pubmed
Full text
ラット
WTC.DMY-Mrs2dmy/Kyo(strainID=19)
,
WTC/Kyo(strainID=18)
12659
A mutation in the gene encoding mitochondrial Mg²+ channel MRS2 results in demyelination in the rat.
PLoS Genet
2011-1-6
Pubmed
Full text