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Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L, Huetzen MA, Moreno-Andrés D, Kalb R, McKee S, Hsieh TC, Seibt A, Schouwink M, Lalani S, Faqeih EA, Brunet T, Boor P, Neveling K, Hoischen A, Hildebrandt B, Graf E, Lu L, Jin W, Schaper J, Omer JA, Demaret T, Fleischer N, Schindler D, Krawitz P, Mayatepek E, Wieczorek D, Wang LL, Antonin W, Jachimowicz RD, von Felbert V, Distelmaier F. Averdunk L, et al. 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 …