T Ogata

Summary

Affiliation: National Research Institute for Child Health and Development
Country: Japan

Publications

  1. ncbi SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features
    Tsutomu Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 87:1390-4. 2002
  2. ncbi SHOX defects in idiopathic short stature
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, The National Research Institute for Child Health and Development, Tokyo, Japan
    J Pediatr Endocrinol Metab 15:1439-40. 2002
  3. ncbi SHOX haploinsufficiency and its modifying factors
    Tsutomu Ogata
    Department of Pediatrics, Keio University School of Medicine and Tokyo Electric Power Company Hospital, Tokyo, Japan
    J Pediatr Endocrinol Metab 15:1289-94. 2002
  4. ncbi PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo, 157 8535, Japan
    Pediatr Endocrinol Rev 2:669-74. 2005
  5. ncbi Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone
    Keiko Homma
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    J Clin Endocrinol Metab 91:2643-9. 2006
  6. ncbi MAMLD1 (CXorf6): a new gene for hypospadias
    T Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Sex Dev 2:244-50. 2008
  7. ncbi Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Epigenetics 3:181-7. 2008
  8. ncbi MAMLD1 (CXorf6): a new gene involved in hypospadias
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    Horm Res 71:245-52. 2009
  9. ncbi Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet 92:256-9. 2000
  10. ncbi Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Clin Endocrinol Metab 85:2927-30. 2000

Collaborators

Detail Information

Publications104 found, 100 shown here

  1. ncbi SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features
    Tsutomu Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 87:1390-4. 2002
    ....
  2. ncbi SHOX defects in idiopathic short stature
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, The National Research Institute for Child Health and Development, Tokyo, Japan
    J Pediatr Endocrinol Metab 15:1439-40. 2002
  3. ncbi SHOX haploinsufficiency and its modifying factors
    Tsutomu Ogata
    Department of Pediatrics, Keio University School of Medicine and Tokyo Electric Power Company Hospital, Tokyo, Japan
    J Pediatr Endocrinol Metab 15:1289-94. 2002
    ....
  4. ncbi PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo, 157 8535, Japan
    Pediatr Endocrinol Rev 2:669-74. 2005
    ..Phenotypic evaluation in LS patients suggests that a hypertrophic cardiomyopathy rather than an electrocardiographic conduction abnormality is characteristic of PTPN11 mutation positive patients...
  5. ncbi Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone
    Keiko Homma
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    J Clin Endocrinol Metab 91:2643-9. 2006
    ....
  6. ncbi MAMLD1 (CXorf6): a new gene for hypospadias
    T Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Sex Dev 2:244-50. 2008
    ....
  7. ncbi Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Epigenetics 3:181-7. 2008
    ....
  8. ncbi MAMLD1 (CXorf6): a new gene involved in hypospadias
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    Horm Res 71:245-52. 2009
    ....
  9. ncbi Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet 92:256-9. 2000
    ....
  10. ncbi Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Clin Endocrinol Metab 85:2927-30. 2000
    ....
  11. ncbi Genetic evidence for a novel gene(s) involved in urogenital development on 10q26
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Kidney Int 58:2281-90. 2000
    ..In this study, we examined genotype-phenotype correlations in patients with distal 10q monosomy...
  12. ncbi Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Hum Genet 103:51-6. 1998
    ..This supports the notion that functional absence of the MLS gene caused by inactivation of the normal X chromosome plays a pivotal role in the development of MLS in patients with Xp22 monosomy...
  13. ncbi 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...
  14. ncbi Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 86:5498-508. 2001
    ....
  15. ncbi SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Growth Horm IGF Res 9:53-7; discussion 57-8. 1999
    ..The results indicate that SHOX is responsible for short stature and dyschondrosteosis...
  16. ncbi Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11
    K Muroya
    Department of Paediatrics, Keio University School of Medicine, Tokyo, Japan
    J Med Genet 36:187-91. 1999
    ....
  17. ncbi Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
    Masayo Kagami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    Nat Genet 40:237-42. 2008
    ....
  18. ncbi 47,XXX male: A clinical and molecular study
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    Am J Med Genet 98:353-6. 2001
    ....
  19. ncbi Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome
    Rie Yoshida
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 89:3359-64. 2004
    ....
  20. ncbi Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Am J Med Genet A 137:72-6. 2005
    ..The results, in conjunction with those reported by Flanagan et al. [2002], suggest that a cis-acting enhancer exists in the SHOX 3' region around DXYS233...
