Koh ichiro Yoshiura

Summary

Affiliation: Nagasaki University
Country: Japan

Publications

  1. doi request reprint Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia
    Shinji Ono
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan
    Twin Res Hum Genet 13:455-60. 2010
  2. ncbi request reprint Colocalization of doublecortin with the microtubules: an ex vivo colocalization study of mutant doublecortin
    K Yoshiura
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
    J Neurobiol 43:132-9. 2000
  3. ncbi request reprint A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
    Shinji Kondoh
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto, Japan
    J Hum Genet 47:136-9. 2002
  4. ncbi request reprint A SNP in the ABCC11 gene is the determinant of human earwax type
    Koh ichiro Yoshiura
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Nat Genet 38:324-30. 2006
  5. ncbi request reprint Phenotype-genotype correlation in two patients with 12q proximal deletion
    Noriko Miyake
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1 12 4 Sakamoto, Nagasaki 852 8523, Japan
    J Hum Genet 49:282-4. 2004
  6. ncbi request reprint Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses
    Shoko Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 140:1737-43. 2006
  7. ncbi request reprint Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion
    Naohiro Kurotaki
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Hum Mutat 22:378-87. 2003
  8. ncbi request reprint The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain
    Tomohiko Kayashima
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Hum Genet 112:220-6. 2003
  9. ncbi request reprint Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
    Shoko Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 7 1, 852 8501, Nagasaki, Japan
    J Hum Genet 51:412-7. 2006
  10. doi request reprint Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
    Shinji Ono
    Department of Psychiatry, Nagasaki University Hospital, Sakamoto 1 7 1, Nagasaki, Japan
    J Hum Genet 57:338-41. 2012

Detail Information

Publications74

  1. doi request reprint Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia
    Shinji Ono
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan
    Twin Res Hum Genet 13:455-60. 2010
    ..Schizophrenia caused by strong genetics factors including copy number alteration or gene mutation may be a small subset of the clinical population...
  2. ncbi request reprint Colocalization of doublecortin with the microtubules: an ex vivo colocalization study of mutant doublecortin
    K Yoshiura
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
    J Neurobiol 43:132-9. 2000
    ..The results of our study may suggest that the cytoskeleton involving DCX mediates the neuronal migration during brain development...
  3. ncbi request reprint A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
    Shinji Kondoh
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto, Japan
    J Hum Genet 47:136-9. 2002
    ..NM 015909), which is located at least 50kb centromeric to the breakpoint and is not likely to be related to MIP. MIPOL1 is a good candidate gene for the MIP type of anomaly...
  4. ncbi request reprint A SNP in the ABCC11 gene is the determinant of human earwax type
    Koh ichiro Yoshiura
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Nat Genet 38:324-30. 2006
    ..These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G --> A SNP is the first example of DNA polymorphism determining a visible genetic trait...
  5. ncbi request reprint Phenotype-genotype correlation in two patients with 12q proximal deletion
    Noriko Miyake
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1 12 4 Sakamoto, Nagasaki 852 8523, Japan
    J Hum Genet 49:282-4. 2004
    ..Regarding unique symptoms in each case, congenital fibrosis of the extraocular muscles found only in Case 1 may be caused by KIF21A deletion and hearing loss and cleft palate in Case 2 by COL2A1 defect...
  6. ncbi request reprint Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses
    Shoko Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 140:1737-43. 2006
    ..This is the first case of FIF showing different methylation patterns between a host infant and fetiform mass...
  7. ncbi request reprint Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion
    Naohiro Kurotaki
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Hum Mutat 22:378-87. 2003
    ..Such LCRs seem to be present in different populations. Thus the different frequency of microdeletions between Japanese and non-Japanese cases in our study may have been caused by patient-selection bias...
  8. ncbi request reprint The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain
    Tomohiko Kayashima
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Hum Genet 112:220-6. 2003
    ..However, analysis of ten SRS patients revealed no mutations in CPA4...
  9. ncbi request reprint Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
    Shoko Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 7 1, 852 8501, Nagasaki, Japan
    J Hum Genet 51:412-7. 2006
    ....
  10. doi request reprint Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
    Shinji Ono
    Department of Psychiatry, Nagasaki University Hospital, Sakamoto 1 7 1, Nagasaki, Japan
    J Hum Genet 57:338-41. 2012
    ..Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism...
