Publications
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“A comprehensive review of microRNA-related polymorphisms in gastric cancer”, vol. 15, p. -, 2016.
, “A comprehensive review of microRNA-related polymorphisms in gastric cancer”, vol. 15, p. -, 2016.
, “A new single-nucleotide mutation (rs362719) of the reelin (RELN) gene associated with schizophrenia in female Chinese Han”, vol. 10, pp. 1650-1658, 2011.
, Abdolmaleky HM, Cheng KH, Russo A, Smith CL, et al. (2005). Hypermethylation of the reelin (RELN) promoter in the brain of schizophrenic patients: a preliminary report. Am. J. Med. Genet. B Neuropsychiatr. Genet. 134B: 60-66.
http://dx.doi.org/10.1002/ajmg.b.30140
PMid:15717292
Aleman A, Kahn RS and Selten JP (2003). Sex differences in the risk of schizophrenia: evidence from meta-analysis. Arch. Gen. Psychiatry 60: 565-571.
http://dx.doi.org/10.1001/archpsyc.60.6.565
PMid:12796219
American Psychiatric Association (2000). Diagnostic and Statistical Manual of Mental Disorders. American Psychiatric Association, Washington.
Badner JA and Gershon ES (2002a). Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol. Psychiatry 7: 405-411.
http://dx.doi.org/10.1038/sj.mp.4001012
PMid:11986984
Badner JA and Gershon ES (2002b). Regional meta-analysis of published data supports linkage of autism with markers on chromosome 7. Mol. Psychiatry 7: 56-66.
http://dx.doi.org/10.1038/sj.mp.4000922
PMid:11803446
Berrettini W (2003). Evidence for shared susceptibility in bipolar disorder and schizophrenia. Am. J. Med. Genet. C Semin. Med. Genet. 123C: 59-64.
http://dx.doi.org/10.1002/ajmg.c.20014
PMid:14601037
Cardno AG and Gottesman II (2000). Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics. Am. J. Med. Genet. 97: 12-17.
http://dx.doi.org/10.1002/(SICI)1096-8628(200021)97:1<12::AID-AJMG3>3.0.CO;2-U
Cardno AG, Rijsdijk FV, Sham PC, Murray RM, et al. (2002). A twin study of genetic relationships between psychotic symptoms. Am. J. Psychiatry 159: 539-545.
http://dx.doi.org/10.1176/appi.ajp.159.4.539
PMid:11925290
Chameau P, Inta D, Vitalis T, Monyer H, et al. (2009). The N-terminal region of reelin regulates postnatal dendritic maturation of cortical pyramidal neurons. Proc. Natl. Acad. Sci. U. S. A. 106: 7227-7232.
http://dx.doi.org/10.1073/pnas.0810764106
PMid:19366679 PMCid:2678467
Chen Y, Beffert U, Ertunc M, Tang TS, et al. (2005). Reelin modulates NMDA receptor activity in cortical neurons. J. Neurosci. 25: 8209-8216.
http://dx.doi.org/10.1523/JNEUROSCI.1951-05.2005
PMid:16148228
Clinton SM and Meador-Woodruff JH (2004). Abnormalities of the NMDA receptor and associated intracellular molecules in the thalamus in schizophrenia and bipolar disorder. Neuropsychopharmacology 29: 1353-1362.
http://dx.doi.org/10.1038/sj.npp.1300451
PMid:15054476
Craddock N and Owen MJ (2005). The beginning of the end for the Kraepelinian dichotomy. Br. J. Psychiatry 186: 364-366.
http://dx.doi.org/10.1192/bjp.186.5.364
PMid:15863738
de Vries GJ (2008). Sex differences in vasopressin and oxytocin innervation of the brain. Prog. Brain Res. 170: 17-27.
http://dx.doi.org/10.1016/S0079-6123(08)00402-0
Dong E, Guidotti A, Grayson DR and Costa E (2007). Histone hyperacetylation induces demethylation of reelin and 67- kDa glutamic acid decarboxylase promoters. Proc. Natl. Acad. Sci. U. S. A. 104: 4676-4681.
http://dx.doi.org/10.1073/pnas.0700529104
PMid:17360583 PMCid:1815468
Dong E, Nelson M, Grayson DR, Costa E, et al. (2008). Clozapine and sulpiride but not haloperidol or olanzapine activate brain DNA demethylation. Proc. Natl. Acad. Sci U. S. A. 105: 13614-13619.
http://dx.doi.org/10.1073/pnas.0805493105
PMid:18757738 PMCid:2533238
Eastwood S and Harrison P (2003). Interstitial white matter neurons express less reelin and are abnormally distributed in schizophrenia: towards an integration of molecular and morphologic aspects of the neurodevelopmental hypothesis. Mol. Psychiatry 8: 821-831.
http://dx.doi.org/10.1038/sj.mp.4001371
PMid:12931209
Fatemi SH, Earle JA and McMenomy T (2000). Reduction in Reelin immunoreactivity in hippocampus of subjects with schizophrenia, bipolar disorder and major depression. Mol. Psychiatry 5: 654-663.
http://dx.doi.org/10.1038/sj.mp.4000783
PMid:11126396
Goes FS, Willour VL, Zandi PP, Belmonte PL, et al. (2010). Sex-specific association of the Reelin gene with bipolar disorder. Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B: 549-553.
