1 - 25 of
528
results
for author:"Smith R."
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) |
| GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling. Giovannone B., Tsiaras W.G., de la Monte S., Klysik J., Lautier C., Karashchuk G., Goldwurm S., Smith R.J. Hum. Mol. Genet. 18:4629-4639(2009) · Mapped (4) |
| Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Grillet N., Schwander M., Hildebrand M.S., Sczaniecka A., Kolatkar A., Velasco J., Webster J.A., Kahrizi K., Najmabadi H., Kimberling W.J. et al. Am. J. Hum. Genet. 85:328-337(2009) · UniProtKB (1) · Mapped (2) |
| A claudin-9-based ion permeability barrier is essential for hearing. Nakano Y., Kim S.H., Kim H.M., Sanneman J.D., Zhang Y., Smith R.J., Marcus D.C., Wangemann P., Nessler R.A., Banfi B. PLoS Genet. 5:e1000610-e1000610(2009) · Mapped (5) |
| Accumulation of ubiquitin conjugates in a polyglutamine disease model occurs without global ubiquitin/proteasome system impairment. Maynard C.J., Bottcher C., Ortega Z., Smith R., Florea B.I., Diaz-Hernandez M., Brundin P., Overkleeft H.S., Li J.Y., Lucas J.J. et al. Proc. Natl. Acad. Sci. U.S.A. 106:13986-13991(2009) · Mapped (1) |
| The preproghrelin gene is required for the normal integration of thermoregulation and sleep in mice. Szentirmai E., Kapas L., Sun Y., Smith R.G., Krueger J.M. Proc. Natl. Acad. Sci. U.S.A. 106:14069-14074(2009) · Mapped (7) |
| Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene. Richardson B.C., Smith R.D., Ungar D., Nakamura A., Jeffrey P.D., Lupashin V.V., Hughson F.M. Proc. Natl. Acad. Sci. U.S.A. 106:13329-13334(2009) · Mapped (5) |
| Genetic predictors of increase in suicidal ideation during antidepressant treatment in the GENDEP project. Perroud N., Aitchison K.J., Uher R., Smith R., Huezo-Diaz P., Marusic A., Maier W., Mors O., Placentino A., Henigsberg N. et al. Neuropsychopharmacology 34:2517-2528(2009) · Mapped (15) |
| Intermedin is a new angiogenic growth factor. Smith R.S. Jr., Gao L., Bledsoe G., Chao L., Chao J. Am. J. Physiol. Heart Circ. Physiol. 297:H1040-7(2009) · Mapped (3) |
| An extensive survey of tyrosine phosphorylation revealing new sites in human mammary epithelial cells. Heibeck T.H., Ding S.-J., Opresko L.K., Zhao R., Schepmoes A.A., Yang F., Tolmachev A.V., Monroe M.E., Camp D.G. II, Smith R.D. et al. J. Proteome Res. 8:3852-3861(2009) · UniProtKB (270) |
| No Evidence for Association Between the Renin-Angiotensin-Aldosterone System and Otosclerosis in a Large Belgian-Dutch Population. Schrauwen I., Thys M., Vanderstraeten K., Fransen E., Ealy M., Cremers C.W., Dhooge I., Van de Heyning P., Offeciers E., Smith R.J. et al. Otol. Neurotol. 0:0-0(2009) · Mapped (20) |
| Suppression of urokinase plasminogen activator receptor inhibits proliferation and migration of pancreatic adenocarcinoma cells via regulation of ERK/p38 signaling. Xue A., Xue M., Jackson C., Smith R.C. Int. J. Biochem. Cell Biol. 41:1731-1738(2009) · Mapped (13) |
| Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Yang T., Gurrola J.G., Wu H., Chiu S.M., Wangemann P., Snyder P.M., Smith R.J. Am. J. Hum. Genet. 84:651-657(2009) · Mapped (16) |
| Mycobacterium tuberculosis interferes with the response to infection by inducing the host EphA2 receptor. Khounlotham M., Subbian S., Smith R., Cirillo S.L., Cirillo J.D. J. Infect. Dis. 199:1797-1806(2009) · Mapped (2) |
| An upregulation of DNA-methyltransferase 1 and 3a expressed in telencephalic GABAergic neurons of schizophrenia patients is also detected in peripheral blood lymphocytes. Zhubi A., Veldic M., Puri N.V., Kadriu B., Caruncho H., Loza I., Sershen H., Lajtha A., Smith R.C., Guidotti A. et al. Schizophr. Res. 111:115-122(2009) · Mapped (9) |
| Loss of AND-34/BCAR3 expression in mice results in rupture of the adult lens. Near R.I., Smith R.S., Toselli P.A., Freddo T.F., Bloom A.B., Vanden Borre P., Seldin D.C., Lerner A. Mol. Vis. 15:685-699(2009) · Mapped (1) |
| Genetic predictors of response to antidepressants in the GENDEP project. Uher R., Huezo-Diaz P., Perroud N., Smith R., Rietschel M., Mors O., Hauser J., Maier W., Kozel D., Henigsberg N. et al. Pharmacogenomics J. 9:225-233(2009) · Mapped (55) |
| Human male infertility caused by mutations in the CATSPER1 channel protein. Avenarius M.R., Hildebrand M.S., Zhang Y., Meyer N.C., Smith L.L., Kahrizi K., Najmabadi H., Smith R.J. Am. J. Hum. Genet. 84:505-510(2009) · Mapped (1) |
| Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. Petrie K.A., Lee W.H., Bullock A.N., Pointon J.J., Smith R., Russell R.G., Brown M.A., Wordsworth B.P., Triffitt J.T. |
| 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) |
| Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Shearer A.E., Hildebrand M.S., Webster J.A., Kahrizi K., Meyer N.C., Jalalvand K., Arzhanginy S., Kimberling W.J., Stephan D., Bahlo M. et al. Laryngoscope 119:727-733(2009) · Mapped (9) |
| Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry. Grant S.F., Bradfield J.P., Zhang H., Wang K., Kim C.E., Annaiah K., Santa E., Glessner J.T., Thomas K., Garris M. et al. Obesity (Silver Spring) 17:1461-1465(2009) · Mapped (1) |
| Patterns of plasma corticotropin-releasing hormone, progesterone, estradiol, and estriol change and the onset of human labor. Smith R., Smith J.I., Shen X., Engel P.J., Bowman M.E., McGrath S.A., Bisits A.M., McElduff P., Giles W.B., Smith D.W. J. Clin. Endocrinol. Metab. 94:2066-2074(2009) · Mapped (1) |
| The glucocorticoid receptor heterocomplex gene STIP1 is associated with improved lung function in asthmatic subjects treated with inhaled corticosteroids. Hawkins G.A., Lazarus R., Smith R.S., Tantisira K.G., Meyers D.A., Peters S.P., Weiss S.T., Bleecker E.R. J. Allergy Clin. Immunol. 123:1376-83.e7(2009) · Mapped (39) |
| A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Schrauwen I., Ealy M., Huentelman M.J., Thys M., Homer N., Vanderstraeten K., Fransen E., Corneveaux J.J., Craig D.W., Claustres M. et al. Am. J. Hum. Genet. 84:328-338(2009) · Mapped (12) |