  21. ncbi Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    T Ishii
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Clin Endocrinol Metab 85:2922-6. 2000
    ..The results imply that the C-terminus of AIRE protein including the third LXXLL motif plays a critical role in the development of APECED, and that the phenotypic spectrum can vary between siblings with the same mutations...
  22. ncbi Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype
    K Yamazawa
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    J Med Genet 47:782-5. 2010
    ..We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX)...
  23. ncbi Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype
    Kana Hosoki
    Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Eur J Hum Genet 16:1019-23. 2008
    ..The results indicate the occurrence of an epimutation (hypomethylation) affecting the normally methylated DMRs of paternal origin, and imply that epimutations should be examined in patients with upd(14)mat-like phenotype...
  24. ncbi Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Endocr J 48:317-22. 2001
    ....
  25. ncbi Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene
    T Ogata
    Department of Paediatrics, Keio University School of Medicine and Tokyo Electric Power Company Hospital, Tokyo, Japan
    Clin Endocrinol (Oxf) 54:835-8. 2001
    ....
  26. ncbi Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas
    Kazuki Yamazawa
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    J Mol Med (Berl) 86:1171-81. 2008
    ....
  27. ncbi [SHOX haploinsufficiency]
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development
    Nippon Rinsho . 2006
  28. ncbi Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report
    Naoko Sato
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    Hum Reprod 20:2173-8. 2005
    ..GT in FGFR1 mutations is effective in acquiring fertility but has a risk of transmitting the mutation and the disease phenotype to the next generation...
  29. ncbi Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency
    Tsutomu Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Eur J Endocrinol 147:249-54. 2002
    ..To report on growth pattern and body proportion in the combination of short stature homeobox-containing gene (SHOX) overdosage and gonadal estrogen deficiency...
  30. ncbi Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1
    Tomonobu Hasegawa
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Clin Endocrinol Metab 89:5930-5. 2004
    ..The results suggest that SF-1 haploinsufficiency can selectively impair testicular development and permit the biosynthesis of AMH and testosterone in dysgenetic testes and the production of gonadotropins in pituitary gonadotropes...
  31. ncbi Association of primary ovarian insufficiency with a specific human leukocyte antigen haplotype (A*24:02-C*03:03-B*35:01) in Japanese women
    T Ayabe
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
    Sex Dev 5:235-40. 2011
    ..82% in women with POI and 1.06% in the control data; p = 0.00049). The results imply that a specific HLA haplotype (A*24:02-C*03:03-B*35:01) constitutes a susceptibility factor for apparently isolated POI in Japanese women...
  32. ncbi Sex determining gene on the X chromosome short arm: dosage sensitive sex reversal
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Acta Paediatr Jpn 38:390-8. 1996
    ..In addition to its clinical importance, the exploration of DSS must provide a useful clue to phylogenetic studies of sex chromosomes and dosage compensation...
  33. ncbi Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata
    S Ikegawa
    Laboratory of Genome Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan
    Am J Med Genet 94:300-5. 2000
    ..X-inactivation patterns of the patients showed no skewing, an observation that supports the assumption that inactivation of the EBP gene occurs at random in affected individuals...
  34. ncbi Testicular volume in Japanese boys up to the age of 15 years
    N Matsuo
    Department of Paediatrics, Keio University Medical School, Tokyo, Japan
    Eur J Pediatr 159:843-5. 2000
    ..1 years of age (10th percentile), respectively. CONCLUSION: Swelling of the testis in Japanese children begins approximately 1 year earlier than in Swiss children in accordance with the earlier skeletal maturation in Japanese children...
  35. ncbi 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
    ....
  36. ncbi Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development
    Goro Sasaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet 110:365-9. 2002
    ..The results are consistent with the previous finding that UMS is caused by haploinsufficiency of TBX3, and imply that mild gonadotropin deficiency may be the primary cause for underdeveloped external genitalia in males with UMS...
  37. ncbi 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...
  38. ncbi Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Endocr J 51:197-200. 2004
    ..8, P = 0.0060). The results imply that gonadal estrogens have a deleterious effect on pubertal growth in SHOX haploinsufficiency, and that the growth disadvantage is recognizable by longitudinal rather than cross-sectional growth studies...
  39. ncbi 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...
  40. ncbi CXorf6 is a causative gene for hypospadias
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    Nat Genet 38:1369-71. 2006
    ..These data imply that CXorf6 is a causative gene for hypospadias...
