1 - 25 of 43 results for author:"Mane S." in Literature citations
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| Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Bilguvar K., Tyagi N.K., Ozkara C., Tuysuz B., Bakircioglu M., Choi M., Delil S., Caglayan A.O., Baranoski J.F., Erturk O. et al. Proc. Natl. Acad. Sci. U.S.A. 110:3489-3494(2013) · Mapped (4) |
| Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Clark V.E., Erson-Omay E.Z., Serin A., Yin J., Cotney J., Ozduman K., Avsar T., Li J., Murray P.B., Henegariu O. et al. Science 339:1077-1080(2013) · Mapped (14) |
| Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Krauthammer M., Kong Y., Ha B.H., Evans P., Bacchiocchi A., McCusker J.P., Cheng E., Davis M.J., Goh G., Choi M. et al. Nat. Genet. 44:1006-1014(2012) · Mapped (1) |
| Genomic comparison between a virulent type A1 strain of Francisella tularensis and its attenuated O-antigen mutant. Modise T., Ryder C., Mane S.P., Bandara A.B., Jensen R.V., Inzana T.J. J. Bacteriol. 194:2775-2776(2012) · UniProtKB (3,055) |
| De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Sanders S.J., Murtha M.T., Gupta A.R., Murdoch J.D., Raubeson M.J., Willsey A.J., Ercan-Sencicek A.G., DiLullo N.M., Parikshak N.N., Stein J.L. et al. Nature 485:237-241(2012) · Mapped (4) |
| Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Boyden L.M., Choi M., Choate K.A., Nelson-Williams C.J., Farhi A., Toka H.R., Tikhonova I.R., Bjornson R., Mane S.M., Colussi G. et al. |
| Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Fernandez T.V., Sanders S.J., Yurkiewicz I.R., Ercan-Sencicek A.G., Kim Y.S., Fishman D.O., Raubeson M.J., Song Y., Yasuno K., Ho W.S. et al. Biol. Psychiatry 71:392-402(2012) · Mapped (7) |
| Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk. Yasuno K., Bakırcıoglu M., Low S.K., Bilguvar K., Gaal E., Ruigrok Y.M., Niemela M., Hata A., Bijlenga P., Kasuya H. et al. Proc. Natl. Acad. Sci. U.S.A. 108:19707-19712(2011) · Mapped (1) |
| Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. Walker R.H., Schulz V.P., Tikhonova I.R., Mahajan M.C., Mane S., Arroyo Muniz M., Gallagher P.G. Mov. Disord. 27:539-543(2012) · Mapped (2) |
| Early life stress inhibits expression of a novel innate immune pathway in the developing hippocampus. Wei L., Simen A., Mane S., Kaffman A. Neuropsychopharmacology 37:567-580(2012) · Mapped (1) |
| Recessive LAMC3 mutations cause malformations of occipital cortical development. Barak T., Kwan K.Y., Louvi A., Demirbilek V., Saygi S., Tuysuz B., Choi M., Boyaci H., Doerschner K., Zhu Y. et al. |
| K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Choi M., Scholl U.I., Yue P., Bjorklund P., Zhao B., Nelson-Williams C., Ji W., Cho Y., Patel A., Men C.J. et al. |
| Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation. Keramati A.R., Singh R., Lin A., Faramarzi S., Ye Z.J., Mane S., Tellides G., Lifton R.P., Mani A. Proc. Natl. Acad. Sci. U.S.A. 108:1914-1918(2011) · Mapped (6) |
| The genome of woodland strawberry (Fragaria vesca). Shulaev V., Sargent D.J., Crowhurst R.N., Mockler T.C., Folkerts O., Delcher A.L., Jaiswal P., Mockaitis K., Liston A., Mane S.P. et al. Nat. Genet. 43:109-116(2011) · UniProtKB (80) |
| Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Mistry P.K., Liu J., Yang M., Nottoli T., McGrath J., Jain D., Zhang K., Keutzer J., Chuang W.L., Chuang W.L. et al. Proc. Natl. Acad. Sci. U.S.A. 107:19473-19478(2010) · Mapped (1) |
| Multi-platform next-generation sequencing of the domestic turkey (Meleagris gallopavo): genome assembly and analysis. Dalloul R.A., Long J.A., Zimin A.V., Aslam L., Beal K., Blomberg L.A., Bouffard P., Burt D.W., Crasta O., Crooijmans R.P. et al. PLoS Biol. 8:E1000475-E1000475(2010) · UniProtKB (16,478) |
| Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Bilguvar K., Ozturk A.K., Louvi A., Kwan K.Y., Choi M., Tatli B., Yalnizoglu D., Tuysuz B., Caglayan A.O., Gokben S. et al. |
| A novel miRNA processing pathway independent of Dicer requires Argonaute2 catalytic activity. Cifuentes D., Xue H., Taylor D.W., Patnode H., Mishima Y., Cheloufi S., Ma E., Mane S., Hannon G.J., Lawson N.D. et al. Science 328:1694-1698(2010) · Mapped (6) |
| L-histidine decarboxylase and Tourette's syndrome. Ercan-Sencicek A.G., Stillman A.A., Ghosh A.K., Bilguvar K., O'Roak B.J., Mason C.E., Abbott T., Gupta A., King R.A., Pauls D.L. et al. N. Engl. J. Med. 362:1901-1908(2010) · Mapped (2) |
| Host-interactive genes in Amerindian Helicobacter pylori diverge from their Old World homologs and mediate inflammatory responses. Mane S.P., Dominguez-Bello M.G., Blaser M.J., Sobral B.W., Hontecillas R., Skoneczka J., Mohapatra S.K., Crasta O.R., Evans C., Modise T. et al. J. Bacteriol. 192:3078-3092(2010) · UniProtKB (1,565) |
| Genome-wide association study of intracranial aneurysm identifies three new risk loci. Yasuno K., Bilguvar K., Bijlenga P., Low S.K., Krischek B., Auburger G., Simon M., Krex D., Arlier Z., Nayak N. et al. Nat. Genet. 42:420-425(2010) · Mapped (9) |
| Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Choi M., Scholl U.I., Ji W., Liu T., Tikhonova I.R., Zumbo P., Nayir A., Bakkaloglu A., Ozen S., Sanjad S. et al. Proc. Natl. Acad. Sci. U.S.A. 106:19096-19101(2009) · UniProtKB (1) |
| A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. Bayrakli F., Guney I., Bayri Y., Ercan-Sencicek A.G., Ceyhan D., Cankaya T., Mason C., Bilguvar K., Bayrakli S., Mane S.M. et al. J Clin Neurosci 16:1610-1614(2009) · Mapped (12) |
| Role for MKL1 in megakaryocytic maturation. Cheng E.C., Luo Q., Bruscia E.M., Renda M.J., Troy J.A., Massaro S.A., Tuck D., Schulz V., Mane S.M., Berliner N. et al. Blood 113:2826-2834(2009) · Mapped (9) |
| Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity. Hirunsatit R., George E.D., Lipska B.K., Elwafi H.M., Sander L., Yrigollen C.M., Gelernter J., Grigorenko E.L., Lappalainen J., Mane S. et al. Pharmacogenet. Genomics 19:53-65(2009) · Mapped (2) |