T
Tsugunori Notomi
Researcher at Osaka University
Publications - 2
Citations - 350
Tsugunori Notomi is an academic researcher from Osaka University. The author has contributed to research in topics: Gene & Reverse transcriptase. The author has an hindex of 2, co-authored 2 publications receiving 340 citations.
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Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.
Ke-ita Tatsumi,Kiyoshi Miyai,Tsugunori Notomi,Kyoko Kaibe,Nobuyuki Amino,Yuji Mizuno,Hitoshi Kohno +6 more
TL;DR: An entirely new case of cretinism showing combined pituitary hormone deficiencies of thyrotropin, growth hormone and prolactin that appears to be caused by homozygosity for a nonsense mutation in the gene for the Pit-1/GHF-1, the first report in humans of a defect in a transcription activator causing deficiency of multiple target genes.
Journal ArticleDOI
Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1
TL;DR: The predicted human Pit-1/GHF-1 peptide structure has 291 amino acids and is highly conserved among mouse, rat and bovine.