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Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med. 2023 Jul;25(7):100836. doi: 10.1016/j.gim.2023.100836. Epub 2023 Mar 31.
Genet Med. 2023.
PMID: 37013901
Free article.
RESULTS: All CRIPT individuals fulfilled the diagnostic criteria for RTS and additionally had neurodevelopmental delay and seizures. ...CONCLUSION: CRIPT causes an RTS-like syndrome associated with neurodevelopmental delay and epilepsy. ...
RESULTS: All CRIPT individuals fulfilled the diagnostic criteria for RTS and additionally had neurodevelopmental delay and seizures. …
SAP97 Binding Partner CRIPT Promotes Dendrite Growth In Vitro and In Vivo.
Zhang L, Jablonski AM, Mojsilovic-Petrovic J, Ding H, Seeholzer S, Newton IP, Nathke I, Neve R, Zhai J, Shang Y, Zhang M, Kalb RG.
Zhang L, et al.
eNeuro. 2017 Dec 6;4(6):ENEURO.0175-17.2017. doi: 10.1523/ENEURO.0175-17.2017. eCollection 2017 Nov-Dec.
eNeuro. 2017.
PMID: 29218323
Free PMC article.
We further show that CRIPT has a well-conserved ortholog in the nematode, Caenorhabditis elegans, and animals lacking CRIPT display decreased dendrite branching of the well-studied PVD neuron in vivo. The lack of CRIPT leads to a selective defect in touch per …
We further show that CRIPT has a well-conserved ortholog in the nematode, Caenorhabditis elegans, and animals lacking CRIPT di …
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