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
|
ゼブラフィッシュ
|
gSAIzGFFM593A
|
76494
|
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
|
EMBO Mol Med |
2020-7-7 |
Pubmed
Full text
|
遺伝子材料
|
pCMV-VSV-G-RSV-Rev (RDB04393)
,
pCAG-HIVgp (RDB04394)
|
68385
|
Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells.
|
Sci Rep |
2021-9-9 |
Pubmed
Full text
|
遺伝子材料
|
pMXs-puro-mTMEM16A (RDB18742)
,
pMXs-puro-mTMEM16B (RDB18743)
,
pMXs-puro-mTMEM16C (RDB18744)
,
pMXs-puro-mTMEM16D (RDB18745)
,
pMXs-puro-mTMEM16E (RDB18746)
,
pMXs-puro-mTMEM16F (RDB18747)
,
pMXs-puro-mTMEM16G (RDB18748)
,
pMXs-puro-mTMEM16H (RDB18749)
,
pMXs-puro-mTMEM16J (RDB18750)
,
pMXs-puro-mTMEM16F-long (RDB18751)
,
...
|
67361
|
Calcium-dependent phospholipid scrambling by TMEM16F.
|
Nature |
2010-12-9 |
Pubmed
Full text
|
ヒト・動物細胞
|
293(RCB1637)
,
293T(RCB2202)
|
66849
|
Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.
|
J Clin Invest |
2021-2-15 |
Pubmed
Full text
|
GBIF
|
Plant specimens of Ishikawa Museum of Natural History
,
Mollusca collection of National Museum of Nature and Science
,
Plant Specimens of The Cattle Museum
,
Long-term fauna and flora records of the experimental forests of the Forest Research Station of Hokkaido University, Japan
,
Spermatophyte collection of Himeji City Science Museum
,
Plant specimens of Toyota City Nature Sanctuary
,
Plant specimens of Tochigi Prefectural Museum
,
Plant specimens of Nasunogahara Museum
,
Asia-Pacific Dataset
,
Plant Specimen Database of Tama Forest Science Garden, Forestry and Forest Products Research Institute, Japan
,
...
|
65790
|
Dispersers and environment drive global variation in fruit colour syndromes.
|
Ecol Lett |
2021-7-1 |
Pubmed
Full text
|
ヒト・動物細胞
|
293(RCB1637)
|
62857
|
Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
|
Mol Brain |
2020-5-24 |
Pubmed
Full text
|
研究用ヒト臍帯血幹細胞
|
|
61090
|
An Animal Model That Mimics Human Herpesvirus 6B Pathogenesis.
|
J Virol |
2020-2-28 |
Pubmed
Full text
|
ゼブラフィッシュ
|
Tol-056
|
55007
|
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
|
Am J Hum Genet |
2018-9-6 |
Pubmed
Full text
|
ゼブラフィッシュ
|
Tg(EF1α:mKO2-zCdt1(1/190))
,
Tg(EF1α:mAG-hGem(1/60))
|
51252
|
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
|
Nat Genet |
2017-11-1 |
Pubmed
Full text
|
ショウジョウバエ
|
|
50631
|
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
|
Nat Genet |
2012-4-29 |
Pubmed
Full text
|
ヒト・動物細胞
|
ATDC5(RCB0565)
|
43583
|
New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
|
J Bone Miner Res |
2012-2-1 |
Pubmed
Full text
|
ヒト・動物細胞
|
HMV-II(RCB0777)
|
42737
|
Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.
|
J Biochem |
2006-10-1 |
Pubmed
Full text
|
ヒト・動物細胞
|
|
41638
|
Insulin-like growth factor I receptor is expressed at normal levels in Nijmegen breakage syndrome cells.
|
Biochem Biophys Res Commun |
2002-8-9 |
Pubmed
Full text
|
ゼブラフィッシュ
|
isl1:GFP/rw0
|
33637
|
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
|
Nat Commun |
2014-7-3 |
Pubmed
Full text
|
ショウジョウバエ
|
NP lines
|
22027
|
The EIF4EBP3 translational repressor is a marker of CDC73 tumor suppressor haploinsufficiency in a parathyroid cancer syndrome.
|
Cell Death Dis |
2012-2-2 |
Pubmed
Full text
|
ゼブラフィッシュ
|
rw0130a (Tg (Huc:Kaede))
|
12095
|
KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome.
|
Development |
2008-2-1 |
Pubmed
Full text
|
ヒト・動物細胞
|
Jyg-MC(B)(RCB0527)
|
10814
|
Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome.
|
Genomics |
2005-4-1 |
Pubmed
Full text
|
ヒト・動物細胞
|
WEHI-3(RCB0035)
,
32Dcl3(RCB1538)
|
6535
|
Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors.
|
Exp Hematol |
2007-4-1 |
Pubmed
Full text
|
線虫
|
tm3004
,
tm3045
|
6456
|
Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism.
|
PLoS One |
2009-1-1 |
Pubmed
Full text
|
病原微生物
|
|
5976
|
Lung cysts in Birt-Hogg-Dubé syndrome: histopathological characteristics and aberrant sequence repeats.
|
Pathol Int |
2009-10-1 |
Pubmed
Full text
|