Kenjiro Kosaki

Summary

Affiliation: Keio University
Country: Japan

Publications

  1. ncbi request reprint DHPLC in clinical molecular diagnostic services
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Mol Genet Metab 86:117-23. 2005
  2. ncbi request reprint EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome
    Chiharu Torii
    Division of Medical Genetics, Departments of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Congenit Anom (Kyoto) 47:49-52. 2007
  3. doi request reprint Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo, Japan
    Congenit Anom (Kyoto) 51:12-5. 2011
  4. ncbi request reprint Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 129:308-11. 2004
  5. ncbi request reprint Complete mutation analysis panel of the 39 human HOX genes
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Teratology 65:50-62. 2002
  6. doi request reprint Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation
    Rika Kosaki
    Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan
    Am J Med Genet A 146:2574-7. 2008
  7. ncbi request reprint 1173C>T polymorphism in VKORC1 modulates the required warfarin dose
    K Kosaki
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Tokyo, Shinjuku ku, 160 8582, Japan
    Pediatr Cardiol 27:685-8. 2006
  8. ncbi request reprint Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography
    Michihiko Aramaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Genet Test 10:244-51. 2006
  9. ncbi request reprint Family history and BRCA1/BRCA2 status among Japanese ovarian cancer patients and occult cancer in a BRCA1 mutant case
    Akira Hirasawa
    Department of Obstetrics and Gynecology, School of Medicine, Keio University, 35 Shinanomachi, Shinjyuku ku, Tokyo 160 8582, Japan
    Jpn J Clin Oncol 44:49-56. 2014
  10. doi request reprint Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype
    Kosuke Izumi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 146:1967-71. 2008

Detail Information

Publications87

  1. ncbi request reprint DHPLC in clinical molecular diagnostic services
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Mol Genet Metab 86:117-23. 2005
    ..Using the COPPER plate system, we are functioning as a reference laboratory for the clinical molecular diagnosis of congenital malformation syndromes and are presently analyzing more than 200 samples annually from all over Japan...
  2. ncbi request reprint EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome
    Chiharu Torii
    Division of Medical Genetics, Departments of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Congenit Anom (Kyoto) 47:49-52. 2007
    ..We deduced that Ser118 in EFNB1 resides at the major dimerization interface with Eph receptors and inferred that the Ser118Ile mutation may impede the protrusion of the G-H loop, thereby disturbing Eph-Ephrin signal transduction...
  3. doi request reprint Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo, Japan
    Congenit Anom (Kyoto) 51:12-5. 2011
    ..Close collaboration among animal researchers, epidemiologists and clinicians hopefully will enhance and maximize the scientific value of rare cases...
  4. ncbi request reprint Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 129:308-11. 2004
    ..This figure is much higher than the general risk of 1-2% for siblings of a patient with isolated hydrocephalus...
  5. ncbi request reprint Complete mutation analysis panel of the 39 human HOX genes
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Teratology 65:50-62. 2002
    ....
  6. doi request reprint Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation
    Rika Kosaki
    Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan
    Am J Med Genet A 146:2574-7. 2008
  7. ncbi request reprint 1173C>T polymorphism in VKORC1 modulates the required warfarin dose
    K Kosaki
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Tokyo, Shinjuku ku, 160 8582, Japan
    Pediatr Cardiol 27:685-8. 2006
    ....
  8. ncbi request reprint Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography
    Michihiko Aramaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Genet Test 10:244-51. 2006
    ..The implementation of this screening method for CHD7 will help medical geneticists confirm their clinical impressions and provide accurate genetic counseling to the patients with CHARGE syndrome and their families...
  9. ncbi request reprint Family history and BRCA1/BRCA2 status among Japanese ovarian cancer patients and occult cancer in a BRCA1 mutant case
    Akira Hirasawa
    Department of Obstetrics and Gynecology, School of Medicine, Keio University, 35 Shinanomachi, Shinjyuku ku, Tokyo 160 8582, Japan
    Jpn J Clin Oncol 44:49-56. 2014
    ....
  10. doi request reprint Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype
    Kosuke Izumi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 146:1967-71. 2008
    ..The observation gives further credence to the concept that the critical region responsible for the dup(3q) phenotype to 3q26.3-q27...
  11. ncbi request reprint An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome
    Toru Udaka
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 143:721-6. 2007
    ..As demonstrated in this study, MP/LC is a promising method for characterizing exonic deletions, which are largely left unexamined in most routine mutation analysis...
