S Uehara

Summary

Affiliation: Tohoku University
Country: Japan

Publications

  1. ncbi request reprint Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet 99:196-9. 2001
  2. ncbi request reprint Complete XY gonadal dysgenesis and aspects of the SRYgenotype and gonadal tumor formation
    Shigeki Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 47:279-84. 2002
  3. ncbi request reprint Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet 86:107-11. 1999
  4. ncbi request reprint Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Fertil Steril 76:908-14. 2001
  5. ncbi request reprint X chromosome inactivation patterns in 45,X/46,XX mosaics
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University, School of Medicine, Sendai, Japan
    J Hum Genet 46:126-31. 2001
  6. ncbi request reprint X-chromosome inactivation in the human trophoblast of early pregnancy
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 45:119-26. 2000
  7. ncbi request reprint Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17alpha-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Tohoku J Exp Med 190:279-87. 2000
  8. ncbi request reprint Characterization of messenger RNA expression of estrogen receptor-alpha and -beta in patients with ovarian endometriosis
    S Matsuzaki
    Tohoku University School of Medicine, Sendai, Japan
    Fertil Steril 73:1219-25. 2000
  9. ncbi request reprint Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative study of 5484 cases
    N Yaegashi
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 43:85-90. 1998
  10. ncbi request reprint Quantitative analysis of estrogen receptor alpha and beta messenger ribonucleic acid levels in normal endometrium and ovarian endometriotic cysts using a real-time reverse transcription-polymerase chain reaction assay
    S Matsuzaki
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Fertil Steril 74:753-9. 2000

