Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Naoko Amano"'
Autor:
Yuko Shirouchi, Kazumi Kaihara, Tsunaki Sekita, Naoko Amano, Konosuke Nakayama, Kazunori Miyake, Hitoshi Abe, Hirotoshi Oinuma, Dai Maruyama
Publikováno v:
Cancer Medicine, Vol 13, Iss 16, Pp n/a-n/a (2024)
Abstract Background Immunofixation electrophoresis (IFE) is the standard method for confirming the presence of a monoclonal protein (M‐protein) at multiple myeloma (MM) diagnosis. IFE is also essential at assessment of complete response (CR) and st
Externí odkaz:
https://doaj.org/article/fe7b00a305a04d63ae57a9652c70c1c5
Autor:
Il Tae Hwang, Yusuke Mizuno, Naoko Amano, Hye Jin Lee, Young Suk Shim, Hyo‐Kyoung Nam, Young‐Jun Rhie, Seung Yang, Kee‐Hyoung Lee, Tomonobu Hasegawa, Min Jae Kang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background C‐type natriuretic peptide (CNP, NPPC) and its receptor, natriuretic peptide receptor‐B (NPR‐B, NPR2), are critical for endochondral ossification. A monoallelic NPR2 mutation has been suggested to mildly impair long bone gro
Externí odkaz:
https://doaj.org/article/a293c706d6ac41e5b81f16426a87aae7
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:
Masaki Takagi, Tomohiro Ishii, Mikako Inokuchi, Naoko Amano, Satoshi Narumi, Yumi Asakura, Koji Muroya, Yukihiro Hasegawa, Masanori Adachi, Tomonobu Hasegawa
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e46008 (2012)
Mutations in transcription factors genes, which are well regulated spatially and temporally in the pituitary gland, result in congenital hypopituitarism (CH) in humans. The prevalence of CH attributable to transcription factor mutations appears to be
Externí odkaz:
https://doaj.org/article/f96a920051ff49bd8d5b227cad431327
Autor:
Masaki Takagi, Tomohiro Ishii, Aileen M Barnes, Maryann Weis, Naoko Amano, Mamoru Tanaka, Ryuji Fukuzawa, Gen Nishimura, David R Eyre, Joan C Marini, Tomonobu Hasegawa
Publikováno v:
PLoS ONE, Vol 7, Iss 5, p e36809 (2012)
Prolyl 3-hydroxylase 1 (P3H1), encoded by the LEPRE1 gene, forms a molecular complex with cartilage-associated protein (CRTAP) and cyclophilin B (encoded by PPIB) in the endoplasmic reticulum (ER). This complex is responsible for one step in collagen
Externí odkaz:
https://doaj.org/article/0d93908116af42a4875fa8c97b151bee
Publikováno v:
Current Opinion in Pediatrics; Aug2024, Vol. 36 Issue 4, p455-462, 7p
Autor:
Naoko Amano, Satoshi Narumi, Katsuya Aizu, Mari Miyazawa, Kohji Okamura, Hirofumi Ohashi, Noriyuki Katsumata, Tomohiro Ishii, Tomonobu Hasegawa
Publikováno v:
Journal of Clinical Endocrinology & Metabolism; Mar2024, Vol. 109 Issue 3, p641-648, 8p
Autor:
Akari Nakamura-Utsunomiya, Yukihiro Hasegawa, Kei Takasawa, Tomohiro Ishii, Tomonobu Hasegawa, Toshihiro Tajima, Naoko Amano, Shinobu Ida
Publikováno v:
Endocrine Journal. 69:75-83
To manage of 21-hydroxylase deficiency (21-OHD), transition medicine from pediatric to adult health care is an important process and requires individually optimized approaches. We sent cross-sectional questionnaire surveys on the current status of tr
Autor:
Naoko Amano1,2 naokoam@z8.keio.jp, Hiroshi Kitoh3, Satoshi Narumi4, Gen Nishimura5, Tomonobu Hasegawa1
Publikováno v:
Clinical Pediatric Endocrinology. 2020, Vol. 29 Issue 3, p99-103. 5p.
Publikováno v:
Clinical Pediatric Endocrinology. 29:99-103
Acromesomelic dysplasia, type Maroteaux (AMDM) is a congenital bone dysplasia characterized by disproportionate, acromesomelic shortening of the limbs and mild spondylar dysplasia. AMDM is caused by biallelic loss-of-function mutations in NPR2 encodi