  11. ncbi request reprint Initial viral load in cases of single human papillomavirus 16 or 52 persistent infection is associated with progression of later cytopathological findings in the uterine cervix
    Daisuke Hamaguchi
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Med Virol 85:2093-100. 2013
    ..103 in the non-progression group (P = 0.001). HPV 52 and 16 DNA loads assessed by quantitative real-time methods may be useful short-term markers for identifying women at high risk for progression of cervical cytological pathology...
  12. ncbi request reprint Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23
    Hiroki Kawara
    Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    Am J Med Genet A 140:373-7. 2006
    ..2-p23. This, together with previous studies in the literature, narrowed the shortest region of overlap (SRO) for the syndrome to a 4.7-Mb interval. Candidate genes for trigonocephaly, mental retardation, and brown hair are discussed...
  13. ncbi request reprint Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family
    Kazuki Komatsu
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto, Nagasaki, Japan
    J Hum Genet 47:395-9. 2002
    ..It is likely that a genotype-phenotype correlation is also applicable in the case of DFNA6/14/38...
  14. doi request reprint Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders
    Kiyonori Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Hum Genet 56:296-9. 2011
    ..This procedure could avoid unnecessary CVS in female fetuses...
  15. ncbi request reprint Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus
    Tomohiko Kayashima
    Department of Human Genetics, Nagasaki University, Japan
    Am J Med Genet 111:38-42. 2002
    ....
  16. doi request reprint Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy
    Ai Higashijima
    Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Prenat Diagn 33:214-22. 2013
    ..The aim of this study was to characterize placenta-specific microRNAs in fetal growth restriction (FGR) pregnancy...
  17. doi request reprint Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma
    Ozora Tsukamoto
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Gynecol Oncol 132:715-21. 2014
    ..This study aimed to identify a set of endometrioid endometrial carcinoma EEC-associated microRNAs (miRNAs) in tissue and plasma, and evaluate their clinical significance...
  18. doi request reprint No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome
    Hideo Kuniba
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 146:1893-6. 2008
  19. doi request reprint A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12
    Masayoshi Tsuda
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan
    J Hum Genet 55:124-6. 2010
    ..A maximum LOD score of 2.408 was obtained at 2p24.2-24.1 and 2p21-p12, assuming autosomal dominant inheritance. Our results suggest that either of these regions is responsible for this type of CSP...
  20. ncbi request reprint LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
    Takeshi Mizuguchi
    Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
    J Hum Genet 49:80-6. 2004
    ..2220C>T (kappa2=6.737, p=0.009). These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis...
  21. doi request reprint Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology
    Kentaro Yamasaki
    Department of Obstetrics and Gynecology, School of Medicine, Nagasaki University, Sakamoto, Japan
    J Obstet Gynaecol Res 37:1666-70. 2011
    ..To investigate the pre-vaccination epidemiology of genital human papillomavirus (HPV) infections and genotypes in women with abnormal cytology in Nagasaki, Japan...
  22. ncbi request reprint A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland
    Kiyonori Miura
    Department of Obstetrics and Gynaecology, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1 Sakamoto, Nagasaki 852 8501, Japan
    Hum Genet 121:631-3. 2007
    ..0002), and the measurable colostrum volume in dry-type women was significantly smaller than in wet-type women (P=0.0341)...
  23. doi request reprint Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer
    Shuhei Abe
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Hum Genet 58:250-3. 2013
    ..33-0.74). We found copy number variation of DEFB4 was a host genetic factor conferring susceptibility to cervical cancer. A lower DEFB4 copy number was associated with susceptibility to cervical cancer...
  24. pmc Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis
    Naohiro Kurotaki
    Department of Neuropsychiatry, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    PLoS ONE 6:e20589. 2011
    ..Analysis of patients whose parents are first cousins may provide new insights for the genetic analysis of psychiatric diseases...
  25. ncbi request reprint Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family
    Mitsuko Nakashima
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 12 4, Nagasaki, 852 8523, Japan
    J Hum Genet 53:34-41. 2008
    ..We thus performed mutation, Southern-blot and methylation analyses of ZFHX4 but could not find any disease-specific change in the family. Nevertheless, our data may support the localization of PTOS1...
  26. ncbi request reprint Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause
    Kiyonori Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 140:1827-33. 2006
    ..8/15 infants without CPM), although no statistically significant difference was obtained. The information obtained will be useful for perinatal care and genetic counseling for infants with IUGR and CPM...
  27. ncbi request reprint Clinical applications of plasma circulating mRNA analysis in cases of gestational trophoblastic disease
    Hideaki Masuzaki
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Clin Chem 51:1261-3. 2005
  28. doi request reprint The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma
    Kiyonori Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Prenat Diagn 30:849-61. 2010
    ..The purpose of this study is to investigate a possibility of overall assessment of cell-free (CF) placental mRNAs in maternal plasma...