  12. ncbi request reprint Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography
    Hazuki Samejima
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Genet Test 11:216-27. 2007
    ..The implementation of this screening method for JAG1 and NOTCH2 will help medical geneticists confirm their clinical impressions and provide accurate genetic counseling to the patients with Alagille syndrome and their families...
  13. ncbi request reprint Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome
    Michihiko Aramaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Birth Defects Res A Clin Mol Teratol 79:50-7. 2007
    ..1 was identified as a causative gene for CHARGE syndrome. Because CHD7 was identified as a causative gene using a positional cloning approach, the role of CHD7 in early embryogenesis needs to be further investigated...
  14. ncbi request reprint Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography
    Toru Udaka
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Genet Test 10:265-71. 2006
    ..We conclude that large deletions including several exons are a relatively frequent cause of RTS, and that MP/LC is an effective method for detecting these deletions...
  15. ncbi request reprint Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo
    Kosuke Izumi
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    Pediatr Res 61:660-5. 2007
    ..This report identifies, for the first time, an enhancer element of SALL1...
  16. doi request reprint Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma
    Noriko Shimasaki
    Department of Pediatrics, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    J Pediatr Hematol Oncol 30:347-52. 2008
    ..04) more frequently. This preliminary study does not prove but suggests that MTHFR 677C/T and RFC1 80G/A polymorphisms may serve as predictors of toxicity during maintenance chemotherapy...
  17. ncbi request reprint Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype
    Toshiki Takenouchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 161:3057-62. 2013
    ....
  18. ncbi request reprint Phenotypic spectrum of CHARGE syndrome with CHD7 mutations
    Michihiko Aramaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Pediatr 148:410-4. 2006
    ..Molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome...
  19. ncbi request reprint Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma
    Noriko Shimasaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Pediatr Hematol Oncol 28:64-8. 2006
    ..This study suggests but does not prove that the RFC1 80G>A polymorphism may contribute to interindividual variability in responses to high-dose methotrexate...
  20. ncbi request reprint Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements
    Toru Udaka
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Genet Test 11:241-8. 2007
    ..This system is expected to be useful for making specific diagnoses and in genetic counseling for children with idiopathic mental retardation, a sizable fraction of whom have subtelomeric rearrangements...
  21. ncbi request reprint PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 87:3529-33. 2002
    ....
  22. ncbi request reprint Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography
    Toru Udaka
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    Genet Test 9:85-92. 2005
    ..The clinical application of this comprehensive screening system for examining the entire TPMT gene would help to identify patients at risk for bone marrow failure prior to 6-mercaptopurine therapy...
  23. doi request reprint Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family
    Rika Kosaki
    Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan
    Am J Med Genet A 149:702-5. 2009
    ..We suggest that cryptic rearrangements at the most proximal end, analogous to those at the most distal end, should be considered as an appreciable cause of recurrent multiple congenital anomaly-mental retardation phenotype...
  24. ncbi request reprint Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients
    Goro Sasaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 88:3431-6. 2003
    ..2% of normal enzyme activity and appears relatively frequent in Asian populations, and that V89L polymorphism is unlikely to raise the susceptibility to the development of micropenis...
  25. ncbi request reprint Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?
    Rika Kosaki
    Division of Medical Genetics, Saitama Children s Medical Center, Iwatsuki, Japan
    Congenit Anom (Kyoto) 45:35-8. 2005
    ..We suggest that many, if not all, of the features of this patient could be accounted for by combined haploinsufficiency of the TWIST and HOXA cluster. Hence, the patient's phenotype may define a new contiguous gene syndrome on 7p...
  26. ncbi request reprint Upper airway obstruction in neonates and infants with CHARGE syndrome
    Yoko Naito
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 143:1815-20. 2007
    ....
  27. ncbi request reprint Genome-wide screening of dioxin-responsive genes in fetal brain: bioinformatic and experimental approaches
    Hideki Fujita
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Congenit Anom (Kyoto) 46:135-43. 2006
    ..In mice, prenatal dioxin exposure altered the expression of 10 transcription factors, many of which have been documented to play a role in organogenesis. These genes may represent potential mediators of dioxin's effects in fetal tissues...
  28. doi request reprint Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association
    Yoko Naito
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Pediatr Res 65:607-12. 2009
    ....
  29. ncbi request reprint Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay
    Mitsu Hattori
    Division of Maxillofacial Neck Reconstruction, Maxillofacial Orthognathics, Department of Maxillofacial Reconstruction and Function, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
    Genet Test Mol Biomarkers 13:623-30. 2009
    ..In summary, we have developed a robust, rapid, and cost-effective COBRA-DHPLC-based screening system for RSS...
