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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.
To gain further insights into the pathogenesis of KPTN-related disorder, we analysed mouse knockout and human stem cell KPTN loss-of-function models. Kptn -/- mice display many of the key KPTN-related disorder phenotypes, including brain overgrowth, be …
To gain further insights into the pathogenesis of KPTN-related disorder, we analysed mouse knockout and human stem cell KPTN l …
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
We report a case of KPTN-related syndrome in a 5-year-old child which presented macrocephaly, muscular hypotonia, and global development delay. ...Presence of macrocephaly and delayed development indicate the possibility of KPTN gene variation. Genetic testing shoul …
We report a case of KPTN-related syndrome in a 5-year-old child which presented macrocephaly, muscular hypotonia, and global developm …
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.
Using exome sequencing, we identified three different biallelic variants in KPTN in five affected individuals from three unrelated families. In total, two KPTN variants were already reported as a loss of function variants. ...
Using exome sequencing, we identified three different biallelic variants in KPTN in five affected individuals from three unrelated fa …
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders C. Thiffault I, et al. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a003970. doi: 10.1101/mcs.a003970. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32358097 Free PMC article.
Clinical whole-genome sequencing revealed compound heterozygous variants in the KPTN gene. The first variant is a previously characterized 18-bp in-frame duplication (c.714_731dup) in exon 8, resulting in the protein change p.Met241_Gln246dup. ...These results are consiste …
Clinical whole-genome sequencing revealed compound heterozygous variants in the KPTN gene. The first variant is a previously characte …
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.
Pacio Miguez M, Santos-Simarro F, García-Miñaúr S, Velázquez Fragua R, Del Pozo Á, Solís M, Jiménez Rodríguez C, Rufo-Rabadán V, Fernandez VE, Rueda I, Gomez Del Pozo MV, Gallego N, Lapunzina P, Palomares-Bralo M. Pacio Miguez M, et al. Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18. Am J Med Genet A. 2020. PMID: 32808430 No abstract available.
OTUD3 suppresses the mTORC1 signaling by deubiquitinating KPTN.
Li J, Yang D, Lin Y, Xu W, Zhao SM, Wang C. Li J, et al. Front Pharmacol. 2024 Jan 15;14:1337732. doi: 10.3389/fphar.2023.1337732. eCollection 2023. Front Pharmacol. 2024. PMID: 38288086 Free PMC article.
Further investigations confirmed KPTN's ubiquitination modification, primarily at lysine residue 49. Ubiquitination experiments demonstrated OTUD3's ability to mediate KPTN's deubiquitination without affecting its protein levels. This suggests KPTN's ubiquiti …
Further investigations confirmed KPTN's ubiquitination modification, primarily at lysine residue 49. Ubiquitination experiments demon …
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.
Using linkage analysis and whole-exome sequencing on samples from families from the Amish community of Ohio, we have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. ...
Using linkage analysis and whole-exome sequencing on samples from families from the Amish community of Ohio, we have demonstrated that mutat …
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.
We have identified a novel actin-binding protein, 2E4-kaptin (KPTN), which appears to be involved in this structural network. Using double label immunofluorescence, we now show that KPTN extends beyond the barbed ends of actin filaments at the tips of stereocilia, a …
We have identified a novel actin-binding protein, 2E4-kaptin (KPTN), which appears to be involved in this structural network. Using d …
Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.
Pajusalu S, Reimand T, Õunap K. Pajusalu S, et al. Am J Med Genet A. 2015 Aug;167A(8):1913-5. doi: 10.1002/ajmg.a.37105. Epub 2015 Apr 5. Am J Med Genet A. 2015. PMID: 25847626
Thus, we confirm the pathogenicity of KPTN mutations and further delineate the novel developmental delay-macrocephaly syndrome. We also support the hypothesis that KPTN-related syndrome is not restricted to the Amish population....
Thus, we confirm the pathogenicity of KPTN mutations and further delineate the novel developmental delay-macrocephaly syndrome. We al …
Molecular mechanism of S-adenosylmethionine sensing by SAMTOR in mTORC1 signaling.
Tang X, Zhang Y, Wang G, Zhang C, Wang F, Shi J, Zhang T, Ding J. Tang X, et al. Sci Adv. 2022 Jul;8(26):eabn3868. doi: 10.1126/sciadv.abn3868. Epub 2022 Jul 1. Sci Adv. 2022. PMID: 35776786 Free PMC article.
SAMTOR is an S-adenosylmethionine (SAM) sensor, which regulates the mTORC1 activity through its interaction with the GTPase-activating protein activity toward Rags-1 (GATOR1)-KPTN, ITFG2, C12orf66 and SZT2-containing regulator (KICSTOR) complex. ...
SAMTOR is an S-adenosylmethionine (SAM) sensor, which regulates the mTORC1 activity through its interaction with the GTPase-activating prote …
18 results