  29. ncbi request reprint Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting
    Tomohiko Kayashima
    Department of Human Genetics, Nagasaki University, School of Medicine, Nagasaki 852 8523, Japan
    Genomics 81:644-7. 2003
    ..Furthermore, there was no differential methylation in the CpG island and no antisense transcripts of the gene. These findings suggest that the mouse Atp10a gene escapes genomic imprinting...
  30. ncbi request reprint Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome
    Kiyonori Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Prenat Diagn 34:345-9. 2014
    ..This study aimed to identify a set of predominantly placental (PP) mRNAs, which are associated with later-developing twin-to-twin transfusion syndrome (TTTS)...
  31. ncbi request reprint Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US
    Shuhei Abe
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Hum Genet 59:251-5. 2014
    ..094; 95% CI: 1.005-3.935). Therefore, the initial HPV-DNA genotype may be a potential predictive marker of later progression of cytological findings in the uterine cervix in cases of NILM or ASC-US...
  32. ncbi request reprint Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies
    Masayo Nomura
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1 12 4 Sakamoto, Nagasaki 852 8523, Japan
    J Hum Genet 50:483-9. 2005
    ..It is thus less likely that autoantibody and/or a local immune reaction in their skin has a primary role in eosinophil infiltration in these patients...
  33. ncbi request reprint A syndactyly type IV locus maps to 7q36
    Daisuke Sato
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, and Women and Children s Hospital of Hunan Province, Changsha, China
    J Hum Genet 52:561-4. 2007
    ..Analysis of three candidate genes, LMBR1, SHH and ZRS, failed to identify any pathogenic mutations. Our gene mapping may give a clue to identify the putative SD4 gene and provide a better understanding of normal human limb development...
  34. doi request reprint A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1
    Kiyonori Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1 Sakamoto, Nagasaki, Japan
    Hum Reprod 25:1076-80. 2010
    ..Therefore, this is the first case of KS carrying a de novo missense mutation in FGFR1 exon 8A, suggesting that isoform FGFR1-IIIb, as well as isoform FGFR1-IIIc, plays a crucial role in the pathogenesis of KS...
  35. doi request reprint Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome
    Taichi Takahata
    Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    J Hum Genet 55:142-6. 2010
    ..It is possible that some reported cases of MSS without base alterations in the SIL1 gene are caused by deletions rather than locus heterogeneity...
  36. doi request reprint Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
    Hideo Kuniba
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Hum Genet 54:304-9. 2009
    ..As various platforms on oligonucleotide arrays have been developed, higher resolution platforms will need to be applied to search tiny genomic rearrangements in patients with KS...
  37. doi request reprint Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array
    Masahiro Oikawa
    Departments of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Eur J Med Genet 53:244-9. 2010
    ..This is the first experience of adoption of fingernail DNA to genome-wide, high-density SNP microarray analysis, showing candidate brain AVM susceptible regions...
  38. doi request reprint Identification of pregnancy-associated microRNAs in maternal plasma
    Kiyonori Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1 Sakamoto, Nagasaki 852 8501, Japan
    Clin Chem 56:1767-71. 2010
    ..Our understanding of these novel molecules is still limited, however. The aim of this study was to isolate and characterize pregnancy-associated miRNAs in maternal plasma...
  39. ncbi request reprint A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region
    Daisuke Sato
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 146:124-7. 2008
  40. pmc A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene
    Motoi Nakano
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    BMC Genet 10:42. 2009
    ..AO was defined here as a clinical condition of individuals with a deep anxiety regarding axillary odor and had undergone the removal of bilateral axillary apocrine glands...
  41. ncbi request reprint Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
    Christophe K Mapendano
    Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    J Hum Genet 51:236-43. 2006
    ..These findings, together with previous data, suggest that the IC transcript may be associated with the establishment of PWS-IC methylation on the maternal chromosome as an AS-IC cis-acting element...
  42. ncbi request reprint Genome-wide association study of HPV-associated cervical cancer in Japanese women
    Kiyonori Miura
    Department of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    J Med Virol 86:1153-8. 2014
    ..J. Med. Virol. 86:1153-1158, 2014. © 2014 Wiley Periodicals, Inc. ..
  43. pmc Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia
    Kazuya Kashiyama
    Department of Plastic and Reconstructive Surgery, Graduate School of Biomedical Sciences, Nagasaki University, 1 7 1 Sakamoto, Nagasaki 852 8501, Japan
    Am J Hum Genet 92:807-19. 2013
    ..Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF...
