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  • Search Condition : Filter (MeSH = Syndrome)
Species Resource
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.
Zebrafish T2KSAG? Expression of H-RASV12 in a zebrafish model of Costello syndrome causes cellular senescence in adult proliferating cells.
Zebrafish isl1:GFP/rw0 EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
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.
Pathogenic microorganisms JCM 3718 , JCM 3724 Fusobacterium necrophorum as the cause of recurrent sore throat: comparison of isolates from persistent sore throat syndrome and Lemierre's disease.
Pathogenic microorganisms ? Lung cysts in Birt-Hogg-Dubé syndrome: histopathological characteristics and aberrant sequence repeats.
C.elegans tm3004 , tm3045 Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism.
Drosophila NP lines The EIF4EBP3 translational repressor is a marker of CDC73 tumor suppressor haploinsufficiency in a parathyroid cancer syndrome.
Human and Animal Cells New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
Human and Animal Cells Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors.
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 Insulin-like growth factor I receptor is expressed at normal levels in Nijmegen breakage syndrome cells.
Human and Animal Cells Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.