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Two novel mutations in XYLT2 cause spondyloocular syndrome.
Taylan F, Yavaş Abalı Z, Jäntti N, Güneş N, Darendeliler F, Baş F, Poyrazoğlu Ş, Tamçelik N, Tüysüz B, Mäkitie O. Taylan F, et al. Among authors: jantti n. Am J Med Genet A. 2017 Dec;173(12):3195-3200. doi: 10.1002/ajmg.a.38470. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884924
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A. Laurell T, et al. Among authors: jantti n. Mol Genet Genomic Med. 2014 Sep;2(5):402-11. doi: 10.1002/mgg3.81. Epub 2014 May 14. Mol Genet Genomic Med. 2014. PMID: 25333065 Free PMC article.
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.
Salehi Karlslätt K, Pettersson M, Jäntti N, Szafranski P, Wester T, Husberg B, Ullberg U, Stankiewicz P, Nordgren A, Lundin J, Lindstrand A, Nordenskjöld A. Salehi Karlslätt K, et al. Among authors: jantti n. Mol Genet Genomic Med. 2019 Mar;7(3):e549. doi: 10.1002/mgg3.549. Epub 2019 Jan 10. Mol Genet Genomic Med. 2019. PMID: 30632303 Free PMC article.
Publisher Correction: Cargo-specific recruitment in clathrin- and dynamin-independent endocytosis.
Moreno-Layseca P, Jäntti NZ, Godbole R, Sommer C, Jacquemet G, Al-Akhrass H, Conway JRW, Kronqvist P, Kallionpää RE, Oliveira-Ferrer L, Cervero P, Linder S, Aepfelbacher M, Zauber H, Rae J, Parton RG, Disanza A, Scita G, Mayor S, Selbach M, Veltel S, Ivaska J. Moreno-Layseca P, et al. Among authors: jantti nz. Nat Cell Biol. 2022 Sep;24(9):1445. doi: 10.1038/s41556-022-00952-6. Nat Cell Biol. 2022. PMID: 36038735 No abstract available.
Cargo-specific recruitment in clathrin- and dynamin-independent endocytosis.
Moreno-Layseca P, Jäntti NZ, Godbole R, Sommer C, Jacquemet G, Al-Akhrass H, Conway JRW, Kronqvist P, Kallionpää RE, Oliveira-Ferrer L, Cervero P, Linder S, Aepfelbacher M, Zauber H, Rae J, Parton RG, Disanza A, Scita G, Mayor S, Selbach M, Veltel S, Ivaska J. Moreno-Layseca P, et al. Among authors: jantti nz. Nat Cell Biol. 2021 Oct;23(10):1073-1084. doi: 10.1038/s41556-021-00767-x. Epub 2021 Oct 6. Nat Cell Biol. 2021. PMID: 34616024 Free article.
SORLA regulates endosomal trafficking and oncogenic fitness of HER2.
Pietilä M, Sahgal P, Peuhu E, Jäntti NZ, Paatero I, Närvä E, Al-Akhrass H, Lilja J, Georgiadou M, Andersen OM, Padzik A, Sihto H, Joensuu H, Blomqvist M, Saarinen I, Boström PJ, Taimen P, Ivaska J. Pietilä M, et al. Among authors: jantti nz. Nat Commun. 2019 May 28;10(1):2340. doi: 10.1038/s41467-019-10275-0. Nat Commun. 2019. PMID: 31138794 Free PMC article.