  30. doi request reprint Association between patient age at the time of surgical treatment for endometriosis and aryl hydrocarbon receptor repressor polymorphism
    Hironori Asada
    Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan
    Fertil Steril 92:1240-2. 2009
    ..6% vs. 9.9%) in the younger group (<or=30 years) than in the older group (>30 years). AHHR genotyping may help to identify a subpopulation of women who are susceptible to the earlier onset of endometriosis...
  31. doi request reprint Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis
    Toshiki Takenouchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Eur J Med Genet 56:50-3. 2013
    ..In conclusion, anterior segment defects of the eyes, especially when accompanied by decreased white matter volume on neuroimaging, should raise the clinical suspicion of 14q22 microdeletion...
  32. doi request reprint Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting
    Toshiki Takenouchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 158:2537-41. 2012
    ..Awareness of the risk of hypernatremia is of great importance for the anticipatory management of patients with ectrodactyly and an oral cleft, even in the absence of overt hypotelorism...
  33. doi request reprint Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome
    Tatsuhiko Yagihashi
    Department of Pediatrics, Center for Clinical Research, Keio University School of Medicine, Tokyo, Japan
    Congenit Anom (Kyoto) 52:82-6. 2012
    ..A clear need exists to follow-up patients with RTS to catch the eventual emergence of psychiatric problems with age. If necessary, pharmacological treatment should be considered...
  34. ncbi request reprint [Russell-Silver syndrome]
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine
    Nihon Rinsho . 2006
  35. ncbi request reprint Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Endocr J 53:741-3. 2006
    ..The results provide further support for the notion that KS phenotype can be included in the phenotypic spectrum of CHARGE syndrome, and indicate that CHARGE syndrome with KS phenotype is caused by a CHD7 mutation...
  36. ncbi request reprint A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Ophthalmic Genet 23:43-7. 2002
    ..We suggest that the polyalanine tract may have a differential role in eyelid and ovarian development and function. Further work is required to clarify whether ovarian function can be predicted on the basis of genotype...
  37. ncbi request reprint Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism
    Rika Kosaki
    Department of Clinical Genetics and Molecular Medicine, Keio University School of Medicine, Tokyo, Japan
    Congenit Anom (Kyoto) 46:115-7. 2006
    ..When the baby's phenotype is abnormal, karyotyping on multiple tissues is useful for confirming clinical impression as well as determining the prognosis and providing accurate genetic counseling...
  38. ncbi request reprint A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    Brain Dev 26:530-4. 2004
    ..For this reason it is crucial for the better management of epilepsy and other chronic illnesses in general to establish the correlation of genotype of CYP enzymes and pharmacokinetics/dynamics of drugs...
  39. doi request reprint Microdeletion of the Down syndrome critical region at 21q22
    Hideki Fujita
    Division of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan
    Am J Med Genet A 152:950-3. 2010
    ..97 Mb at chromosome 21q22. The extreme degree of microcephaly in this patient may be ascribed to the haploinsufficiency of DYRK1A, since brain size is severely reduced in heterozygotes for the Dyrk1a null mutation in mice...
  40. doi request reprint 12q14 microdeletion syndrome and short stature with or without relative macrocephaly
    Toshiki Takenouchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 158:2542-4. 2012
    ..These results confirm that a deletion spanning both HMGA2 and this presumptive interval locus would cause an SRS-like phenotype...
  41. doi request reprint Congenital corneal staphyloma as a complication of Kabuki syndrome
    Ryuma Tanaka
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 158:2000-2. 2012
    ..In conclusion, congenital corneal staphyloma is a complication of Kabuki syndrome with MLL2 mutations...
  42. doi request reprint Ophthalmic features of CHARGE syndrome with CHD7 mutations
    Sachiko Nishina
    Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan
    Am J Med Genet A 158:514-8. 2012
    ....
  43. ncbi request reprint [Molecular diagnosis of multiple malformation syndrome]
    Chiharu Torii
    Department of Pediatrics, Keio University School of Medicine
    Nihon Rinsho 63:431-6. 2005
  44. ncbi request reprint Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
    Toru Udaka
    Division of Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Shinanomachi, Tokyo, Japan
    Congenit Anom (Kyoto) 45:125-31. 2005
    ..The implementation of similar methodologies for other dysmorphic syndromes will help medical geneticists to confirm their clinical impressions and to provide accurate genetic counseling for patients and their families...
