21
results
for author:"Edkins S."
in Literature Citations
| Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. van Haaften G., Dalgliesh G.L., Davies H., Chen L., Bignell G., Greenman C., Edkins S., Hardy C., O'Meara S., Teague J. et al. Nat. Genet. 41:521-523(2009) · Mapped (12) |
| LKB1/KRAS mutant lung cancers constitute a genetic subset of NSCLC with increased sensitivity to MAPK and mTOR signalling inhibition. Mahoney C.L., Choudhury B., Davies H., Edkins S., Greenman C., Haaften G., Mironenko T., Santarius T., Stevens C., Stratton M.R. et al. Br. J. Cancer 100:370-375(2009) · Mapped (6) |
| X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Dibbens L.M., Tarpey P.S., Hynes K., Bayly M.A., Scheffer I.E., Smith R., Bomar J., Sutton E., Vandeleur L., Shoubridge C. et al. |
| 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) |
| 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) |
| 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) |
| Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers. Maser R.S., Choudhury B., Campbell P.J., Feng B., Wong K.K., Protopopov A., O'Neil J., Gutierrez A., Ivanova E., Perna I. et al. Nature 447:966-971(2007) · Mapped (5) |
| The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. Schwartz C.E., Tarpey P.S., Lubs H.A., Verloes A., May M.M., Risheg H., Friez M.J., Futreal P.A., Edkins S., Teague J. et al. J. Med. Genet. 44:472-477(2007) · UniProtKB (1) · Mapped (7) |
| Patterns of somatic mutation in human cancer genomes. Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C. et al. Nature 446:153-158(2007) · UniProtKB (453) |
| A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Tarpey P., Pemberton T.J., Stockton D.W., Das P., Ninis V., Edkins S., Andrew Futreal P., Wooster R., Kamath S., Nayak R. et al. Am. J. Med. Genet. A 143:390-394(2007) · UniProtKB (1) |
| 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) |
| Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. Field M., Tarpey P., Boyle J., Edkins S., Goodship J., Luo Y., Moon J., Teague J., Stratton M.R., Futreal P.A. et al. Clin. Genet. 70:509-515(2006) · Mapped (8) |
| Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Tarpey P., Thomas S., Sarvananthan N., Mallya U., Lisgo S., Talbot C.J., Roberts E.O., Awan M., Surendran M., McLean R.J. et al. |
| Recurrent KRAS codon 146 mutations in human colorectal cancer. Edkins S., O'Meara S., Parker A., Stevens C., Reis M., Jones S., Greenman C., Davies H., Dalgliesh G., Forbes S. et al. Cancer Biol. Ther. 5:928-932(2006) · Mapped (8) |
| The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Scott L.M., Campbell P.J., Baxter E.J., Todd T., Stephens P., Edkins S., Wooster R., Stratton M.R., Futreal P.A., Green A.R. Blood 106:2920-2921(2005) · Mapped (6) |
| Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults. Bignell G., Smith R., Hunter C., Stephens P., Davies H., Greenman C., Teague J., Butler A., Edkins S., Stevens C. et al. Genes Chromosomes Cancer 45:42-46(2006) · UniProtKB (2) |
| Lung cancer: intragenic ERBB2 kinase mutations in tumours. Stephens P., Hunter C., Bignell G., Edkins S., Davies H., Teague J., Stevens C., O'Meara S., Smith R., Parker A. et al. Nature 431:525-526(2004) · Mapped (8) |
| Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Tarpey P., Parnau J., Blow M., Woffendin H., Bignell G., Cox C., Cox J., Davies H., Edkins S., Holden S. et al. Am. J. Hum. Genet. 75:318-324(2004) · UniProtKB (1) · Mapped (4) |
| Mutations of the BRAF gene in human cancer. Davies H., Bignell G.R., Cox C., Stephens P., Edkins S., Clegg S., Teague J., Woffendin H., Garnett M.J., Bottomley W. et al. |
