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  • Search Condition : Filter (MeSH = Syndrome)
Species Resource Title
Zebrafish gSAIzGFFM593A Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
DNA material pCMV-VSV-G-RSV-Rev (RDB04393) , pCAG-HIVgp (RDB04394) Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells.
DNA material 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) , ... Calcium-dependent phospholipid scrambling by TMEM16F.
Human and Animal Cells 293(RCB1637) , 293T(RCB2202) Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.
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 , ... Dispersers and environment drive global variation in fruit colour syndromes.
Human and Animal Cells 293(RCB1637) Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
Cord blood stem cells for research An Animal Model That Mimics Human Herpesvirus 6B Pathogenesis.
Zebrafish Tol-056 De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Zebrafish Tg(EF1α:mKO2-zCdt1(1/190)) , Tg(EF1α:mAG-hGem(1/60)) Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
Drosophila Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Human and Animal Cells ATDC5(RCB0565) New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
Human and Animal Cells HMV-II(RCB0777) Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.
Human and Animal Cells Insulin-like growth factor I receptor is expressed at normal levels in Nijmegen breakage syndrome cells.
Zebrafish isl1:GFP/rw0 EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Drosophila NP lines The EIF4EBP3 translational repressor is a marker of CDC73 tumor suppressor haploinsufficiency in a parathyroid cancer syndrome.
Zebrafish rw0130a (Tg (Huc:Kaede)) KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome.
Human and Animal Cells Jyg-MC(B)(RCB0527) Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome.
Human and Animal Cells WEHI-3(RCB0035) , 32Dcl3(RCB1538) Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors.
C.elegans tm3004 , tm3045 Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism.
Pathogenic microorganisms Lung cysts in Birt-Hogg-Dubé syndrome: histopathological characteristics and aberrant sequence repeats.