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Page 1
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: dunford je. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Discovery of a Potent and Selective Naphthyridine-Based Chemical Probe for Casein Kinase 2.
Davis-Gilbert ZW, Krämer A, Dunford JE, Howell S, Senbabaoglu F, Wells CI, Bashore FM, Havener TM, Smith JL, Hossain MA, Oppermann U, Drewry DH, Axtman AD. Davis-Gilbert ZW, et al. Among authors: dunford je. ACS Med Chem Lett. 2023 Mar 14;14(4):432-441. doi: 10.1021/acsmedchemlett.2c00530. eCollection 2023 Apr 13. ACS Med Chem Lett. 2023. PMID: 37077385 Free PMC article.
BRD9-containing non-canonical BAF complex maintains somatic cell transcriptome and acts as a barrier to human reprogramming.
Sevinç K, Sevinç GG, Cavga AD, Philpott M, Kelekçi S, Can H, Cribbs AP, Yıldız AB, Yılmaz A, Ayar ES, Arabacı DH, Dunford JE, Ata D, Sigua LH, Qi J, Oppermann U, Onder TT. Sevinç K, et al. Among authors: dunford je. Stem Cell Reports. 2022 Dec 13;17(12):2629-2642. doi: 10.1016/j.stemcr.2022.10.005. Epub 2022 Nov 3. Stem Cell Reports. 2022. PMID: 36332631 Free PMC article.
Bisphosphonates: The role of chemistry in understanding their biological actions and structure-activity relationships, and new directions for their therapeutic use.
Ebetino FH, Sun S, Cherian P, Roshandel S, Neighbors JD, Hu E, Dunford JE, Sedghizadeh PP, McKenna CE, Srinivasan V, Boeckman RK, Russell RGG. Ebetino FH, et al. Among authors: dunford je. Bone. 2022 Mar;156:116289. doi: 10.1016/j.bone.2021.116289. Epub 2021 Dec 8. Bone. 2022. PMID: 34896359 Free PMC article.
The Prolyl-tRNA Synthetase Inhibitor Halofuginone Inhibits SARS-CoV-2 Infection.
Sandoval DR, Clausen TM, Nora C, Cribbs AP, Denardo A, Clark AE, Garretson AF, Coker JKC, Narayanan A, Majowicz SA, Philpott M, Johansson C, Dunford JE, Spliid CB, Golden GJ, Payne NC, Tye MA, Nowell CJ, Griffis ER, Piermatteo A, Grunddal KV, Alle T, Magida JA, Hauser BM, Feldman J, Caradonna TM, Pu Y, Yin X, McVicar RN, Kwong EM, Weiss RJ, Downes M, Tsimikas S, Smidt AG, Ballatore C, Zengler K, Evans RM, Chanda SK, Croker BA, Leibel SL, Jose J, Mazitschek R, Oppermann U, Esko JD, Carlin AF, Gordts PLSM. Sandoval DR, et al. Among authors: dunford je. bioRxiv [Preprint]. 2021 Mar 26:2021.03.22.436522. doi: 10.1101/2021.03.22.436522. bioRxiv. 2021. PMID: 33791697 Free PMC article. Preprint.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, Meilleur KG, Finkel RS, Fan Y, Mamchaoui K, Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Böhm J, Jaiswal JK, Stojkovic T, Bönnemann CG. Foley AR, et al. Among authors: dunford je. Ann Neurol. 2020 Aug;88(2):332-347. doi: 10.1002/ana.25772. Epub 2020 Jun 18. Ann Neurol. 2020. PMID: 32403198 Free PMC article.
A Chemical Probe for Tudor Domain Protein Spindlin1 to Investigate Chromatin Function.
Fagan V, Johansson C, Gileadi C, Monteiro O, Dunford JE, Nibhani R, Philpott M, Malzahn J, Wells G, Faram R, Cribbs AP, Halidi N, Li F, Chau I, Greschik H, Velupillai S, Allali-Hassani A, Bennett J, Christott T, Giroud C, Lewis AM, Huber KVM, Athanasou N, Bountra C, Jung M, Schüle R, Vedadi M, Arrowsmith C, Xiong Y, Jin J, Fedorov O, Farnie G, Brennan PE, Oppermann U. Fagan V, et al. Among authors: dunford je. J Med Chem. 2019 Oct 24;62(20):9008-9025. doi: 10.1021/acs.jmedchem.9b00562. Epub 2019 Oct 15. J Med Chem. 2019. PMID: 31550156
Bromodomain inhibition of the coactivators CBP/EP300 facilitate cellular reprogramming.
Ebrahimi A, Sevinç K, Gürhan Sevinç G, Cribbs AP, Philpott M, Uyulur F, Morova T, Dunford JE, Göklemez S, Arı Ş, Oppermann U, Önder TT. Ebrahimi A, et al. Among authors: dunford je. Nat Chem Biol. 2019 May;15(5):519-528. doi: 10.1038/s41589-019-0264-z. Epub 2019 Apr 8. Nat Chem Biol. 2019. PMID: 30962627 Free PMC article.
41 results