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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J. Tarpey PS, et al. Among authors: rodriguez j. Nat Genet. 2007 Sep;39(9):1127-33. doi: 10.1038/ng2100. Epub 2007 Aug 19. Nat Genet. 2007. PMID: 17704778 Free PMC article.
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gecz J, Futreal PA, Stratton MR, Partington M. Tarpey PS, et al. Among authors: rodriguez j. Am J Hum Genet. 2007 Feb;80(2):345-52. doi: 10.1086/511134. Epub 2007 Jan 4. Am J Hum Genet. 2007. PMID: 17236139 Free PMC article.
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.
Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, Hayashi T, Suzuki E, Jiang Y, Zhang L, Rodriguez J, Boyle J, Tarpey P, Raymond FL, Nevelsteen J, Froyen G, Stratton M, Futreal A, Gecz J, Stevenson R, Schwartz CE, Valle D, Huganir RL, Wang T. Wu Y, et al. Among authors: rodriguez j. Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18163-8. doi: 10.1073/pnas.0708699104. Epub 2007 Nov 7. Proc Natl Acad Sci U S A. 2007. PMID: 17989220 Free PMC article.
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.
Nguyen LS, Jolly L, Shoubridge C, Chan WK, Huang L, Laumonnier F, Raynaud M, Hackett A, Field M, Rodriguez J, Srivastava AK, Lee Y, Long R, Addington AM, Rapoport JL, Suren S, Hahn CN, Gamble J, Wilkinson MF, Corbett MA, Gecz J. Nguyen LS, et al. Among authors: rodriguez j. Mol Psychiatry. 2012 Nov;17(11):1103-15. doi: 10.1038/mp.2011.163. Epub 2011 Dec 20. Mol Psychiatry. 2012. PMID: 22182939 Free PMC article.
UBE2A-related X-linked intellectual disability.
Stevenson RE, Chudley AE, Srivastava AK, Rodriguez J, Friez MJ, Schwartz CE. Stevenson RE, et al. Among authors: rodriguez j. Clin Dysmorphol. 2019 Jan;28(1):1-6. doi: 10.1097/MCD.0000000000000242. Clin Dysmorphol. 2019. PMID: 30179896 Free PMC article.
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.
Vieira GH, Rodriguez JD, Boy R, de Paiva IS, DuPont BR, Moretti-Ferreira D, Srivastava AK. Vieira GH, et al. Am J Med Genet A. 2011 May;155A(5):988-92. doi: 10.1002/ajmg.a.33960. Epub 2011 Apr 7. Am J Med Genet A. 2011. PMID: 21480478 No abstract available.
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK. Vieira GH, et al. Eur J Hum Genet. 2012 Feb;20(2):148-54. doi: 10.1038/ejhg.2011.167. Epub 2011 Sep 7. Eur J Hum Genet. 2012. PMID: 21897445 Free PMC article.
Uric Acid and acute kidney injury in high-risk patients for developing Acute Kidney Injury undergoing cardiac surgery: a prospective multicenter study.
Nagore D, Candela A, Bürge M, Tamayo E, Murie-Fernández M, Vives M, Monedero P, Álvarez J, Mendez E, Pasqualetto A, Mon T, Pita R, Varela MA, Esteva C, Pereira MA, Sanchez J, Rodriguez MA, Garcia A, Carmona P, López M, Pajares A, Vicente R, Aparicio R, Gragera I, Calderón E, Marcos JM, Gómez L, Rodríguez JM, Matilla A, Medina A, Hernández A, Morales L, Santana L, Garcia E, Montesinos S, Muñoz P, Bravo B, Alvarez J, Blanco V; en nombre del Grupo Español de Investigación en Cirugía Cardiaca Perioperatoria. Nagore D, et al. Among authors: rodriguez jm. Rev Esp Anestesiol Reanim (Engl Ed). 2024 May 2:S2341-1929(24)00094-5. doi: 10.1016/j.redare.2024.04.019. Online ahead of print. Rev Esp Anestesiol Reanim (Engl Ed). 2024. PMID: 38704092
8,767 results