  45. ncbi request reprint Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome
    Rika Kosaki
    Department of Clinical and Molecular Genetics, National Center for Child Health and Development, Tokyo, Japan
    Am J Med Genet A 143:1087-90. 2007
    ..The observation lends further support to the concept that Goldenhar syndrome is an etiologically heterogeneous disorder that may have a genetic basis in some cases...
  46. doi request reprint Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype
    Hiroshi Yoshihashi
    Division of Medical Genetics, Tokyo Metropolitan Children s Hospital, Gunma Children s Medical Center Department of Pediatrics, Keio University School of Medicine, Keio University School of Medicine, Tokyo, Japan
    Pediatr Dermatol 28:550-4. 2011
    ..This patient's case history provides further molecular evidence supporting the concept that "male focal dermal hypoplasia" does exist and that typical features such as telangiectasia and fat herniation are sometimes absent...
  47. doi request reprint Branchial arch defects and 19p13.12 microdeletion: defining the critical region into a 0.8 M base interval
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 155:2212-4. 2011
    ..8-Mb interval defined by the deletion in the presently reported patient...
  48. ncbi request reprint EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma
    Keiko Akahoshi
    Department of Medical Genetics, Shimada Ryoiku Center, Tokyo, Japan
    Am J Med Genet A 120:370-3. 2003
    ..We speculated that p63 may exert a biological function as a tumor suppressor. Malignant lymphoma should be considered as an important complication of EEC3...
  49. ncbi request reprint Position-specific expression of Hox genes along the gastrointestinal tract
    Naohisa Yahagi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Congenit Anom (Kyoto) 44:18-26. 2004
    ..The pattern recapitulates the expression pattern in the embryonic gastrointestinal tract. We suggest that Hox genes may play a pivotal role in the position-specific regenerative process of intestinal epithelial cells...
  50. ncbi request reprint Characteristic phenotype of immortalized periodontal cells isolated from a Marfan syndrome type I patient
    Momotoshi Shiga
    Maxillofacial Orthognathics, Department of Maxillofacial Reconstruction and Function, Division of Maxillofacial Neck Reconstruction, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo, 113 8549, Japan
    Cell Tissue Res 331:461-72. 2008
    ..Our findings also suggest that FBN1 regulates cell alignment and microfibril assembly in PDLs...
  51. ncbi request reprint Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism
    Hirosuke Inoue
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka, 812 8582, Japan
    Eur J Pediatr 169:839-44. 2010
    ..Although he is still suffering from severe hypoparathyroidism, he is alive without serious infections for 10 months...
  52. ncbi request reprint Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family
    Kosuke Izumi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 143:2838-42. 2007
  53. ncbi request reprint Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB
    Tomohide Goto
    Department of Neurology, Tokyo Metropolitan Kiyose Children s Hospital, Tokyo, Japan
    Congenit Anom (Kyoto) 44:225-9. 2004
    ....
  54. ncbi request reprint Premature ovarian failure in a female with proximal symphalangism and Noggin mutation
    Kenjiro Kosaki
    Keio University School of Medicine, Tokyo, Japan
    Fertil Steril 81:1137-9. 2004
    ..To report a case of premature ovarian failure (POF) and a mutation of the gene for Noggin (NOG)...
  55. pmc In utero exposure to dioxin causes neocortical dysgenesis through the actions of p27Kip1
    Takayuki Mitsuhashi
    Department of Pediatrics, School of Medicine, Keio University, Shinjuku ku, Tokyo 160 8582, Japan
    Proc Natl Acad Sci U S A 107:16331-5. 2010
    ..These results show that environmental pollutants may affect neocortical histogenesis through alterations of functions of specific gene(s)/protein(s) (in our case, dioxins), exerting adverse effects by altering functions of p27(Kip1)...
  56. ncbi request reprint Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication
    Rika Kosaki
    Division of Medical Genetics, Saitama Children s Medical Center, Saitama 339 551, Japan
    Congenit Anom (Kyoto) 45:62-4. 2005
    ....
  57. doi request reprint Catastrophic autonomic crisis with cardiovascular collapse in spinal muscular atrophy with respiratory distress type 1
    Toshihiro Nomura
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Child Neurol 28:949-51. 2013
    ..Because this underlying dysautonomia seemed markedly aggravated by the psychological stress, careful autonomic evaluation and management are warranted in patients with SMARD1...