  44. doi request reprint Epidemiology of human papillomavirus genotypes in pregnant Japanese women
    Kentaro Yamasaki
    Department of Obstetrics and Gynecology, School of Medicine, Nagasaki University, Nagasaki, Japan
    J Hum Genet 56:313-5. 2011
    ..Infection with multiple HPV genotypes was observed more frequently in the first trimester of pregnancy and the pattern of infection changed significantly depending on pregnancy stage...
  45. ncbi request reprint The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus
    Junichi Kamimura
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Hum Genet 49:360-5. 2004
    ..The disruption of IHPK1 or another predisposing gene affected by position effect of the translocation may explain the T2DM phenotype at least in this family. Alternatively, the IHPK1 disruption in the family is a chance association...
  46. ncbi request reprint Congenital arhinia: molecular-genetic analysis of five patients
    Daisuke Sato
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 143:546-52. 2007
    ..Although our study failed to identify the putative arhinia gene, the data may become a clue to unravel the underlying mechanism of arhinia...
  47. ncbi request reprint [Positional cloning of disease gene]
    Koh ichiro Yoshiura
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences
    Nihon Rinsho 63:421-6. 2005
  48. doi request reprint A predictive factor of the quality of microarray comparative genomic hybridization analysis for formalin-fixed paraffin-embedded archival tissue
    Kenjiro Nakao
    Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Diagn Mol Pathol 22:174-80. 2013
    ..The double-stranded DNA ratio can be used to predict the performance of aCGH analysis for DNA from FFPE samples. Using this quality metric, valuable FFPE archival tissue samples can be utilized for aCGH analysis. ..
  49. doi request reprint Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations
    Kensaku Sasaki
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Gene 512:267-74. 2013
    ..Based on the autosomal chromosome pairs investigated, we estimate the rate of segmental UPD to be one per 3806 chromosome pairs (0.026%). These data imply the possibility of hidden segmental UPD in normal individuals...
  50. pmc Copy number alteration and uniparental disomy analysis categorizes Japanese papillary thyroid carcinomas into distinct groups
    Michiko Matsuse
    Department of Radiation Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Nagasaki, Japan
    PLoS ONE 7:e36063. 2012
    ..These data suggest that Japanese PTCs may be classified into three distinct groups: CNA(+), UPD(+), and no chromosomal aberrations. BRAF(V600E) mutational status did not correlate with any parameters of chromosomal defects...
  51. ncbi request reprint Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families
    Taeko Kikuchi
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 12 4, Nagasaki, 852 8523, Japan
    J Hum Genet 52:334-41. 2007
    ..Thus, one of the two genes, SCNN1G and ITGAL, could be causative for PKC, but we were not able to find any other mutations that explain the PKC phenotype...
  52. ncbi request reprint Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?
    Mohsen Ghadami
    Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
    Am J Med Genet A 127:307-9. 2004
    ....
  53. ncbi request reprint Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
    Tomohiko Kayashima
    Department of Human Genetics Nagasaki University School of Medicine, Japan
    J Hum Genet 47:77-9. 2002
    ..Thus, Nonaka myopathy is the third disease known to be caused by GNE mutations...
  54. ncbi request reprint A Japanese patient with a mild Lenz-Majewski syndrome
    Sumito Dateki
    Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1, Sakamoto, Nagasaki 852 8501, Japan
    J Hum Genet 52:686-9. 2007
    ..The present case may be considered to fall in the mildest end in the phenotypic continuum of Lenz-Majewski syndrome, suggesting that the clinical spectrum of the disorder may be broader than currently thought...
  55. pmc The Ruby UCSC API: accessing the UCSC genome database using Ruby
    Hiroyuki Mishima
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1 12 4 Sakamoto, Nagasaki, Nagasaki, 852 8523, Japan
    BMC Bioinformatics 13:240. 2012
    ..A simple application programming interface (API) in a scripting language aimed at the biologist was however not yet available. Here, we present the Ruby UCSC API, a library to access the UCSC genome database using Ruby...
  56. doi request reprint Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair
    Yuka Nakazawa
    Nagasaki University Research Centre for Genomic Instability and Carcinogenesis, Nagasaki, Japan
    Nat Genet 44:586-92. 2012
    ..Our findings provide mechanistic insights into the processing of stalled RNA polymerase and explain the different clinical features across these TC-NER–deficient disorders...
  57. pmc Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridization
    Masahiro Oikawa
    Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Radiat Oncol 6:168. 2011
    ....
  58. doi request reprint Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomy
    Kiyonori Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Prenat Diagn 28:805-9. 2008
    ..The purpose of this study was to investigate whether cell-free placental mRNA levels have the potential to predict a placenta previa resulting in hysterectomy...
  59. ncbi request reprint The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting
    Takahiro Yamada
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Gene 288:57-63. 2002
    ..The fact that COPG2 and TSGA14, both neighbors of MEST, escape genomic imprinting suggests that the 7q32 imprinted region may be small and not similar to other imprinted domains, such as those at 15q11-13 and 11p15.5...
  60. doi request reprint Clinical and molecular analysis of synchronous double lung cancers
    Junichi Arai
    Division of Surgical Oncology, Department of Translational Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1 Sakamoto, Nagasaki, Nagasaki 852 8501, Japan
    Lung Cancer 77:281-7. 2012
    ..To validate the consistency among the pathological assessments and clarify the clinical differences between double primary lesions and metastasis, we also examined synchronous double lung cancer clinical data...
  61. ncbi request reprint Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia
    Hiroshi Iwanaga
    First Department of Internal Medicine, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto, Nagasaki, Japan
    Am J Med Genet A 133:13-7. 2005
    ....
  62. pmc Heterozygous TGFBR2 mutations in Marfan syndrome
    Takeshi Mizuguchi
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Nat Genet 36:855-60. 2004
    ..These results show that heterozygous mutations in TGFBR2, a putative tumor-suppressor gene implicated in several malignancies, are also associated with inherited connective-tissue disorders...
  63. pmc Agile parallel bioinformatics workflow management using Pwrake
    Hiroyuki Mishima
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1 12 4 Sakamoto, Nagasaki, Nagasaki, Japan
    BMC Res Notes 4:331. 2011
    ..abstract:..
  64. ncbi request reprint Quantitative structure--activity relationship analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1 (P-glycoprotein/MDR1)
    Aki Sakurai
    Department of Biomolecular Engineering, Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Yokohama, Japan
    Biochemistry 46:7678-93. 2007
    ....
  65. ncbi request reprint A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway
    Yukio Watanabe
    CREST, Japan Science and Technology Corporation, Kawaguchi, Japan
    J Hum Genet 47:478-83. 2002
    ..We also estimated allele frequencies of these DNA polymorphisms among 48 Japanese individuals. Our data will provide a useful resource for the study of disease susceptibility...
  66. ncbi request reprint Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome
    Noriko Matsuzawa
    Department of Oral and Maxillofacial Surgery, Aichi Gakuin University School of Dentistry, Japan
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 98:414-7. 2004
    ..To our knowledge, this is the first report of IRF6 mutations observed in Japanese VWS patients...
  67. ncbi request reprint A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate
    Akira Watanabe
    The Second Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Chiba, Japan
    Cleft Palate Craniofac J 43:310-6. 2006
    ..Both the Ryk-deficient mouse and Ephb2/Ephb3 (genes for interaction molecules with RYK) double-mutant mouse show cleft palate...
  68. ncbi request reprint Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
    Theresa M Zucchero
    University of Iowa, Iowa City 52242, USA
    N Engl J Med 351:769-80. 2004
    ..We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene...
  69. pmc CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 81:596-606. 2007
    ....
  70. ncbi request reprint Labor increases maternal DNA contamination in cord blood
    Hideaki Masuzaki
    Clin Chem 50:1709-11. 2004
  71. ncbi request reprint A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2
    Desheng Liang
    National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha, China
    Am J Med Genet A 140:238-44. 2006
    ..Karyotypes of the propositus and his son were thus inv(12)(pter-->p11.22::q14.1-->p12.3::q14.1-->qter). This is the first report of "pure" proximal 12p-trisomy including p12.3-p11.22 region...
  72. ncbi request reprint Primary palmar hyperhidrosis locus maps to 14q11.2-q13
    Ikuyo Higashimoto
    Department of Anesthesiology, Faculty of Medicine, Saga University, Nabeshima, Saga, Japan
    Am J Med Genet A 140:567-72. 2006
    ..This is the first report of systemic mapping of the PPH locus...
  73. ncbi request reprint PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses
    Eisaburo Ichikawa
    Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Chiba, Japan
    J Hum Genet 51:38-46. 2006
    ..0016. Population-based haplotyping revealed that the association was most significant for haplotype "A/A" consisting of IVS1 + 5321 and IVS1 - 1572; TDT also gave a P-value of 0.0252 in this haplotype...
  74. doi request reprint Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA
    Mitsuko Nakashima
    Clin Chem 54:1746-8. 2008