Norio Niikawa

Summary

Affiliation: Nagasaki University
Country: Japan

Publications

  1. ncbi request reprint Molecular basis of Sotos syndrome
    Norio Niikawa
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Horm Res 62:60-5. 2004
  2. ncbi request reprint Molecular characterization of inv dup del(8p): analysis of five cases
    Osamu Shimokawa
    Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    Am J Med Genet A 128:133-7. 2004
  3. 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
  4. ncbi request reprint On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS
    Noriko Miyake
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 128:170-2. 2004
  5. ncbi request reprint BAC array CGH reveals genomic aberrations in idiopathic mental retardation
    Noriko Miyake
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 140:205-11. 2006
  6. 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
  7. pmc Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion
    Remco Visser
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Hum Genet 76:52-67. 2005
  8. 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
  9. ncbi request reprint Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
    Osamu Shimokawa
    Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    Am J Med Genet A 136:49-51. 2005
  10. ncbi request reprint Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene
    N Kurotaki
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
    Gene 279:197-204. 2001

Collaborators

Detail Information

Publications127 found, 100 shown here

  1. ncbi request reprint Molecular basis of Sotos syndrome
    Norio Niikawa
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Horm Res 62:60-5. 2004
    ..The genomic structure around the deleted and flanking regions revealed the presence of two sets of low copy repeats through which the microdeletion in Sotos syndrome is mediated...
  2. ncbi request reprint Molecular characterization of inv dup del(8p): analysis of five cases
    Osamu Shimokawa
    Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    Am J Med Genet A 128:133-7. 2004
    ..2001: Am J Hum Genet 68:874-883]. The proposed mechanism of formation of inv dup del(8p) requires two independent events (a recombination within the loop and subsequent rescue), which may explain its rarity...
  3. 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...
  4. ncbi request reprint On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS
    Noriko Miyake
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 128:170-2. 2004
  5. ncbi request reprint BAC array CGH reveals genomic aberrations in idiopathic mental retardation
    Noriko Miyake
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 140:205-11. 2006
    ..The constructed array was shown to be an efficient tool for the detection of pathogenic genomic rearrangements in MR patients as well as copy number polymorphisms (CPNs)...
  6. 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...
  7. pmc Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion
    Remco Visser
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Hum Genet 76:52-67. 2005
    ..Segmental duplications of the primate genome play a major role in chromosomal evolution. Evolutionary study showed that the duplication of the SoS LCRs occurred 23.3-47.6 million years ago, before the divergence of Old World monkeys...
  8. 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
  9. ncbi request reprint Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
    Osamu Shimokawa
    Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    Am J Med Genet A 136:49-51. 2005
    ..1 interstitial deletion should have arisen through a different mechanism from that of inv dup del(8p) whose structural abnormality is always of maternal origin and accompanies heterozygous 8p23.1 polymorphic inversion in mother...
  10. ncbi request reprint Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene
    N Kurotaki
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
    Gene 279:197-204. 2001
    ..It remains to be investigated whether mutations of NSD1 lead to a specific phenotype in man...
  11. doi request reprint KDM6A point mutations cause Kabuki syndrome
    Noriko Miyake
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Hum Mutat 34:108-10. 2013
    ..In this study, we investigated KDM6A in 32 KS patients without an MLL2 mutation. We identified two nonsense mutations and one 3-bp deletion of KDM6A in three KS cases. This is the first report of KDM6A point mutations associated with KS...
  12. 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...
  13. ncbi request reprint Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome
    Yuki Kondoh
    Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    Am J Med Genet A 120:123-6. 2003
    ..Olfactory receptor gene clusters at 4p16.3 were ruled out as an intermediary of the duplication deletion process...
  14. 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...
  15. 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...
  16. 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...
  17. doi request reprint A locus for ophthalmo-acromelic syndrome mapped to 10p11.23
    Haruka Hamanoue
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 149:336-42. 2009
    ..Further families are needed to confirm this candidate locus...
  18. 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
  19. 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...
  20. 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
    ....
  21. 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...
  22. 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...
  23. 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...
  24. 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...
  25. 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...
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. ncbi request reprint Angelman syndrome caused by an identical familial 1,487-kb deletion
    Kanako Sato
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 143:98-101. 2007
