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Did you mean kaptein (1,212 results)?
2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4.
Bearer EL, Chen AF, Chen AH, Li Z, Mark HF, Smith RJ, Jackson CL. Bearer EL, et al. Ann Hum Genet. 2000 May;64(Pt 3):189-96. doi: 10.1046/j.1469-1809.2000.6430189.x. Ann Hum Genet. 2000. PMID: 11409409 Free PMC article.
Their structural support is derived from actin filaments and actin-binding proteins. We have identified a novel actin-binding protein, 2E4-kaptin (KPTN), which appears to be involved in this structural network. ...
Their structural support is derived from actin filaments and actin-binding proteins. We have identified a novel actin-binding protein, 2E4- …
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. Levitin MO, et al. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN-related disorder, we analysed mouse k …
KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a co …
Actin dynamics in platelets.
Bearer EL, Prakash JM, Li Z. Bearer EL, et al. Int Rev Cytol. 2002;217:137-82. doi: 10.1016/s0074-7696(02)17014-8. Int Rev Cytol. 2002. PMID: 12019562 Free PMC article. Review.
F-Actin-affinity chromatography identified a large set of actin-binding proteins including VASP, Arp2 and 2E4/kaptin. Recent discoveries show that VASP inhibits filament disassembly and Arp2/3 is required to polymerize new filaments. ...
F-Actin-affinity chromatography identified a large set of actin-binding proteins including VASP, Arp2 and 2E4/kaptin. Recent discover …
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH. Baple EL, et al. Am J Hum Genet. 2014 Jan 2;94(1):87-94. doi: 10.1016/j.ajhg.2013.10.001. Epub 2013 Nov 14. Am J Hum Genet. 2014. PMID: 24239382 Free PMC article.
Our immunofluorescence analyses in primary neuronal cell cultures showed that endogenous and GFP-tagged kaptin associates with dynamic actin cytoskeletal structures and that this association is lost upon introduction of the identified mutations. Taken together, our studies …
Our immunofluorescence analyses in primary neuronal cell cultures showed that endogenous and GFP-tagged kaptin associates with dynami …
Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.
Horn S, Danyel M, Erdmann N, Boschann F, Gunnarsson C, Biskup S, Juengling J, Potratz C, Prager C, Kaindl AM. Horn S, et al. Front Neurol. 2023 Jan 10;13:1113811. doi: 10.3389/fneur.2022.1113811. eCollection 2022. Front Neurol. 2023. PMID: 36703628 Free PMC article.
Biallelic variants in the kaptin gene KPTN were identified recently in individuals with a novel syndrome referred to as autosomal recessive intellectual developmental disorder 41 (MRT41). ...
Biallelic variants in the kaptin gene KPTN were identified recently in individuals with a novel syndrome referred to as autosomal rec …
KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report.
Lucena PH, Armani-Franceschi G, Bispo-Torres AC, Bandeira ID, Lucena MFG, Maldonado I, Veiga MF, Miguel D, Lucena R. Lucena PH, et al. Am J Med Genet A. 2020 Apr;182(4):762-767. doi: 10.1002/ajmg.a.61492. Epub 2020 Jan 30. Am J Med Genet A. 2020. PMID: 31999056
Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. ...
Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndr …