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Reference Patent

Reference - List

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  • 7 Hits
  • Search Condition : Filter (MeSH = Abnormalities, Multiple / genetics)
Species Resource RRC ID Title Journal Published Link
Clawed frogs / Newts Xenopus genomic database , Technical assistance 81669 Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB. Hum Mol Genet 2024-11-8 Pubmed Full text
Zebrafish Tol-056 70875 Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis. Hum Genet 2021-5-1 Pubmed Full text
Human and Animal Cells EpiSC 129Ba1(AES0204) 58842 Recapitulating the human segmentation clock with pluripotent stem cells. Nature 2020-4-1 Pubmed Full text
Mice RBRC01828 56694 New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis. EBioMedicine 2019-4-1 Pubmed Full text
C.elegans tm1830 , tm324 , tm925 , tm2322 , tm3100 53444 KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol 2015-12-29 Pubmed Full text
C.elegans tm925 , tm3083 45588 TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat Cell Biol 2016-1-1 Pubmed Full text
Zebrafish T2KSAG? 5586 Expression of H-RASV12 in a zebrafish model of Costello syndrome causes cellular senescence in adult proliferating cells. Dis Model Mech 2009-1-1 Pubmed Full text
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