  32. ncbi request reprint Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes
    Osamu Shimokawa
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 140:1931-5. 2006
    ..This left the 1.4-Mb 3p deletion as the only instance with submicroscopic imbalance detected, giving a frequency of 1 in 19 (5%) G-banding normal abortions...
  33. 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)...
  34. ncbi request reprint Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air
    Yoko Yamasaki
    Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki 852 8523, Japan
    Hum Mol Genet 14:2511-20. 2005
    ....
  35. ncbi request reprint Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23
    Hirobumi Sugawara
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
    Genomics 82:238-44. 2003
    ..We also investigated the frequency of the 4.7-Mb inversion in the general Japanese population and found that the allele frequency for the 8p23 inversion was estimated to be 27%...
  36. ncbi request reprint Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X
    Tomoko Ida
    Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    Am J Med Genet A 120:557-61. 2003
    ..Despite the presence of two active copies of the proteolipid protein 1 gene (PLP1), she did not show the symptoms of Pelizaeus-Merzbacher disease, a subset of which has been known to be caused by the duplication of PLP1...
  37. 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...
  38. 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...
  39. doi request reprint Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
    Takeshi Mizuguchi
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236 0004, Japan
    J Hum Genet 53:914-9. 2008
    ..It is noteworthy that 10% of patients with schizophrenia have (sub)microscopic chromosomal abnormalities, indicating that genome-wide copy number survey should be considered in genetic studies of schizophrenia...
  40. 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...
  41. 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
    ....
  42. ncbi request reprint Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype
    Remco Visser
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Hum Genet 51:15-20. 2006
    ..It therefore seems unlikely that such abnormalities of NSD1 are a major culprit in patients with phenotypical SoS. Additional methods are necessary for detection of other genetic or epigenetic causes of SoS...
  43. 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...
  44. 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...
  45. 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...
  46. doi request reprint MLL2 and KDM6A mutations in patients with Kabuki syndrome
    Noriko Miyake
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Am J Med Genet A 161:2234-43. 2013
    ..Short stature and postnatal growth retardation were observed in all individuals with KDM6A mutations, but in only half of the group with MLL2 mutations. © 2013 Wiley Periodicals, Inc. ..
  47. doi request reprint Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
    Yoshinori Tsurusaki
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Nat Genet 44:376-8. 2012
    ..Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B...
  48. ncbi request reprint A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
    Naoki Harada
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Hum Genet 49:440-4. 2004
    ..Possible candidate genes delineating specific phenotypes of the 9q34.3 terminal deletion syndrome are discussed...
  49. 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...
  50. 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
    ....
  51. ncbi request reprint Duplication of 8p23.2: a benign cytogenetic variant?
    Naoki Harada
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
    Am J Med Genet 111:285-8. 2002
    ..In view of these findings, it is most likely that the 8p23.2 duplication we described is a normal variant...
  52. 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...
  53. 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...
  54. ncbi request reprint Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization
    T Tamura
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Cytogenet Cell Genet 66:132-4. 1994
    ..Sequence analysis revealed that at least two of them had exon-like sequences and showed extensive homology to Pax-4 in the mouse. These two cosmid clones were mapped to human chromosome band 7q32 by fluorescence in situ hybridization...
  55. ncbi request reprint Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1
    H Soejima
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Hum Mutat 9:177-80. 1997
  56. ncbi request reprint [Cerebral gigantism]
    Norio Niikawa
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences
    Nihon Rinsho . 2006
  57. 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
  58. 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
  59. pmc A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
    A Okubo
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Med Genet 41:e97. 2004
  60. 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...
  61. ncbi request reprint NAT2 6A, a haplotype of the N-acetyltransferase 2 gene, is an important biomarker for risk of anti-tuberculosis drug-induced hepatotoxicity in Japanese patients with tuberculosis
    Norihide Higuchi
    Department of Pharmacotherapeutics, Nagasaki University Graduate School of Biomedical Sciences, 1 14 Bunkyo machi, Nagasaki 852 8521, Japan
    World J Gastroenterol 13:6003-8. 2007
    ..To investigate an association between N-acetyltransferase 2 (NAT2)-haplotypes/diplotypes and adverse effects in Japanese pulmonary tuberculosis patients...
  62. ncbi request reprint Haploinsufficiency of NSD1 causes Sotos syndrome
    Naohiro Kurotaki
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
    Nat Genet 30:365-6. 2002
    ..The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome...
  63. 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...