  41. ncbi [Leri-Weill syndrome]
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development
    Nippon Rinsho . 2006
  42. ncbi Refined mapping of the gene for otopalatodigital syndrome type I
    T Kosho
    Department of Paediatrics, Keio University School of Medicine, Tokyo, Japan
    J Med Genet 39:E7. 2002
  43. ncbi Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
    J Biol Chem 283:5525-32. 2008
    ..We designate CXorf6 as MAMLD1 (mastermind-like domain-containing 1) based on its characteristic structure...
  44. ncbi Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    J Hum Genet 53:454-9. 2008
    ..The results suggest that cryptic SHOX intragenic deletions account for a small fraction of LWD and that microdeletions affecting SHOX can be generated by repeat-sequence-mediated aberrant recombinations and by nonhomologous end joining...
  45. ncbi [Kallmann syndrome]
    Naoko Sato
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development
    Nippon Rinsho . 2006
  46. ncbi Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column
    Kou Hayakawa
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 869:93-100. 2008
    ..This affinity-chromatographic method for biotin determination was shown to be a robust and reliable and is well suited for biochemical and nutritional research...
  47. ncbi 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...
  48. ncbi Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 3 35 31 Taishido, Setagaya, Tokyo 154 8567, Japan
    J Clin Endocrinol Metab 90:414-26. 2005
    ....
  49. ncbi Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion
    Sumito Dateki
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    J Clin Endocrinol Metab 95:4043-7. 2010
    ..However, copy number aberrations involving such genes have been poorly investigated in patients with CPHD...
  50. ncbi Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Mol Genet Metab 100:269-73. 2010
    ....
  51. ncbi Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients
    Naoko Sato
    National Research Institute for Child Health and Development, Tokyo 154 8567, Japan
    J Clin Endocrinol Metab 89:1079-88. 2004
    ....
  52. ncbi Determination of specific activities and kinetic constants of biotinidase and lipoamidase in LEW rat and Lactobacillus casei (Shirota)
    Kou Hayakawa
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Okura, Setagaya Ku, Tokyo 157 8535, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 844:240-50. 2006
    ..Therefore, this HPLC determination method for the enzyme kinetic parameters in tissues is expected to be an indispensable tool for the investigation of the various diseases in humans...
  53. ncbi Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients
    Maki Fukami
    Research Institute, National Center for Child Health and Development, Tokyo 157 8535, Japan
    J Clin Endocrinol Metab 94:1723-31. 2009
    ..Although multiple studies have been performed for this condition, several matters remain to be clarified, including the presence of manifesting heterozygosity and the underlying factors for clinical variability...
  54. ncbi Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR
    Kazuki Yamazawa
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, 157 8535, Japan
    J Hum Genet 53:950-5. 2008
    ....
  55. ncbi A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia
    Rie Yoshida
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 3-35-31 Taishido, Setagaya, Tokyo 154-8567, Japan
    Am J Med Genet A 128:63-6. 2004
    ..The results expand the spectrum of PTPN11 mutations in Noonan syndrome (NS), and suggest that a PTPN11 mutation leads to a wide range of clinical features of Noonan syndrome...
  56. ncbi SOX10 mutation in Waardenburg syndrome type II
    Manami Iso
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Am J Med Genet A 146:2162-3. 2008
  57. ncbi Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Eur J Endocrinol 149:337-41. 2003
    ....
  58. ncbi Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2
    Naoko Sato
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    Eur J Endocrinol 156:167-71. 2007
    ..Here, we report a further case with a heterozygous hypomorphic SOX2 mutation and isolated HH...
  59. ncbi Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Horm Res Paediatr 73:477-81. 2010
    ..Here, we report a Japanese female with IHH and compound heterozygous TACR3 mutations and her heterozygous parents, and discuss the primary lesion for IHH and clinical findings...
  60. ncbi Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son
    Naoko Sato
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan
    J Clin Endocrinol Metab 91:1415-8. 2006
    ..Such a somatic mutation occurs in some apparently FGFR1 mutation-negative KS patients with dental agenesis...
  61. ncbi Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype
    Sumito Dateki
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    J Clin Endocrinol Metab 95:756-64. 2010
    ..Conclusions: The results imply that OTX2 mutations are associated with variable pituitary phenotype, with no genotype-phenotype correlations, and that OTX2 can transactivate GNRH1 as well as HESX1 and POU1F1...
