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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