  64. ncbi request reprint Characterization of the promoter region, first ten exons and nine intron-exon boundaries of the DNA-dependent protein kinase catalytic subunit gene, DNA-PKcs (XRCC7)
    M Fujimoto
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    DNA Res 4:151-4. 1997
    ..The cosmids isolated and the primer sets designed in the present study are useful for mutation analysis in patients with a SCID phenotype...
  65. ncbi request reprint Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet
    N Matsumoto
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Hum Genet 99:450-3. 1997
    ..In this study, we identified a yeast artificial chromosome clone spanning a translocation breakpoint at 14q13, and the breakpoint was confirmed to be located between two loci, AFM200ZH4 and D14S306, within a genetic distance of 0.6 cM...
  66. ncbi request reprint The human HCLS1 gene maps to chromosome 3q13 by fluorescence in situ hybridization
    M Egashira
    Human Genetics, Nagasaki University School of Medicine, Japan
    Cytogenet Cell Genet 72:175-6. 1996
    ..Fluorescence in situ hybridization using a 2.0-kb cDNA and an 8.0-kb genomic DNA clone of HCLS1 as probes revealed that the gene maps to 3q13...
  67. ncbi request reprint Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus
    Y Jinno
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Hum Mol Genet 5:1155-61. 1996
    ..These findings could suggest a role for secondary DNA structure in genomic imprinting across the species, and they also present a puzzling aspect of the evolution of the H19 regulatory region in human and mouse...
  68. pmc Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions
    R Visser
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    J Med Genet 42:e66. 2005
    ..It is caused by haploinsuffiency of NSD1 at 5q35. There is a 3.0 kb recombination hotspot in which the breakpoints of around 80% of SoS patients with a common deletion can be mapped...
  69. ncbi request reprint Visible integration of the adenosine deaminase (ADA) gene into the recipient genome after gene therapy
    M Egashira
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Am J Med Genet 75:314-7. 1998
    ..Our results indicate that the two-color FISH system can be used as a potential aid to monitor the efficiency of the ADA gene therapy...
  70. ncbi request reprint A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient
    N Matsumoto
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Genomics 45:11-6. 1997
    ..This BAC/PAC contig with STSs is useful for further genomic sequencing, for construction of a transcription map, and for the isolation of the putative gene for mirror-image polydactyly...
  71. ncbi request reprint Genomic discordance between monozygotic twins discordant for schizophrenia
    T Tsujita
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Am J Psychiatry 155:422-4. 1998
    ..Genomic DNA of monozygotic twins discordant for schizophrenia was analyzed to determine whether their genomes were truly identical...
  72. ncbi request reprint Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier
    K Yamada
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
    Am J Med Genet 100:52-5. 2001
    ..The unilateral blindness in the female carrier may have been due to non-random X-inactivation...
  73. ncbi request reprint Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization
    M Ghadami
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
    Am J Med Genet 94:433-7. 2000
    ....
  74. ncbi request reprint Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
    A Kinoshita
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
    Nat Genet 26:19-20. 2000
    ..1-q13.3, which two other groups confirmed. As the human transforming growth factor-1 gene (TGFB1) is located within this interval, we considered it a candidate gene for CED...
  75. ncbi request reprint An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12
    K Yamada
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Eur J Hum Genet 8:535-9. 2000
    ..The mapping of the CPP3 locus to 20p12-q12 not only expands our understanding of the genetic heterogeneity in autosomal dominant posterior polar cataracts but also is a clue for the positional cloning of the disease gene...
  76. 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...
  77. ncbi request reprint Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family
    K Yamada
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Am J Ophthalmol 129:159-65. 2000
    ....
  78. pmc Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3
    M Ghadami
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki 852 8523, Japan
    Am J Hum Genet 66:143-7. 2000
    ..1-q13.3. These findings, together with a genetic distance among the marker loci, indicate that the CED locus can be assigned to a 15.1-cM segment between D19S881 and D19S606...
  79. pmc Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
    H A Tomita
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki 852 8523, Japan e mail address
    Am J Hum Genet 65:1688-97. 1999
    ....
  80. ncbi request reprint Identification, characterization and mapping of the human ZIS (zinc-finger, splicing) gene
    M Nakano
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki, Japan
    Gene 225:59-65. 1998
    ..Furthermore, the expression patterns of the two genes in tissues are similar each other. Thus, the human ZIS may act as a transcriptional factor to regulate transcription and/or splicing, as does the rat Zis...
  81. ncbi request reprint No parental origin bias for the rearranged chromosomes in myeloid leukemias associated with t(9;22), t(8;21) and t(15;17)
    H Nakamura
    Department of Internal Medicine, Nagasaki Municipal Medical Center, Japan
    Leuk Res 22:793-6. 1998
    ..Although the number of patients examined was small, these results indicate that the genes rearranged as a result of these chromosome translocations (ABL, BCR, AML-1 and PML) are not genomically imprinted...
  82. ncbi request reprint The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
    M Fujimoto
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    J Hum Genet 43:32-6. 1998