  62. ncbi An immunologically anomalous but considerably bioactive GH produced by a novel GH1 mutation (p.D116E)
    Sumito Dateki
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    Eur J Endocrinol 161:301-6. 2009
    ..CONTEX: Although GH values measured by an immunoassay usually reflect GH bioactivities, discrepancy exists between immunoactivity and bioactivity in a rare condition known as 'bioinactive GH'...
  63. ncbi FISH analysis for apparently simple terminal deletions of the X chromosome: identification of hidden structural abnormalities
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    Am J Med Genet 104:307-11. 2001
    ....
  64. ncbi Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH
    T Ishii
    Department of Paediatrics, Keio University School of Medicine, Tokyo, Japan
    Clin Endocrinol (Oxf) 53:389-92. 2000
    ..The present findings lend additional credence to the notions that adrenal androgens play an important role in female pubic hair development and that ovarian development takes place independently of adrenarche...
  65. ncbi Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation
    Rie Yoshida
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Pediatr Blood Cancer 50:1274-6. 2008
    ..This finding suggests the potential relevance of constitutively activated RAS/MAPK signaling in the development of hepatoblastoma...
  66. ncbi Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities
    Masanori Watanabe
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Hum Reprod 22:1279-84. 2007
    ....
  67. ncbi OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters
    Sumito Dateki
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    J Clin Endocrinol Metab 93:3697-702. 2008
    ..OTX2 is a transcription factor gene essential for eye development. Although recent studies suggest the involvement of OTX2 in pituitary function, there is no report demonstrating a positive role of OTX2 in the pituitary function...
  68. ncbi Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns
    Fumihiro Sugawa
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Fertil Steril 91:649-52. 2009
    ..The results suggest that short CAG repeats with a relatively high androgen receptor function may constitute a susceptibility factor for the development of POF...
  69. ncbi Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype
    Kana Hosoki
    Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Pediatr 155:900-903.e1. 2009
    ..To delineate the significance of maternal uniparental disomy 14 (upd(14)mat) and related disorders in patients with a Prader-Willi syndrome (PWS)-like phenotype...
  70. ncbi Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features
    Masayo Kagami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan
    Am J Med Genet A 138:127-32. 2005
    ..Furthermore, it is likely that the characteristic thoracic deformity ameliorates with age...
  71. ncbi Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation
    Koji Muroya
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet 110:332-7. 2002
    ..This is a novel mechanism put forward for the formation of a monocentric ring chromosome...
  72. ncbi Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1
    Yuka Wada
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Fertil Steril 85:787-90. 2006
    ..The results suggest that the Gly146Ala polymorphism may be a susceptibility factor for the development of cryptorchidism (CO)...
  73. ncbi Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors
    Rie Yoshida
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    J Clin Endocrinol Metab 90:4716-21. 2005
    ..Little is known, however, about the role of genetic susceptibility to EEDs in this phenomenon...
  74. ncbi Genitourinary phenotype in XX patients with distal 9p monosomy
    Yoko Fujimoto
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Mol Genet Metab 82:173-9. 2004
    ..In addition, it is possible that a gene(s) for anoperineal and renal development also maps distal to D9S168 and that for external genital development maps distal to D9S285 at the position approximately 16 Mb from the 9p telomere...
  75. ncbi Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Setagaya, Tokyo 154-8567, Japan
    Endocr J 50:319-24. 2003
    ....
  76. ncbi [Silver-Russell syndrome]
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development
    Nippon Rinsho . 2006
  77. ncbi Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins
    Masanori Watanabe
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Fertil Steril 82:1067-71. 2004
    ....
  78. ncbi Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1
    Yuka Wada
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo
    Endocr J 52:445-8. 2005
    ..The results suggest that the SF-1 Gly146Ala polymorphism may constitute a susceptibility factor for the development of S-MP, and that M-MP can be regarded as a normal variation in terms of the polymorphism effect...
  79. ncbi Impaired urinary water excretion in a three-generation family
    Y Tanaka
    Department of Pediatrics, Ichikawa General Hospital, Tokyo Dental College, Chiba, Japan
    Pediatr Nephrol 16:820-2. 2001
    ..2 +/- 7.8%). Urinary AQP2 excretion was normal, as was the DNA sequence of AVPR2 and AQP2. The results suggest the presence of a new dominantly inherited disorder for tubular water resorption...
  80. ncbi Egr-1 mRNA induction by medium flow involves mRNA stabilization and is enhanced by the p38 inhibitor SB203580 in osteoblast-like cells
    T Ogata
    Division of Advanced Molecular Medicine, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan
    Acta Physiol (Oxf) 194:177-88. 2008
    ....