  58. doi request reprint Multiple café au lait spots in familial patients with MAP2K2 mutation
    Toshiki Takenouchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 164:392-6. 2014
    ..The present observation suggests that some perturbation in the RAS/MAPK signaling cascade results in multiple café au lait spots, a key diagnostic phenotype of rasopathies, although the exact mechanism remains to be elucidated...
  59. doi request reprint Severe obstructive sleep apnea in Loeys-Dietz syndrome successfully treated using continuous positive airway pressure
    Toshiki Takenouchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 161:1733-6. 2013
    ..Careful evaluation and aggressive intervention for the alleviation of obstructive sleep apnea is warranted in Loeys-Dietz syndrome...
  60. doi request reprint Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum
    Toshiki Takenouchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 158:812-5. 2012
    ..A thorough abdominal investigation to rule out HSCR should be considered in patients with XLH accompanied by severe constipation...
  61. ncbi request reprint Case report: Adult phenotype of Mulvihill-Smith syndrome
    Tatsuhiko Yagihashi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 149:496-500. 2009
    ..We posit that an early onset tumor, sleep disorder and cognitive decline are adult manifestations of Mulvihill-Smith syndrome...
  62. ncbi request reprint Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis
    Hideki Fujita
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Teratology 65:10-8. 2002
    ..We attempt to characterize the human AHRR gene and investigate the relationship between AHRR polymorphisms and the incidence of micropenis, a phenotype of undermasculinization...
  63. ncbi request reprint Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin
    Hiroyuki Fukushima
    Department of Pediatrics, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    Am J Med Genet A 152:1919-24. 2010
    ..This imbalance in the biosynthesis of vasoactive eicosanoids may account for the rapid progression of PVOD in DS infants with a left-to-right shunt...
  64. ncbi request reprint Monozygotic twins of Smith-Magenis syndrome
    Rika Kosaki
    Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan
    Am J Med Genet A 143:768-9. 2007
  65. ncbi request reprint Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome
    Kosuke Izumi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Pediatr Neurol 36:258-60. 2007
    ....
  66. doi request reprint Persistent hypertension despite successful dilation of a stenotic renal artery in a boy with neurofibromatosis type 1
    Keisuke Ueda
    Division of Neurology, Tokyo Metropolitan Children s Medical Center, Tokyo, Japan
    Am J Med Genet A 161:1154-7. 2013
    ..Increased pulse pressure supports the hypothesis. This marker of arterial stiffness can be assessed non-invasively and should be evaluated routinely in NF1...
  67. ncbi request reprint Congenital hypothyroidism in Peters plus syndrome
    Rika Kosaki
    Department of Pediatrics, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    Ophthalmic Genet 27:67-9. 2006
    ....
  68. ncbi request reprint Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder
    K Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, 160 8582, Japan
    Mol Psychiatry 6:87-91. 2001
    ..Localization of human IMPACT at 18cen in this study defines a promising target region in which to search for putative BPAD genes...
  69. ncbi request reprint Enhanced DNA fragmentation in the thymus of spontaneously hypertensive rats
    H Suzuki
    Department of Bioengineering and Institute for Biomedical Engineering, University of California, San Diego, La Jolla, CA 92093 0412, USA
    Am J Physiol 276:H2135-40. 1999
    ..Thus increased DNA fragmentation represents one of the mechanisms associated with thymic atrophy, a feature that reflects immune suppression in SHR...
  70. ncbi request reprint Fluorescence-based DHPLC for allelic quantification by single-nucleotide primer extension
    K Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Biochem Biophys Methods 47:111-9. 2001
    ..We conclude that SNuPE, when combined with fluorescence-based DHPLC, can accurately determine the relative molar proportion of one allele in total DNA...
  71. doi request reprint Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome
    Kota Watanabe
    Department of Advanced Therapy for Spine and Spinal Cord Disorders, Keio University School of Medicine, Tokyo, Japan
    J Pediatr Orthop 31:186-93. 2011
    ..Among these skeletal findings, developmental scoliosis is recognized in half of all patients with SGS. However, no earlier reports have described the surgical treatment of scoliosis associated with SGS...
  72. doi request reprint Effects of the CYP2D6*10 alleles and co-medication with CYP2D6-dependent drugs on risperidone metabolism in patients with schizophrenia
    Tatsuhiko Yagihashi
    Department of Pediatrics, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    Hum Psychopharmacol 24:301-8. 2009
    ..We evaluated the effect of the CYP2D6*10 allele, which is a prevalent mutant allele among East Asians...