PMid:19691043 PMCid:3032172
Grayson DR, Jia X, Chen Y, Sharma RP, et al. (2005). Reelin promoter hypermethylation in schizophrenia. Proc. Natl. Acad. Sci. U. S. A. 102: 9341-9346.
http://dx.doi.org/10.1073/pnas.0503736102
PMid:15961543 PMCid:1166626
Guidotti A, Auta J, Davis JM, Di-Giorgi-Gerevini V, et al. (2000). Decrease in reelin and glutamic acid decarboxylase67 (GAD67) expression in schizophrenia and bipolar disorder: a postmortem brain study. Arch. Gen. Psychiatry 57: 1061-1069.
http://dx.doi.org/10.1001/archpsyc.57.11.1061
PMid:11074872
Hadj-Sahraoui N, Frederic F, Delhaye-Bouchaud N and Mariani J (1996). Gender effect on Purkinje cell loss in the cerebellum of the heterozygous reeler mouse. J. Neurogenet. 11: 45-58.
http://dx.doi.org/10.3109/01677069609107062
PMid:10876649
Herz J and Chen Y (2006). Reelin, lipoprotein receptors and synaptic plasticity. Nat. Rev. Neurosci. 7: 850-859.
http://dx.doi.org/10.1038/nrn2009
PMid:17053810
Jossin Y, Ignatova N, Hiesberger T, Herz J, et al. (2004). The central fragment of Reelin, generated by proteolytic processing in vivo, is critical to its function during cortical plate development. J. Neurosci. 24: 514-521.
http://dx.doi.org/10.1523/JNEUROSCI.3408-03.2004
PMid:14724251
Lander E and Kruglyak L (1995). Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11: 241-247.
http://dx.doi.org/10.1038/ng1195-241
PMid:7581446
Lichtenstein P, Yip BH, Bjork C, Pawitan Y, et al. (2009). Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study. Lancet 373: 234-239.
http://dx.doi.org/10.1016/S0140-6736(09)60072-6
Liu W, Pappas GD and Carter CS (2005). Oxytocin receptors in brain cortical regions are reduced in haploinsufficient (+/-) reeler mice. Neurol. Res. 27: 339-345.
http://dx.doi.org/10.1179/016164105X35602
PMid:15949229
McGuffin P, Rijsdijk F, Andrew M, Sham P, et al. (2003). The heritability of bipolar affective disorder and the genetic relationship to unipolar depression. Arch. Gen. Psychiatry 60: 497-502.
http://dx.doi.org/10.1001/archpsyc.60.5.497
PMid:12742871
Mill J, Tang T, Kaminsky Z, Khare T, et al. (2008). Epigenomic profiling reveals DNA-methylation changes associated with major psychosis. Am. J. Hum. Genet. 82: 696-711.
http://dx.doi.org/10.1016/j.ajhg.2008.01.008
PMid:18319075 PMCid:2427301
Moller HJ (2003). Bipolar disorder and schizophrenia: distinct illnesses or a continuum? J. Clin. Psychiatry 64 (Suppl 6): 23-27.
Moskvina V, Craddock N, Holmans P, Nikolov I, et al. (2009).Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. Mol. Psychiatry 14:252-260.
http://dx.doi.org/10.1038/mp.2008.133
PMid:19065143
Murray RM, Sham P, van Os J, Zanelli J, et al. (2004). A developmental model for similarities and dissimilarities between schizophrenia and bipolar disorder. Schizophr. Res. 71: 405-416.
http://dx.doi.org/10.1016/j.schres.2004.03.002
PMid:15474912
Need AC, Ge D, Weale ME, Maia J, et al. (2009). A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet. 5: e1000373.
http://dx.doi.org/10.1371/journal.pgen.1000373
PMid:19197363 PMCid:2631150
Quattrocchi CC, Wannenes F, Persico AM, Ciafre SA, et al. (2002). Reelin is a serine protease of the extracellular matrix. J. Biol. Chem. 277: 303-309.
http://dx.doi.org/10.1074/jbc.M106996200
PMid:11689558
Roglio I, Bianchi R, Gotti S, Scurati S, et al. (2008). Neuroprotective effects of dihydroprogesterone and progesterone in an experimental model of nerve crush injury. Neuroscience 155: 673-685.