  81. ncbi 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...
  82. ncbi Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation
    Koji Muroya
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo, Japan
    Endocr J 57:171-4. 2010
    ....
  83. ncbi [Noonan syndrome]
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development
    Nippon Rinsho . 2006
  84. ncbi The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia
    Fusako Komoda
    Department of Pediatrics, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan
    Pediatr Nephrol 19:728-33. 2004
    ..The present study demonstrates that homozygous W258X mutation is the predominant genetic cause of idiopathic renal hypouricemia in Japanese patients...
  85. ncbi Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation
    Kazumoto Iijima
    Department of Pediatrics, Division of Child Health and Development, Kobe University Graduate School of Medicine, 7 5 2 Kusunoki cho, Chuo Ku, Kobe, 650 0017, Japan
    Pediatr Nephrol 25:2165-70. 2010
    ..Chromosomal abnormalities should be considered in female patients with severe forms of Alport syndrome...
  86. ncbi [Gonadal dysgenesis in Turner syndrome]
    Tsutomu Ogata
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development
    Nippon Rinsho 62:321-6. 2004
    ....
  87. ncbi Characterization of the cloned promoter of the human initiation factor 4AI gene
    I Kukimoto
    Division of Molecular Genetics, National Institute of Infectious Disease, Tokyo, Japan
    Biochem Biophys Res Commun 233:844-7. 1997
    ....
  88. ncbi Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants
    Maki Fukami
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    J Clin Endocrinol Metab 96:E1035-43. 2011
    ..Although cryptic inversions leading to abnormal fusions between CYP19A1 encoding aromatase and its neighboring genes have been identified in a few patients, the molecular basis remains largely unknown...
  89. ncbi 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...
  90. ncbi Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
    Yuichiro Hirose
    Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
    J Hum Genet 51:706-10. 2006
    ..Through this analysis, we have identified a unique mutation spectrum and founder mutations in the Japanese population...
  91. ncbi Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
    Kunio Kitamura
    Mitsubishi Kagaku Institute of Life Sciences, 11 Minamiooya, Machida, Tokyo 194 8511, Japan
    Nat Genet 32:359-69. 2002
    ..The present report is, to our knowledge, the first to use phenotypic analysis of a knockout mouse to identify a gene associated with an X-linked human brain malformation...
  92. ncbi Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome
    Rie Yoshida
    Am J Med Genet A 130:432-4. 2004
  93. ncbi Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta
    Yoichi Sekita
    Department of Epigenetics, Medical Research Institute, Tokyo Medical and Dental University, 2 3 10 Kandasurugadai, Chiyoda ku, Tokyo 101 0062, Japan
    Nat Genet 40:243-8. 2008
    ....
  94. ncbi Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer
    Maki Fukami
    Am J Hum Genet 78:167-70. 2006
  95. ncbi Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4
    Kentaro Suzuki
    Center for Animal Resources and Development, Graduate School of Medical and Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan
    Eur J Hum Genet 16:36-44. 2008
    ..These results suggest that different genes associated with human SHFM could also be involved in the aetiogenesis of hypospadias pointing toward a common molecular origin of these congenital malformations...
  96. ncbi Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature
    Gudrun A Rappold
    Institute of Human Genetics, University of Heidelberg, 69120 Heidelberg, Germany
    J Clin Endocrinol Metab 87:1402-6. 2002
    ....
  97. ncbi Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases
    Manuela Morleo
    Telethon Institute of Genetics and Medicine (TIGEM, Via Pietro Castellino 111, 80131 Naples, Italy
    Am J Med Genet A 137:190-8. 2005
    ..These patients made it possible to undertake mutation screening of candidate genes and may prove critical for the identification of the gene responsible for this challenging and intriguing genetic disease...
  98. ncbi [HDR syndrome (GATA3 haploinsufficiency syndrome)]
    Takahiro Mochizuki
    Department of Pediatrics, Child Health and Medical Center, Osaka City General Hospital
    Nippon Rinsho . 2006
  99. ncbi Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST
    Masayo Kagami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    J Assist Reprod Genet 24:131-6. 2007
    ....
  100. ncbi Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation
    Masahiro Goto
    Am J Med Genet A 140:1013-5. 2006
  101. ncbi Genomic imprinting at the mammalian Dlk1-Dio3 domain
    Simao Teixeira da Rocha
    Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3EG, UK
    Trends Genet 24:306-16. 2008
    ..Here, we discuss the function and regulation of imprinting at this domain...