[1] Williams C L. Kazutoshi Mori and Peter Walter receive the 2014 Albert Lasker Basic Medical Research Award[J]. J Clin Invest, 2014, 124(10): 4138-4142[2] Mori K, Sant A, Kohno K,et al. A 22 bp cis-acting element is necessary and sufficient for the induction of the yeast KAR2 (BiP) gene by unfolded proteins[J]. Embo J, 1992, 11(7): 2583-2593.[3] Cox J S, Shamu C E, Walter P. Transcriptional induction of genes encoding endoplasmic reticulum resident proteins requires a transmembrane protein kinase[J]. Cell, 1993, 73(6): 1197-1206.[4] Mori K, Ma W, Gething M J,et al. A transmembrane protein with a cdc2+/CDC28-related kinase activity is required for signaling from the ER to the nucleus[J]. Cell, 1993, 74(4): 743-756.[5] Cox J S,Walter P. A novel mechanism for regulating activity of a transcription factor that controls the unfolded protein response[J]. Cell, 1996, 87(3): 391-404.[6] Mori K, Kawahara T, Yoshida H,et al. Signalling from endoplasmic reticulum to nucleus: transcription factor with a basic-leucine zipper motif is required for the unfolded protein-response pathway[J]. Genes Cells, 1996, 1(9): 803-817.[7] Sidrauski C, Cox J S, Walter P. tRNA ligase is required for regulated mRNA splicing in the unfolded protein response[J]. Cell, 1996, 87(3): 405-413.[8] Kawahara T, Yanagi H, Yura T,et al. Endoplasmic reticulum stress-induced mRNA splicing permits synthesis of transcription factor Hac1p/Ern4p that activates the unfolded protein response[J]. Mol Biol Cell, 1997, 8(10): 1845-1862.[9] Sidrauski C,Walter P. The transmembrane kinase Ire1p is a site-specific endonuclease that initiates mRNA splicing in the unfolded protein response[J]. Cell, 1997, 90(6): 1031-1039.[10] Kawahara T, Yanagi H, Yura T,et al. Unconventional splicing of HAC1/ERN4 mRNA required for the unfolded protein response. Sequence-specific and non-sequential cleavage of the splice sites[J]. J Biol Chem, 1998, 273(3): 1802-1807.[11] Haze K, Yoshida H, Yanagi H,et al. Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress[J]. Mol Biol Cell, 1999, 10(11): 3787-3799.[12] Ye J, Rawson R B, Komuro R,et al. ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs[J]. Mol Cell, 2000, 6(6): 1355-1364.[13] Yoshida H, Matsui T, Yamamoto A,et al. XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor[J]. Cell, 2001, 107(7): 881-891.[14] Walter P,Blobel G. Purification of a membrane-associated protein complex required for protein translocation across the endoplasmic reticulum[J]. Proc Natl Acad Sci U S A, 1980, 77(12): 7112-7116.[15] Jackson S. Alim-Louis Benabid and Mahlon DeLong win the 2014 Lasker~DeBakey Clinical Medical Research Award[J]. J Clin Invest, 2014, 124(10): 4143-4147.[16] DeLong M R. The neurophysiologic basis of abnormal movements in basal ganglia disorders[J]. Neurobehav Toxicol Teratol, 1983, 5(6): 611-616.[17] Alexander G E, DeLong M R, Strick P L. Parallel organization of functionally segregated circuits linking basal ganglia and cortex[J]. Annu Rev Neurosci, 1986, 9357-381.[18] Miller W C,DeLong M R. Parkinsonian symptomatology. An anatomical and physiological analysis[J]. Ann N Y Acad Sci, 1988, 515287-302.[19] Bergman H, Wichmann T, DeLong M R. Reversal of experimental parkinsonism by lesions of the subthalamic nucleus[J]. Science, 1990, 249(4975): 1436-1438.[20] Vitek J L, Bakay R A, Freeman A,et al. Randomized trial of pallidotomy versus medical therapy for Parkinson's disease[J]. Ann Neurol, 2003, 53(5): 558-569.[21] Gregory R. Surgery for movement disorders[J]. J Neurol Neurosurg Psychiatry, 2002, 72 Supp1:32-35.[22] Benabid A L, Pollak P, Gervason C,et al. Long-term suppression of tremor by chronic stimulation of the ventral intermediate thalamic nucleus[J]. Lancet, 1991, 337(8738): 403-406.[23] Limousin P, Pollak P, Benazzouz A,et al. Effect of parkinsonian signs and symptoms of bilateral subthalamic nucleus stimulation[J]. Lancet, 1995, 345(8942): 91-95.[24] Wilson P W, Abbott R D, Castelli W P. High density lipoprotein cholesterol and mortality. The Framingham Heart Study[J]. Arteriosclerosis, 1988, 8(6): 737-741.[25] Hurst J H. Pioneering geneticist Mary-Claire King receives the 2014 Lasker~Koshland Award for Special Achievement in Medical Science[J]. J Clin Invest, 2014, 124(10): 4148-4151.[26] King M C,Wilson A C. Evolution at two levels in humans and chimpanzees[J]. Science, 1975, 188(4184): 107-116.[27] Newman B, Austin M A, Lee M,et al. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families[J]. Proc Natl Acad Sci U S A, 1988, 85(9): 3044-3048.[28] Hall J M, Lee M K, Newman B,et al. Linkage of early-onset familial breast cancer to chromosome 17q21[J]. Science, 1990, 250(4988): 1684-1689.[29] Goldgar D E, Fields P, Lewis C M,et al. A large kindred with 17q-linked breast and ovarian cancer: genetic, phenotypic, and genealogical analysis[J]. J Natl Cancer Inst, 1994, 86(3): 200-209.[30] Wooster R, Neuhausen S L, Mangion J,et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13[J]. Science, 1994, 265(5181): 2088-2090.[31] Brownstein Z, Friedman L M, Shahin H,et al. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families[J]. Genome Biol, 2011, 12(9): R89.[32] Casadei S, Norquist B M, Walsh T,et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer[J]. Cancer Res, 2011, 71(6): 2222-2229.[33] Nord A S, Roeb W, Dickel D E,et al. Reduced transcript expression of genes affected by inherited and de novo CNVs in autism[J]. Eur J Hum Genet, 2011, 19(6): 727-731.[34] Roeb W, Higgins J, King M C. Response to DNA damage of CHEK2 missense mutations in familial breast cancer[J]. Hum Mol Genet, 2012, 21(12): 2738-2744.[35] Pierce S B, Gersak K, Michaelson-Cohen R,et al. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome[J]. Am J Hum Genet, 2013, 92(4): 614-620.[36] Rippey C, Walsh T, Gulsuner S,et al. Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia[J]. Am J Hum Genet, 2013, 93(4): 697-710.[37] King M C,Motulsky A G. Human genetics. Mapping human history[J]. Science, 2002, 298(5602): 2342-2343.[38] Lipovich L,King M C. Abundant novel transcriptional units and unconventional gene pairs on human chromosome 22[J]. Genome Res, 2006, 16(1): 45-54.[39] Di Lonardo A M, Darlu P, Baur M,et al. Human genetics and human rights. Identifying the families of kidnapped children[J]. Am J Forensic Med Pathol, 1984, 5(4): 339-347. |