Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Mie Hayashi"'
Autor:
Hirohito Shima, Mie Hayashi, Takashi Tachibana, Makoto Oshiro, Naoko Amano, Tomohiro Ishii, Hidenori Haruna, Maki Igarashi, Masafumi Kon, Ryuji Fukuzawa, Yukichi Tanaka, Maki Fukami, Tomonobu Hasegawa, Satoshi Narumi
Publikováno v:
PLoS ONE, Vol 13, Iss 11, p e0206184 (2018)
BACKGROUND:MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, describes a constellation of clinical features including 46,XY disorders of sex development (DSD), small for gestational age (SGA) and adrenal insufficien
Externí odkaz:
https://doaj.org/article/16e20c22f7da4c5fbb796d884bad9e82
Autor:
Yumi Asakura, Tomonobu Hasegawa, Koji Muroya, Yuya Ogawa, Miho Terao, Shuji Takada, Satoshi Narumi, Maki Fukami, Mie Hayashi, Tomohiro Ishii, Kikumi Ushijima, Ryohei Sekido
Publikováno v:
American Journal of Medical Genetics Part A. 185:1067-1075
SOX9, a transcription factor, is expressed in the undifferentiated XX and XY gonads. SRY induces significant upregulation of SOX9 expression in XY gonads. Loss-of-function SOX9 variants cause testicular dysgenesis in 46,XY patients, while duplication
Autor:
Kikumi, Ushijima, Yuya, Ogawa, Miho, Terao, Yumi, Asakura, Koji, Muroya, Mie, Hayashi, Tomohiro, Ishii, Tomonobu, Hasegawa, Ryohei, Sekido, Maki, Fukami, Shuji, Takada, Satoshi, Narumi
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(4)
SOX9, a transcription factor, is expressed in the undifferentiated XX and XY gonads. SRY induces significant upregulation of SOX9 expression in XY gonads. Loss-of-function SOX9 variants cause testicular dysgenesis in 46,XY patients, while duplication
Autor:
Satoshi Narumi, Keiko Homma, Tomonobu Hasegawa, Kazuhide Imai, Mie Hayashi, Tomohiro Ishii, Naoko Amano, Toshirou Nakamura, Masaki Takagi, Rumi Hachiya, Goro Sasaki
Publikováno v:
European Journal of Endocrinology. 177:187-194
Context Most patients with pediatric-onset primary adrenal insufficiency (PAI), such as 21-hydroxylase deficiency, can be diagnosed by measuring the urine or serum levels of steroid metabolites. However, the etiology is often difficult to determine i
Autor:
Kikumi Ushijima, Yuya Ogawa, Miho Terao, Yumi Asakura, Koji Muroya, Mie Hayashi, Tomohiro Ishii, Tomonobu Hasegawa, Ryohei Sekido, Maki Fukami, Shuji Takada, Satoshi Narumi
Publikováno v:
American Journal of Medical Genetics. Part A; Apr2021, Vol. 185 Issue 4, p1067-1075, 9p
Publikováno v:
Urology. 76:97-100
Objectives To define the responses of stretched penile length (PL) to intramuscular testosterone enanthate (TE) treatment in prepubertal boys with hypospadias. Methods We examined 17 Japanese boys with hypospadias at 1.4 ± 1.3 (mean ± SD) years of
Autor:
Chiharu Mukai, Kentaro Sakai, Masayuki Yamato, Fusao Ota, Masayuki Ota, Shigeru Yamamoto, Ahmed Sherin, Tetsuro Koga, Mie Hayashi
Publikováno v:
Microbiological Research. 157:305-310
Twenty four reference strains (serotype a-h) belonging to the mutans group of streptococci were compared for DNA fragment patterns of rDNA after treatment with Hind III. It was shown that Streptococcus cricetus (serotype a), S. rattus (serotype b), a
Publikováno v:
Microbiological Research. 152:87-92
Three EIA methods (Direct, Indirect and Sandwich EIA) were studied to quantify spirosin in Lactobacillus reuteri and Escherichia coli cultured under various conditions in an attempt to get some insight into the function of spirosome. Both Direct and
Autor:
Yuko Taniguchi, Mie Hayashi, Keiko Homma, Naoko Amano, Tomonobu Hasegawa, Koji Muroya, Rika Kizu, Hiroki Matsuura, Hiroshi Mochizuki, Satoshi Narumi
Publikováno v:
International Journal of Pediatric Endocrinology
Our objective is to estimate frequencies of mutations in STAR, CYP11A1, NR0B1, NR5A1, MC2R, and MRAP in a cohort of Japanese patients with primary adrenal failure without enzymatic defects. Twenty-one patients were included, who were diagnosed as hav