14 results for uniprot:Q8WXH2 in Computationally mapped citations
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| Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Stevanin G., Fujigasaki H., Lebre A.S., Camuzat A., Jeannequin C., Dode C., Takahashi J., San C., Bellance R., Brice A. et al. Brain 126:1599-1603(2003) GeneRIF 57338 · Mapped (13) |
| JP-3 gene polymorphism in a healthy population of Serbia and Montenegro. Keckarevic M., Savic D., Romac S. J. Genet. 84:69-71(2005) GeneRIF 57338 · Mapped (6) |
| Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. Costa M.d.o. C., Teixeira-Castro A., Constante M., Magalhaes M., Magalhaes P., Cerqueira J., Vale J., Passao V., Barbosa C., Robalo C. et al. J. Hum. Genet. 51:645-651(2006) GeneRIF 57338 · Mapped (46) |
| A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. Bardien S., Abrahams F., Soodyall H., van der Merwe L., Greenberg J., Brink T., Carr J. Mov. Disord. 22:2083-2089(2007) GeneRIF 57338 · Mapped (6) |
| Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. Sulek-Piatkowska A., Krysa W., Zdzienicka E., Szirkowiec W., Hoffman-Zacharska D., Rajkiewicz M., Fidzianska E., Kowalska G., Zaremba J. Neurol. Neurochir. Pol. 42:203-209(2008) GeneRIF 57338 · Mapped (19) |
| Huntington's disease-like 2 in Brazil--report of 4 patients. Rodrigues G.G., Walker R.H., Brice A., Cazeneuve C., Russaouen O., Teive H.A., Munhoz R.P., Becker N., Raskin S., Werneck L.C. et al. Mov. Disord. 23:2244-2247(2008) GeneRIF 57338 · Mapped (6) |
| Association of gene polymorphisms with chronic kidney disease in Japanese individuals. Yoshida T., Kato K., Yokoi K., Oguri M., Watanabe S., Metoki N., Yoshida H., Satoh K., Aoyagi Y., Nozawa Y. et al. Int. J. Mol. Med. 24:539-547(2009) GeneRIF 57338 · Mapped (104) |
| Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. Oguri M., Kato K., Yokoi K., Yoshida T., Watanabe S., Metoki N., Yoshida H., Satoh K., Aoyagi Y., Nozawa Y. et al. Am. J. Hypertens. 23:70-77(2010) GeneRIF 57338 GAD 564062 · Mapped (513) |
| Association of genetic variants with hemorrhagic stroke in Japanese individuals. Yoshida T., Kato K., Yokoi K., Oguri M., Watanabe S., Metoki N., Yoshida H., Satoh K., Aoyagi Y., Nozawa Y. et al. Int. J. Mol. Med. 25:649-656(2010) GeneRIF 57338 · Mapped (457) |
| Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose J.E., Behm F.M., Drgon T., Johnson C., Uhl G.R. Mol. Med. 16:247-253(2010) GeneRIF 57338 · Mapped (9,843) |
| An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Wilburn B., Rudnicki D.D., Zhao J., Weitz T.M., Cheng Y., Gu X., Greiner E., Park C.S., Wang N., Sopher B.L. et al. Neuron 70:427-440(2011) GeneRIF 57338 · Mapped (6) |
| Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis. Seixas A.I., Holmes S.E., Takeshima H., Pavlovich A., Sachs N., Pruitt J.L., Silveira I., Ross C.A., Margolis R.L., Rudnicki D.D. Ann. Neurol. 71:245-257(2012) GeneRIF 57338 · Mapped (6) |
| JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family. Schneider S.A., Marshall K.E., Xiao J., LeDoux M.S. Neurogenetics 13:133-140(2012) GeneRIF 57338 · Mapped (6) |
| Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity. Grimsby S., Jaensson H., Dubrovska A., Lomnytska M., Hellman U., Souchelnytskyi S. FEBS Lett. 577:93-100(2004) MINT MINT-1208946 · Mapped (23) |