  73. doi request reprint Influence of CYP3A5 and ABCB1 gene polymorphisms on calcineurin inhibitor-related neurotoxicity after hematopoietic stem cell transplantation
    Masakatsu Yanagimachi
    Department of Pediatrics, Yokohama City University School of Medicine, Yokohama, Tokyo, Japan
    Clin Transplant 24:855-61. 2010
    ..CNIs are substrates for CYP3A5 and P-glycoprotein (P-gp), encoded by ABCB1 gene. In the present study, we hypothesized that genetic variability in CYP3A5 and ABCB1 genes may be associated with CNI-related neurotoxicity...
  74. doi request reprint Reversible diffuse white matter lesion in Alagille syndrome
    Toshiki Takenouchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Pediatr Neurol 45:54-6. 2011
    ....
  75. ncbi request reprint Marfanoid habitus with abnormal situs
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 127:310-2. 2004
    ..We report a similar phenotype in two unrelated patients. Documentation of this specific combination of Marfanoid habitus and abnormal situs gives further credence to the notion that the combination may represent a distinct syndrome...
  76. ncbi request reprint Micropenis and the AR Gene: mutation and CAG repeat-length analysis
    T Ishii
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 86:5372-8. 2001
    ..4 and 6.5%; patients with definite micropenis, 15.2 and 3.0%; and 100 control males, 21.0 and 10.0%). These results suggest that an AR gene mutation is rare and that CAG repeat length is not expanded in children with isolated micropenis...
  77. ncbi request reprint Genitourinary anomaly in congenital varicella syndrome: case report and review
    Hisayo Fujita
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Pediatr Nephrol 19:554-7. 2004
    ..Most of these patients had neurogenic bladder, the pathophysiology of which could be explained by the known neurotropic nature of the virus...
  78. doi request reprint Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly
    Mariko Kamo
    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
    Am J Dermatopathol 33:403-6. 2011
    ....
  79. pmc Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome
    H Yoshihashi
    Department of Pediatrics and Pharmacia Upjohn Fund for Growth and Development Research, Keio University School of Medicine, Tokyo, Japan
    Am J Hum Genet 67:476-82. 2000
    ..The fact that monoallelic GRB10 expression was observed from the maternal allele in this study suggests but does not prove that these maternally transmitted mutant alleles contribute to the RSS phenotype...
  80. ncbi request reprint Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes
    K Maeyama
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan
    Teratology 63:119-26. 2001
    ..CONCLUSIONS: We suggest that sequence variations in HNF3beta, Lefty1, and Nodal might account, in part, for the interstrain differences in susceptibility to situs abnormalities among the offspring of diabetic dams...
  81. ncbi request reprint Spondylar dysplasia in type X collagenopathy
    G Nishimura
    Nishi Tama Hospital, Tokyo, Japan
    Pediatr Radiol 31:76-80. 2001
    ....
  82. ncbi request reprint Molecular pathology of Shprintzen-Goldberg syndrome
    Kenjiro Kosaki
    Am J Med Genet A 140:104-8; author reply 109-10. 2006
  83. ncbi request reprint Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
    Dau Ming Niu
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
    Prenat Diagn 26:1054-7. 2006
    ..We report two siblings, a boy and a girl, with Cornelia de Lange syndrome (CdLS), born to unaffected parents, and attempt to delineate the underlying molecular mechanism leading to familial recurrence...
  84. ncbi request reprint Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome
    Yumi Asakura
    Department of Endocrinology and Metabolism, 2 138 4 Mutsukawa Minamiku Yokohamashi, Kanagawa Children s Medical Center, Kanagawa 232 8555, Japan
    J Clin Endocrinol Metab 93:920-4. 2008
    ..CHARGE syndrome is a complex of congenital malformations, and CHD7 has been reported as a major gene involved in the etiology...
  85. ncbi request reprint Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13
    Takuya Tamame
    Am J Med Genet A 129:321-2. 2004
  86. ncbi request reprint X-linked cubitus valgus with mental retardation and typical face
    Kenneth Lyons Jones
    Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California, USA
    Am J Med Genet A 123:33-6. 2003
    ..Documentation of this disorder in two maternal male first cousins as well as in a male and his maternal uncle support an X-linked recessive mode of inheritance for this condition...
  87. ncbi request reprint OEIS complex with del(3)(q12.2q13.2)
    Rika Kosaki
    Am J Med Genet A 135:224-6. 2005