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Page 1
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH. Ballew BJ, et al. PLoS Genet. 2013 Aug;9(8):e1003695. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29. PLoS Genet. 2013. PMID: 24009516 Free PMC article.
GEMC1 is a critical regulator of multiciliated cell differentiation.
Terré B, Piergiovanni G, Segura-Bayona S, Gil-Gómez G, Youssef SA, Attolini CS, Wilsch-Bräuninger M, Jung C, Rojas AM, Marjanović M, Knobel PA, Palenzuela L, López-Rovira T, Forrow S, Huttner WB, Valverde MA, de Bruin A, Costanzo V, Stracker TH. Terré B, et al. Among authors: stracker th. EMBO J. 2016 May 2;35(9):942-60. doi: 10.15252/embj.201592821. Epub 2016 Mar 1. EMBO J. 2016. PMID: 26933123 Free PMC article.
PARP-1/PARP-2 double deficiency in mouse T cells results in faulty immune responses and T lymphomas.
Navarro J, Gozalbo-López B, Méndez AC, Dantzer F, Schreiber V, Martínez C, Arana DM, Farrés J, Revilla-Nuin B, Bueno MF, Ampurdanés C, Galindo-Campos MA, Knobel PA, Segura-Bayona S, Martin-Caballero J, Stracker TH, Aparicio P, Del Val M, Yélamos J. Navarro J, et al. Among authors: stracker th. Sci Rep. 2017 Feb 9;7:41962. doi: 10.1038/srep41962. Sci Rep. 2017. PMID: 28181505 Free PMC article.
Differential requirements for Tousled-like kinases 1 and 2 in mammalian development.
Segura-Bayona S, Knobel PA, González-Burón H, Youssef SA, Peña-Blanco A, Coyaud É, López-Rovira T, Rein K, Palenzuela L, Colombelli J, Forrow S, Raught B, Groth A, de Bruin A, Stracker TH. Segura-Bayona S, et al. Among authors: stracker th. Cell Death Differ. 2017 Nov;24(11):1872-1885. doi: 10.1038/cdd.2017.108. Epub 2017 Jul 14. Cell Death Differ. 2017. PMID: 28708136 Free PMC article.
Molecular basis of Tousled-Like Kinase 2 activation.
Mortuza GB, Hermida D, Pedersen AK, Segura-Bayona S, López-Méndez B, Redondo P, Rüther P, Pozdnyakova I, Garrote AM, Muñoz IG, Villamor-Payà M, Jauset C, Olsen JV, Stracker TH, Montoya G. Mortuza GB, et al. Among authors: stracker th. Nat Commun. 2018 Jun 28;9(1):2535. doi: 10.1038/s41467-018-04941-y. Nat Commun. 2018. PMID: 29955062 Free PMC article.
LOXL2-mediated H3K4 oxidation reduces chromatin accessibility in triple-negative breast cancer cells.
Cebrià-Costa JP, Pascual-Reguant L, Gonzalez-Perez A, Serra-Bardenys G, Querol J, Cosín M, Verde G, Cigliano RA, Sanseverino W, Segura-Bayona S, Iturbide A, Andreu D, Nuciforo P, Bernado-Morales C, Rodilla V, Arribas J, Yelamos J, de Herreros AG, Stracker TH, Peiró S. Cebrià-Costa JP, et al. Among authors: stracker th. Oncogene. 2020 Jan;39(1):79-121. doi: 10.1038/s41388-019-0969-1. Epub 2019 Aug 28. Oncogene. 2020. PMID: 31462706 Free PMC article.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A. Pavinato L, et al. Among authors: stracker th. J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323470 Free PMC article.
71 results