Rchr
J-GLOBAL ID:201901001726973395   Update date: Jul. 25, 2021

Tomoko Uehara

Tomoko Uehara
Research field  (1): Medical biochemistry
Research keywords  (3): Pathogenecity ,  C.elegans ,  Clinical genetics
Research theme for competitive and other funds  (2):
  • 2020 - 2022 線虫を用いたCNOT2遺伝子の正常神経発生における役割解明
  • 2016 - 2018 CDC42遺伝子異常症の病態解明
Papers (74):
  • Tomoko Uehara, Rikako Sanuki, Yurie Ogura, Atsushi Yokoyama, Takeshi Yoshida, Hiroshi Futagawa, Hiroshi Yoshihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, et al. Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles. American journal of medical genetics. Part A. 2021. 185. 7. 2084-2093
  • Mamiko Yamada, Michinori Funato, Goro Kondo, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Yoshiaki Sakamoto, Kenjiro Kosaki. Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant. Congenital anomalies. 2021
  • Kimiko Ueda, Atsushi Araki, Atsushi Fujita, Naomichi Matsumoto, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Nobuhiko Okamoto. A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30. Human genome variation. 2021. 8. 1. 24-24
  • Eriko Nishi, Tomoko Uehara, Kumiko Yanagi, Yuiko Hasegawa, Kimiko Ueda, Tadashi Kaname, Toshiyuki Yamamoto, Kenjiro Kosaki, Nobuhiko Okamoto. Clinical spectrum of individuals with de novo EBF3 variants or deletions. American journal of medical genetics. Part A. 2021
  • Norine Voisin, Rhonda E Schnur, Sofia Douzgou, Susan M Hiatt, Cecilie F Rustad, Natasha J Brown, Dawn L Earl, Boris Keren, Olga Levchenko, Sinje Geuer, et al. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. American journal of human genetics. 2021. 108. 5. 857-873
more...
MISC (92):
Association Membership(s) (5):
JAPANESE SOCIETY OF NEPHROLOGY ,  THE JAPANESE SOCIETY FOR PEDIATRIC NEPHROLOGY ,  日本小児遺伝学会 ,  JAPAN PEDIATRIC SOCIETY ,  THE JAPAN SOCIETY OF HUMAN GENETICS
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