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Page 1
PCNA mutation affects DNA repair not replication.
Green CM, Baple EL, Crosby AH. Green CM, et al. Among authors: crosby ah. Cell Cycle. 2014;13(20):3157-8. doi: 10.4161/15384101.2014.969994. Cell Cycle. 2014. PMID: 25485490 Free PMC article. No abstract available.
Mutation of HERC2 causes developmental delay with Angelman-like features.
Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH. Harlalka GV, et al. Among authors: crosby ah. J Med Genet. 2013 Feb;50(2):65-73. doi: 10.1136/jmedgenet-2012-101367. Epub 2012 Dec 14. J Med Genet. 2013. PMID: 23243086
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH. Baple EL, et al. Among authors: crosby ah. J Clin Invest. 2014 Jul;124(7):3137-46. doi: 10.1172/JCI74593. Epub 2014 Jun 9. J Clin Invest. 2014. PMID: 24911150 Free PMC article.
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH. Ahmed MY, et al. Among authors: crosby ah. Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318. Brain. 2017. PMID: 28052917 Free PMC article.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. Zollo M, et al. Among authors: crosby ah. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. Brain. 2017. PMID: 28334956 Free PMC article.
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH. Wang H, et al. Among authors: crosby ah. Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249. Brain. 2017. PMID: 29088354 Free PMC article.
146 results