    ..82, 4.21, 4.82, and 4.21 (theta = 0) at these loci, respectively. These data indicated that the MDK locus is in the vicinity of D2S2284 and D2S2188 loci that are most likely mapped to 2q24-q32...
  83. ncbi request reprint Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family
    M Ghadami
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
    Am J Med Genet 104:147-51. 2001
    ..92 at a recombination fraction straight theta = 0.00 (penetrance = 1.00) for the D2S2179 locus. The result not only confirmed the gene assignment, but also suggests genetic homogeneity of the disease...
  84. 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
    ....
  85. pmc SMOC1 is essential for ocular and limb development in humans and mice
    Ippei Okada
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
    Am J Hum Genet 88:30-41. 2011
    ..Our findings indicate that SMOC1/Smoc1 is essential for ocular and limb development in both humans and mice...
  86. ncbi request reprint Repeat-directed isolation of a novel gene preferentially expressed from the maternal allele in human placenta
    K Miura
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    J Hum Genet 44:1-9. 1999
    ..While the pentamer repeat might contribute to this effect, it is also possible that the differential allele usage might reflect the local chromosomal structure known as the imprinting domain...
  87. ncbi request reprint Assignment of the human GLI2 gene to 2q14 by fluorescence in situ hybridization
    N Matsumoto
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki, 852, Japan
    Genomics 36:220-1. 1996
  88. ncbi request reprint Kabuki make-up syndrome: a review
    Naomichi Matsumoto
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
    Am J Med Genet C Semin Med Genet 117:57-65. 2003
    ..Although clinical manifestations of KMS are well established, its natural history, useful for genetic counseling, remains to be studied...
  89. 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...
  90. ncbi request reprint Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16
    Hiroaki Tomita
    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
    Lancet 359:2000-2. 2002
    ..15 (theta;=0.00) at the locus D16S3044. Identification of the earwax locus could contribute to further anthropogenetic studies and physiological and pathological understanding of the apocrine-gland development...
  91. ncbi request reprint Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?
    Kiyonori Miura
    Department of Obstetrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Hum Genet 50:1-6. 2005
    ..This "chance hypothesis" can simply explain why MC DZT are very rare in natural pregnancy. Large-scale research on the prevalence of ART-associated MC DZT and long-term follow-up of the twins are essential...
  92. ncbi request reprint The novel gene, gamma2-COP (COPG2), in the 7q32 imprinted domain escapes genomic imprinting
    K Yamasaki
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki, 852 8523, Japan
    Genomics 68:330-5. 2000
    ..This additional MEST 3'-UTR may complicate analysis of gamma2-COP imprinting. Our data indicate that the region containing MEST at 7q32 is an imprinted domain, but gamma2-COP adjacent to MEST escapes genomic imprinting...
  93. ncbi request reprint A HhaI/BstUI polymorphism in a novel gene at human chromosome 11p15.5
    K Miura
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    J Hum Genet 43:283-4. 1998
    ..This polymorphism will be useful in the allelic analysis of expression and methylation of the novel gene...
  94. pmc Identification of eight novel NSD1 mutations in Sotos syndrome
    J Kamimura
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    J Med Genet 40:e126. 2003
  95. 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...
  96. pmc The human ASCL2 gene escaping genomic imprinting and its expression pattern
    Toshinobu Miyamoto
    Department of Human Genetics, School of Medicine, Nagasaki University, Japan
    J Assist Reprod Genet 19:240-4. 2002
    ..In addition, it has been shown that the human ASCL2 gene escapes genomic imprinting...
  97. ncbi request reprint Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a
    K Yamasaki
    Department of Human Genetics, School of Medicine, Nagasaki University, 1 12 4 Sakamoto machi, Nagasaki, Japan
    Hum Mol Genet 12:837-47. 2003
    ..Reciprocal imprinting of sense and antisense transcripts present only in neurons suggests that the neuron-specific imprinting mechanism is related to the lineage determination of neural stem cells...
  98. ncbi request reprint Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome
    K Yoshiura
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Cytogenet Cell Genet 64:208-9. 1993
    ..The results indicated that BMP1 is not responsible for Langer-Giedion syndrome, whose putative gene has been assigned to 8q24...
  99. ncbi request reprint Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32
    S Hayashida
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki, 852 8523, Japan
    Genomics 66:221-5. 2000
    ..This integrated physical and transcript map provides a valuable resource for identification of an imprinted gene(s) in this region as well as a candidate gene(s) for autistic disorder...
  100. pmc A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I
    T Sasaki
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    J Med Genet 34:335-9. 1997
    ..The data obtained are useful for defining the location of the putative mental retardation gene(s) in TRPS1 and Langer-Giedion syndrome (TRPS2), as well as a locus for postaxial polydactyly...
  101. ncbi request reprint Identification of de novo chromosome rearrangements: five cases analyzed with differential chromosome painting
    Tomoko Ida
    Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan
    Am J Med Genet 108:182-6. 2002
    ..3::8q24.3 --> 8q23.2::?p11.2 --> ?ps) in case 2; 47,XY,+der(10)(pter --> q11) in case 3; 46,XX,der(3)(17pter --> 17p11.2::3p26 --> 3qter) in case 4; and 46,XY,dup(1) (pter --> q32::q25 --> qter) in case 5...