http://dx.doi.org/10.1016/j.neuroscience.2008.06.034
PMid:18625290
Royaux I, Lambert de RC, DâArcangelo G, Demirov D, et al. (1997). Genomic organization of the mouse reelin gene. Genomics 46: 240-250.
http://dx.doi.org/10.1006/geno.1997.4983
PMid:9417911
Shi YY and He L (2005). SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 15: 97-98.
http://dx.doi.org/10.1038/sj.cr.7290272
PMid:15740637
Shifman S, Johannesson M, Bronstein M, Chen SX, et al. (2008). Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women. PLoS Genet. 4: e28.
http://dx.doi.org/10.1371/journal.pgen.0040028
PMid:18282107 PMCid:2242812
Tochigi M, Iwamoto K, Bundo M, Komori A, et al. (2008). Methylation status of the reelin promoter region in the brain of schizophrenic patients. Biol. Psychiatry 63: 530-533.
http://dx.doi.org/10.1016/j.biopsych.2007.07.003
PMid:17870056
Tsuang MT, Taylor L and Faraone SV (2004). An overview of the genetics of psychotic mood disorders. J. Psychiatr. Res. 38: 3-15.
http://dx.doi.org/10.1016/S0022-3956(03)00096-7
van Os J, Gilvarry C, Bale R, van Horn E, et al. (1999). A comparison of the utility of dimensional and categorical representations of psychosis. UK700 Group. Psychol. Med. 29: 595-606.
http://dx.doi.org/10.1017/S0033291798008162
PMid:10405080
Veldic M, Kadriu B, Maloku E, Agis-Balboa RC, et al. (2007). Epigenetic mechanisms expressed in basal ganglia GABAergic neurons differentiate schizophrenia from bipolar disorder. Schizophr. Res. 91: 51-61.
http://dx.doi.org/10.1016/j.schres.2006.11.029
PMid:17270400 PMCid:1876737
Wedenoja J, Loukola A, Tuulio-Henriksson A, Paunio T, et al. (2008). Replication of linkage on chromosome 7q22 and association of the regional Reelin gene with working memory in schizophrenia families. Mol. Psychiatry 13: 673-684.
http://dx.doi.org/10.1038/sj.mp.4002047
PMid:17684500
Yasui N, Nogi T, Kitao T, Nakano Y, et al. (2007). Structure of a receptor-binding fragment of reelin and mutational analysis reveal a recognition mechanism similar to endocytic receptors. Proc. Natl. Acad. Sci. U. S. A. 104: 9988-9993.
http://dx.doi.org/10.1073/pnas.0700438104
PMid:17548821 PMCid:1891246
“Polymorphisms of three new microsatellite sites of the dystrophin gene”, vol. 10, pp. 744-751, 2011.
, Ambrosio CE, Fadel L, Gaiad TP, Martins DS, et al. (2009). Identification of three distinguishable phenotypes in Golden Retriever muscular dystrophy. Genet. Mol. Res. 8: 389-396.
doi:10.4238/vol8-2gmr581
Banks GB and Chamberlain JS (2008). The value of mammalian models for Duchenne muscular dystrophy in developing therapeutic strategies. Curr. Top. Dev. Biol. 84: 431-453.
doi:10.1016/S0070-2153(08)00609-1
Basak J, Dasgupta UB, Banerjee TK, Senapati AK, et al. (2006). Analysis of dystrophin gene deletions by multiplex PCR in eastern India. Neurol. India 54: 310-311.
doi:10.4103/0028-3886.27164
Davies KE (1997). Challenges in Duchenne muscular dystrophy. Neuromuscul. Disord. 7: 482-486.
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Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, et al. (1989). Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet. 45: 835-847.
Dubowitz V (2006). Enigmatic conflict of clinical and molecular diagnosis in Duchenne/Becker muscular dystrophy. Neuromuscul. Disord. 16: 865-866.
doi:10.1016/j.nmd.2006.09.003
Gao Y and Li SB (2008). Effects of sample size on the observed number of allele of 9 STR loci with various genetic data. Yi Chuan 30: 313-320.
doi:10.3724/SP.J.1005.2008.00313
Giliberto F, Ferreiro V, Dalamon V, Surace E, et al. (2003). Direct deletion analysis in two Duchenne muscular dystrophy symptomatic females using polymorphic dinucleotide (CA)n loci within the dystrophin gene. J. Biochem. Mol. Biol. 36: 179-184.
doi:10.5483/BMBRep.2003.36.2.179
Kimmel M and Chakraborty R (1996). Measures of variation at DNA repeat loci under a general stepwise mutation model. Theor. Popul. Biol. 50: 345-367.