Detail Information

Publications22

  1. ncbi request reprint Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet 99:196-9. 2001
    ..Analysis of digestion patterns with a methylation-sensitive restriction endonuclease of the phosphoglycerate kinase 1 gene, located in Xq13.3, indicated that its inactivation patterns were completely skewed...
  2. ncbi request reprint Complete XY gonadal dysgenesis and aspects of the SRYgenotype and gonadal tumor formation
    Shigeki Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 47:279-84. 2002
    ..Moreover, our results suggest that clinicians should carefully examine patients with SRY abnormalities...
  3. ncbi request reprint Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet 86:107-11. 1999
    ..e., uniparental isodisomy at least for Xq, and carry the same mutations in the androgen receptor gene. This explains how complete androgen insensitivity syndrome occurred in this 47,XXY individual...
  4. ncbi request reprint Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Fertil Steril 76:908-14. 2001
    ..To determine whether preferential X-chromosome inactivation (P-XCI) relates to idiopathic recurrent pregnancy loss...
  5. ncbi request reprint X chromosome inactivation patterns in 45,X/46,XX mosaics
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University, School of Medicine, Sendai, Japan
    J Hum Genet 46:126-31. 2001
    ....
  6. ncbi request reprint X-chromosome inactivation in the human trophoblast of early pregnancy
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 45:119-26. 2000
    ..It is probable that transcription of the X inactivation center (XIC) begins earlier in mice than in humans...
  7. ncbi request reprint Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17alpha-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Tohoku J Exp Med 190:279-87. 2000
    ..Since these mutations could be screened by a multiple genotyping method, the method is applicable when 17alpha-hydroxylase/17, 20-lyase deficiency is suspected in Japanese patients...
  8. ncbi request reprint Characterization of messenger RNA expression of estrogen receptor-alpha and -beta in patients with ovarian endometriosis
    S Matsuzaki
    Tohoku University School of Medicine, Sendai, Japan
    Fertil Steril 73:1219-25. 2000
    ..CONCLUSION(s): The results suggest that predominant expression of ER-alpha in both glandular epithelial and stromal cells may be essential to the development and growth of ovarian endometriosis...
  9. ncbi request reprint Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative study of 5484 cases
    N Yaegashi
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 43:85-90. 1998
    ..The incidence of trisomy 21 is not different from the rates published previously for Western countries. The incidences of chromosome abnormalities are not affected by race or by geographic factors...
  10. ncbi request reprint Quantitative analysis of estrogen receptor alpha and beta messenger ribonucleic acid levels in normal endometrium and ovarian endometriotic cysts using a real-time reverse transcription-polymerase chain reaction assay
    S Matsuzaki
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Fertil Steril 74:753-9. 2000
    ..To quantify messenger RNA (mRNA) levels of the two estrogen receptor isoforms, estrogen receptor-alpha (ER-alpha) and estrogen receptor-beta (ER-beta) in the eutopic endometrium and ovarian endometriotic cysts...
  11. ncbi request reprint Induction of endometrial cycles and ovulation in a woman with combined 17alpha-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the p45017alpha gene
    S Matsuzaki
    Tohoku University School of Medicine, Sendai, Japan
    Fertil Steril 73:1183-6. 2000
    ..CONCLUSION(s): Ovulation induction was possible in this patient with 17alpha-hydroxylase/17,20-lyase deficiency, but the endometrial response to steroid hormone replacement was extremely poor...
  12. ncbi request reprint Transforming growth factor-beta isoforms and receptors in endometriotic cysts of the human ovary
    M Tamura
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Am J Reprod Immunol 42:160-7. 1999
    ....
  13. ncbi request reprint Observed versus expected rates of unbalanced fetal karyotype at second trimester amniocentesis when one parent carries a balanced translocation
    N Yaegashi
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Gynecol Obstet Invest 51:85-91. 2001
    ..Although the model is useful in estimating individual empirical risks, it may be necessary to consider the type of ascertainments and add some modifications to calculate the risks in the second trimester...
  14. ncbi request reprint Erythropoietin concentrations are elevated in the peritoneal fluid of women with endometriosis
    S Matsuzaki
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Hum Reprod 16:945-8. 2001
    ..03), III (n = 13, 8.4 +/- 1.0 mIU/ml, P < 0.01), IV disease (n = 7, 7.5 +/- 1.0 mIU/ml, P < 0.01). These data suggest that Epo may play a role in the pathogenesis of endometriosis particularly in the initiation of the disease...
  15. ncbi request reprint Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome
    N Yaegashi
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Tohoku J Exp Med 187:263-72. 1999
    ..These data on mutations that have not been reported previously, provide valuable information for the further characterization of structural and functional relationships in the steroid-binding domain of the AR protein...
  16. ncbi request reprint Microsatellite instability in gonadal tumors of XY pure gonadal dysgenesis patients
    Tadao Funato
    Division of Molecular Diagnostics, Department of Clinical Medicine, Tohoku University School of Medicine, Seiryoumachi 1 1, Aoba ku, Sendai 980 8574, Japan
    Int J Gynecol Cancer 12:192-7. 2002
    ..It is suggested therefore that microsatellite instability plays an important role in malignant transformation of gonadal tumors in patients with XY pure gonadal dysgenesis...
  17. ncbi request reprint Expression of estrogen receptor alpha and beta in peritoneal and ovarian endometriosis
    S Matsuzaki
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Fertil Steril 75:1198-205. 2001
    ..To quantify and compare messenger RNA (mRNA) levels of ER-alpha and ER-beta among ovarian endometriotic cysts and red and black peritoneal endometriotic lesions...
  18. ncbi request reprint CpG dinucleotide methylation patterns in the human androgen receptor gene and X-chromosome inactivation in peripheral blood leukocytes of phenotypically normal women
    Kazuyo Sato
    Department of Obstetrics and Gynecology, Tohoku University Graduate School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 48:374-9. 2003
    ..Since excessive skewing of XCI was observed in 11-12% of women, female carriers of an X-linked hereditary disease manifest its clinical symptoms or signs possibly in maximum 5-6%...
  19. ncbi request reprint Genetic significance of skewed X-chromosome inactivation in premature ovarian failure
    Kazuyo Sato
    Department of Obstetrics and Gynecology, Tohoku University Graduate School of Medicine, Sendai, Japan
    Am J Med Genet A 130:240-4. 2004
    ..Furthermore, extremely skewed XCI (> or =90%) was observed only in group I. These results indicate that POF may be caused by some underlying genetic disorders, which may induce skewed XCI...
  20. ncbi request reprint Detection of a biorhythm of human fetal autonomic nervous activity by a power spectral analysis
    T Suzuki
    Department of Obstetrics and Gynecology, Tohoku University Graduate School of Medicine, Sendai, Japan
    Am J Obstet Gynecol 185:1247-52. 2001
    ..In contrast, these rhythms were not observed in the hypoxemic fetuses. In the mothers, only the 24-hour rhythm was observed. CONCLUSION: The 12-hour cycle of autonomic nervous activity is present in normal fetuses...
  21. pmc Molecular epidemiological study of Haemophilus influenzae serotype b strains obtained from children with meningitis in Japan
    T Mitsuda
    Division of Clinical Laboratory Medicine, School of Medicine, Yokohama City University, 3 9 Fukuura, Kanazawa Ku, Yokohama City, 236 0004, Japan
    J Clin Microbiol 37:2548-52. 1999
    ..The genotyping of clinically isolated Hib strains may help to elucidate transmission routes in community infections, endemicity, and the reasons for vaccine failure...
  22. ncbi request reprint Impaired vitamin A-mediated mucosal IgA response in IL-5 receptor-knockout mice
    T Nikawa
    Department of Nutrition, School of Medicine, University of Tokushima, 3 18 15 Kuramoto cho, Tokushima 770 8503, Japan
    Biochem Biophys Res Commun 285:546-9. 2001
    ..4 mg of CT. However, retinyl acetate failed to induce resistance to CT toxicity in IL-5Ralpha(-/-) mice. Our results suggest that IL-5 may play an important role in an action of vitamin A on mucosal IgA system...