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43 results

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Page 1
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Cossée M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW; Genomic England Research Consortium; Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Among authors: safgren sl. Brain. 2024 Jun 17:awae193. doi: 10.1093/brain/awae193. Online ahead of print. Brain. 2024. PMID: 38884572
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Ferrer A, et al. Hum Genet. 2024 May;143(5):649-666. doi: 10.1007/s00439-024-02664-3. Epub 2024 Mar 27. Hum Genet. 2024. PMID: 38538918
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
Oftedal BE, Assing K, Baris S, Safgren SL, Johansen IS, Jakobsen MA, Babovic-Vuksanovic D, Agre K, Klee EW, Majcic E, Ferré EMN, Schmitt MM, DiMaggio T, Rosen LB, Rahman MO, Chrysis D, Giannakopoulos A, Garcia MT, González-Granado LI, Stanley K, Galant-Swafford J, Suwannarat P, Meyts I, Lionakis MS, Husebye ES. Oftedal BE, et al. Among authors: safgren sl. iScience. 2023 May 5;26(6):106818. doi: 10.1016/j.isci.2023.106818. eCollection 2023 Jun 16. iScience. 2023. PMID: 37235056 Free PMC article.
MacroH2A histone variants modulate enhancer activity to repress oncogenic programs and cellular reprogramming.
Mohammed Ismail W, Mazzone A, Ghiraldini FG, Kaur J, Bains M, Munankarmy A, Bagwell MS, Safgren SL, Moore-Weiss J, Buciuc M, Shimp L, Leach KA, Duarte LF, Nagi CS, Carcamo S, Chung CY, Hasson D, Dadgar N, Zhong J, Lee JH, Couch FJ, Revzin A, Ordog T, Bernstein E, Gaspar-Maia A. Mohammed Ismail W, et al. Among authors: safgren sl. Commun Biol. 2023 Feb 23;6(1):215. doi: 10.1038/s42003-023-04571-1. Commun Biol. 2023. PMID: 36823213 Free PMC article.
Oncogenic deubiquitination controls tyrosine kinase signaling and therapy response in acute lymphoblastic leukemia.
Jin Q, Gutierrez Diaz B, Pieters T, Zhou Y, Narang S, Fijalkwoski I, Borin C, Van Laere J, Payton M, Cho BK, Han C, Sun L, Serafin V, Yacu G, Von Loocke W, Basso G, Veltri G, Dreveny I, Ben-Sahra I, Goo YA, Safgren SL, Tsai YC, Bornhauser B, Suraneni PK, Gaspar-Maia A, Kandela I, Van Vlierberghe P, Crispino JD, Tsirigos A, Ntziachristos P. Jin Q, et al. Among authors: safgren sl. Sci Adv. 2022 Dec 9;8(49):eabq8437. doi: 10.1126/sciadv.abq8437. Epub 2022 Dec 9. Sci Adv. 2022. PMID: 36490346 Free PMC article.
RAS mutations drive proliferative chronic myelomonocytic leukemia via a KMT2A-PLK1 axis.
Carr RM, Vorobyev D, Lasho T, Marks DL, Tolosa EJ, Vedder A, Almada LL, Yurcheko A, Padioleau I, Alver B, Coltro G, Binder M, Safgren SL, Horn I, You X, Solary E, Balasis ME, Berger K, Hiebert J, Witzig T, Buradkar A, Graf T, Valent P, Mangaonkar AA, Robertson KD, Howard MT, Kaufmann SH, Pin C, Fernandez-Zapico ME, Geissler K, Droin N, Padron E, Zhang J, Nikolaev S, Patnaik MM. Carr RM, et al. Among authors: safgren sl. Nat Commun. 2021 May 18;12(1):2901. doi: 10.1038/s41467-021-23186-w. Nat Commun. 2021. PMID: 34006870 Free PMC article.
Cancer-specific CTCF binding facilitates oncogenic transcriptional dysregulation.
Fang C, Wang Z, Han C, Safgren SL, Helmin KA, Adelman ER, Serafin V, Basso G, Eagen KP, Gaspar-Maia A, Figueroa ME, Singer BD, Ratan A, Ntziachristos P, Zang C. Fang C, et al. Among authors: safgren sl. Genome Biol. 2020 Sep 15;21(1):247. doi: 10.1186/s13059-020-02152-7. Genome Biol. 2020. PMID: 32933554 Free PMC article.
GLI1/GLI2 functional interplay is required to control Hedgehog/GLI targets gene expression.
Tolosa EJ, Fernandez-Barrena MG, Iguchi E, McCleary-Wheeler AL, Carr RM, Almada LL, Flores LF, Vera RE, Alfonse GW, Marks DL, Hogenson TL, Vrabel AM, Horn IP, Koenig AN, Safgren SL, Sigafoos AN, Erkan M, Romecin-Duran PA, Sarabia Gonzalez A, Zhou B, Javelaud D, Marsaud V, Graham RP, Mauviel A, Elsawa SF, Fernandez-Zapico ME. Tolosa EJ, et al. Among authors: safgren sl. Biochem J. 2020 Sep 18;477(17):3131-3145. doi: 10.1042/BCJ20200335. Biochem J. 2020. PMID: 32766732
43 results