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Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, et al. (1987). Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517.
doi:10.1016/0092-8674(87)90504-6
Lai KK, Lo IF, Tong TM, Cheng LY, et al. (2006). Detecting exon deletions and duplications of the DMD gene using multiplex ligation-dependent probe amplification (MLPA). Clin. Biochem. 39: 367-372.
doi:10.1016/j.clinbiochem.2005.11.019
Lai PS, Takeshima Y, Adachi K, Van Tran K, et al. (2002). Comparative study on deletions of the dystrophin gene in three Asian populations. J. Hum. Genet. 47: 552-555.
doi:10.1007/s100380200084
Li Q and Wan JM (2005). SSRHunter: development of a local searching software for SSR sites. Yi Chuan 27: 808-810.
Melis MA, Cau M, Muntoni F, Mateddu A, et al. (1998). Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. Eur. J. Paediatr. Neurol. 2: 255-261.
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Mendell JR, Buzin CH, Feng J, Yan J, et al. (2001). Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 57: 645-650.
Ribeiro Rodrigues EM, Leite FP, Hutz MH, Palha TJ, et al. (2008). A multiplex PCR for 11 X chromosome STR markers and population data from a Brazilian Amazon Region. Forensic Sci. Int. Genet. 2: 154-158.
doi:10.1016/j.fsigen.2007.10.179
Roberts RG, Gardner RJ and Bobrow M (1994). Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum. Mutat. 4: 1-11.
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Sewry CA (2010). Muscular dystrophies: an update on pathology and diagnosis. Acta Neuropathol. 120: 343-358.
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Sifringer M, Uhlenberg B, Lammel S, Hanke R, et al. (2004). Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy. Hum. Genet. 114: 149-156.
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Suminaga R, Takeshima Y, Adachi K, Yagi M, et al. (2002). A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5. J. Hum. Genet. 47: 196-201.
doi:10.1007/s100380200023
Walmsley GL, Arechavala-Gomeza V, Fernandez-Fuente M, Burke MM, et al. (2010). A Duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient Cavalier King Charles Spaniels is amenable to exon 51 skipping. PLoS One 5: e8647.
doi:10.1371/journal.pone.0008647
Yan J and Hou YP (2004). Exploring Novel STR Loci on Human Chromosome 21 for Forensic and Medical Genetics. Doctoral thesis, Sichuan University, Chengdu.
“A study on the relationship between TCTA tetranucleotide polymorphism of the HPRT gene and primary hyperuricemia”, vol. 10, pp. 3121-3126, 2011.
, Fujimori S (1996). PRPP synthetase superactivity. Nihon Rinsho 54: 3309-3314.
PMid:8976111
Hong YS, Lee MJ, Kim KH, Lee SH, et al. (2004). The C677 mutation in methylene tetrahydrofolate reductase gene: correlation with uric acid and cardiovascular risk factors in elderly Korean men. J. Korean Med. Sci. 19: 209-213.
http://dx.doi.org/10.3346/jkms.2004.19.2.209
PMid:15082892 PMCid:2822300
Li YC, Korol AB, Fahima T and Nevo E (2004). Microsatellites within genes: structure, function, and evolution. Mol. Biol. Evol. 21: 991-1007.
http://dx.doi.org/10.1093/molbev/msh073
PMid:14963101
Mygind T, Birkelund S, Birkebaek NH, Ostergaard L, et al. (2002). Determination of PCR efficiency in chelex-100 purified clinical samples and comparison of real-time quantitative PCR and conventional PCR for detection of Chlamydia pneumoniae. BMC Microbiol. 2: 17.
http://dx.doi.org/10.1186/1471-2180-2-17
PMid:12106506 PMCid:117782
Nyhan WL (2005). Inherited hyperuricemic disorders. Contrib. Nephrol. 147: 22-34.
PMid:15604603
Reginato AM and Olsen BR (2007). Genetics and experimental models of crystal-induced arthritis. Lessons learned from mice and men: is it crystal clear? Curr. Opin. Rheumatol. 19: 134-145.
http://dx.doi.org/10.1097/BOR.0b013e328040c00b
PMid:17278928
Srivastava T, O’Neill JP, Dasouki M and Simckes AM (2002). Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene. Am. J. Med. Genet. 108: 219-222.
http://dx.doi.org/10.1002/ajmg.10217
PMid:11891689
Valdes AM, Slatkin M and Freimer NB (1993). Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics 133: 737-749.
PMid:8454213 PMCid:1205356
Yamada Y, Nomura N, Yamada K and Wakamatsu N (2007). Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. Mol. Genet. Metab. 90: 70-76.
http://dx.doi.org/10.1016/j.ymgme.2006.08.013
PMid:17027311
Yamamoto T, Moriwaki Y and Takahashi S (2005). Effect of ethanol on metabolism of purine bases (hypoxanthine, xanthine, and uric acid). Clin. Chim. Acta 356: 35-57.
http://dx.doi.org/10.1016/j.cccn.2005.01.024
PMid:15936302