PNKD

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Paroxysmal nonkinesiogenic dyskinesia
Identifiers
Symbol(s) PNKD; MR1; PDC; BRP17; DKFZp564N1362; DYT8; FKSG19; FPD1; KIAA1184; KIPP1184; MGC31943; MR-1; TAHCCP2
External IDs OMIM: 609023 MGI: 1930773 HomoloGene: 75045
Orthologs
Human Mouse
Entrez 25953 56695
Ensembl ENSG00000127838 ENSMUSG00000026179
Refseq NM_001077399 (mRNA)
NP_001070867 (protein)		 NM_001039509 (mRNA)
NP_001034598 (protein)
Location Chr 2: 218.84 - 218.92 Mb Chr 1: 74.22 - 74.29 Mb
Pubmed search [1] [2]

Paroxysmal nonkinesiogenic dyskinesia, also known as PNKD, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: PNKD paroxysmal nonkinesiogenic dyskinesia.

[edit] Further reading

  • Sparkes RS, Lee RH, Shinohara T, et al. (1994). "Assignment of the phosducin (PDC) gene to human chromosome 1q25-1q32.1 by somatic cell hybridization and in situ hybridization.". Genomics 18 (2): 426–8. doi:10.1006/geno.1993.1490. PMID 8288249. 
  • Fouad GT, Servidei S, Durcan S, et al. (1996). "A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.". Am. J. Hum. Genet. 59 (1): 135–9. PMID 8659517. 
  • Fink JK, Rainer S, Wilkowski J, et al. (1996). "Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.". Am. J. Hum. Genet. 59 (1): 140–5. PMID 8659518. 
  • Raskind WH, Bolin T, Wolff J, et al. (1998). "Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.". Hum. Genet. 102 (1): 93–7. PMID 9490305. 
  • Hirosawa M, Nagase T, Ishikawa K, et al. (2000). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.". DNA Res. 6 (5): 329–36. PMID 10574461. 
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863. 
  • Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMID 11256614. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309. 
  • Li TB, Liu XH, Feng S, et al. (2005). "Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle.". Acta Biochim. Biophys. Sin. (Shanghai) 36 (6): 412–8. PMID 15188056. 
  • Liu M, Liu Y, Cheng J, et al. (2004). "Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study.". World J. Gastroenterol. 10 (12): 1746–9. PMID 15188498. 
  • Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336. 
  • Lee HY, Xu Y, Huang Y, et al. (2005). "The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.". Hum. Mol. Genet. 13 (24): 3161–70. doi:10.1093/hmg/ddh330. PMID 15496428. 
  • Diniz SC, Taciro MK, Gomez JG, da Cruz Pradella JG (2005). "High-cell-density cultivation of Pseudomonas putida IPT 046 and medium-chain-length polyhydroxyalkanoate production from sugarcane carbohydrates.". Appl. Biochem. Biotechnol. 119 (1): 51–70. PMID 15496728. 
  • Chen DH, Matsushita M, Rainier S, et al. (2005). "Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.". Arch. Neurol. 62 (4): 597–600. doi:10.1001/archneur.62.4.597. PMID 15824259. 
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  • Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMID 16381901. 
  • Stefanova E, Djarmati A, Momcilović D, et al. (2007). "Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation.". Mov. Disord. 21 (11): 2010–5. doi:10.1002/mds.21095. PMID 16972263. 
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