1 - 25 of
72
results
for author:"Turner G."
in Literature Citations
| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Hynes K., Tarpey P., Dibbens L.M., Bayly M.A., Berkovic S.F., Smith R., Al Raisi Z., Turner S.J., Brown N.J., Desai T.D. et al. J. Med. Genet. 0:0-0(2009) · Mapped (2) |
| Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome. Nijnik A., Dawson S., Crockford T.L., Woodbine L., Visetnoi S., Bennett S., Jones M., Turner G.D., Jeggo P.A., Goodnow C.C. et al. J. Clin. Invest. 119:1696-1705(2009) · Mapped (6) |
| Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G., Zhernakova A., Romanos J., Franke L., Hunt K.A., Turner G., Bruinenberg M., Heap G.A., Platteel M., Ryan A.W. et al. Gut 58:1078-1083(2009) · Mapped (931) |
| Depletion of the MobB and CotA complex in Aspergillus nidulans causes defects in polarity maintenance that can be suppressed by the environment stress. Shi J., Chen W., Liu Q., Chen S., Hu H., Turner G., Lu L. Fungal Genet. Biol. 45:1570-1581(2008) · UniProtKB (1) |
| Amino acids induce peptide uptake via accelerated degradation of CUP9, the transcriptional repressor of the PTR2 peptide transporter. Xia Z., Turner G.C., Hwang C.S., Byrd C., Varshavsky A. J. Biol. Chem. 283:28958-28968(2008) · Mapped (12) |
| Host vascular endothelial growth factor is trophic for Plasmodium falciparum-infected red blood cells. Sachanonta N., Medana I.M., Roberts R., Jones M., Day N.P., White N.J., Ferguson D.J., Turner G.D., Pongponratn E. Asian Pac. J. Allergy Immunol. 26:37-45(2008) · Mapped (7) |
| Facilitated neurotrophin release in sensitized human skin. Paterson S., Schmelz M., McGlone F., Turner G., Rukwied R. Eur J Pain 13:399-405(2009) · Mapped (6) |
| Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Molinari F., Foulquier F., Tarpey P.S., Morelle W., Boissel S., Teague J., Edkins S., Futreal P.A., Stratton M.R., Turner G. et al. Am. J. Hum. Genet. 82:1150-1157(2008) · UniProtKB (2) · Mapped (8) |
| Genomic islands in the pathogenic filamentous fungus Aspergillus fumigatus. Fedorova N.D., Khaldi N., Joardar V.S., Maiti R., Amedeo P., Anderson M.J., Crabtree J., Silva J.C., Badger J.H., Albarraq A. et al. PLoS Genet. 4:E1000046-E1000046(2008) · UniProtKB (29,446) |
| MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Frints S.G., Lenzner S., Bauters M., Jensen L.R., Van Esch H., des Portes V., Moog U., Macville M.V., van Roozendaal K., Schrander-Stumpel C.T. et al. Eur. J. Hum. Genet. 16:1029-1037(2008) · UniProtKB (1) · Mapped (1) |
| SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Gilfillan G.D., Selmer K.K., Roxrud I., Smith R., Kyllerman M., Eiklid K., Kroken M., Mattingsdal M., Egeland T., Stenmark H. et al. Am. J. Hum. Genet. 82:1003-1010(2008) · UniProtKB (1) · Mapped (9) |
| Newly identified genetic risk variants for celiac disease related to the immune response. Hunt K.A., Zhernakova A., Turner G., Heap G.A.R., Franke L., Bruinenberg M., Romanos J., Dinesen L.C., Ryan A.W., Panesar D. et al. |
| Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Froyen G., Corbett M., Vandewalle J., Jarvela I., Lawrence O., Meldrum C., Bauters M., Govaerts K., Vandeleur L., Van Esch H. et al. Am. J. Hum. Genet. 82:432-443(2008) · UniProtKB (2) · Mapped (12) |
| Characterisation of Aspergillus nidulans polarisome component BemA. Leeder A.C., Turner G. Fungal Genet. Biol. 45:897-911(2008) · Mapped (1) |
| Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Wu Y., Arai A.C., Rumbaugh G., Srivastava A.K., Turner G., Hayashi T., Suzuki E., Jiang Y., Zhang L., Rodriguez J. et al. Proc. Natl. Acad. Sci. U.S.A. 104:18163-18168(2007) · UniProtKB (1) · Mapped (7) |
| Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Tarpey P.S., Raymond F.L., Nguyen L.S., Rodriguez J., Hackett A., Vandeleur L., Smith R., Shoubridge C., Edkins S., Stevens C. et al. |
| Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Field M., Tarpey P.S., Smith R., Edkins S., O'Meara S., Stevens C., Tofts C., Teague J., Butler A., Dicks E. et al. Am. J. Hum. Genet. 81:367-374(2007) · UniProtKB (1) |
| The VHL tumor suppressor inhibits expression of the IGF1R and its loss induces IGF1R upregulation in human clear cell renal carcinoma. Yuen J.S., Cockman M.E., Sullivan M., Protheroe A., Turner G.D., Roberts I.S., Pugh C.W., Werner H., Macaulay V.M. Oncogene 26:6499-6508(2007) · Mapped (6) |
| Emergence of Arctic-like rabies lineage in India. Nadin-Davis S.A., Turner G., Paul J.P., Madhusudana S.N., Wandeler A.I. Emerging Infect. Dis. 13:111-116(2007) · UniProtKB (37) |
| Age of cichlids: new dates for ancient lake fish radiations. Genner M.J., Seehausen O., Lunt D.H., Joyce D.A., Shaw P.W., Carvalho G.R., Turner G.F. Mol. Biol. Evol. 24:1269-1282(2007) · UniProtKB (25) |
| Cerebral calpain in fatal falciparum malaria. Medana I.M., Day N.P., Hien T.T., Mai N.T., Bethell D., Phu N.H., Turner G.D., Farrar J., White N.J., Esiri M.M. Neuropathol. Appl. Neurobiol. 33:179-192(2007) · Mapped (11) |
| Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Froyen G., Bauters M., Boyle J., Van Esch H., Govaerts K., van Bokhoven H., Ropers H.H., Moraine C., Chelly J., Fryns J.P. et al. Hum. Genet. 121:539-547(2007) |
| Genome sequencing and analysis of the versatile cell factory Aspergillus niger CBS 513.88. Pel H.J., de Winde J.H., Archer D.B., Dyer P.S., Hofmann G., Schaap P.J., Turner G., de Vries R.P., Albang R., Albermann K. et al. Nat. Biotechnol. 25:221-231(2007) · UniProtKB (13,906) |
| 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 P.S., Raymond F.L., O'Meara S., Edkins S., Teague J., Butler A., Dicks E., Stevens C., Tofts C., Avis T. et al. Am. J. Hum. Genet. 80:345-352(2007) · UniProtKB (1) · Mapped (2) |
| Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Tarpey P.S., Stevens C., Teague J., Edkins S., O'Meara S., Avis T., Barthorpe S., Buck G., Butler A., Cole J. et al. Am. J. Hum. Genet. 79:1119-1124(2006) · UniProtKB (1) |
