Zobrazeno 1 - 10
of 146
pro vyhledávání: '"Noriyuki Namba"'
Autor:
Yuki Kawashima-Sonoyama, Keisuke Wada, Kei Yamamoto, Masanobu Fujimoto, Noriyuki Namba, Takeshi Taketani
Publikováno v:
Endocrine Journal, Vol 71, Iss 7, Pp 687-694 (2024)
Short stature with IGF-1 receptor (IGF1R) gene alteration is known as small-for-gestational-age (SGA) short stature with elevated serum IGF1 levels. Its prevalence and clinical characteristics remain unclear. No adapted treatment is available for sho
Externí odkaz:
https://doaj.org/article/ae4200e683cb4784a31394e6cc26d5e8
Autor:
Craig F Munns, Han‐Wook Yoo, Muhammad Yazid Jalaludin, Rashida Vasanwala, Manju Chandran, Yumie Rhee, Wai Man BUT, Alice Pik‐Shan Kong, Pen‐Hua Su, Nawaporn Numbenjapon, Noriyuki Namba, Yasuo Imanishi, Roderick J Clifton‐Bligh, Xiaoping Luo, Weibo Xia
Publikováno v:
JBMR Plus, Vol 7, Iss 6, Pp n/a-n/a (2023)
ABSTRACT X‐linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia that occurs secondary to renal phosphate wasting. Mutations in PHEX gene (located at Xp22.1) in XLH alter bone mineral metabolism,
Externí odkaz:
https://doaj.org/article/738ef1c63308428f943cc4cf638b2ada
Autor:
Kenji Fukushima, Noriko Itaba, Yohei Kono, Shizuma Okazaki, Shinpei Enokida, Naomi Kuranobu, Jun Murakami, Makoto Enokida, Hideki Nagashima, Susumu Kanzaki, Noriyuki Namba, Goshi Shiota
Publikováno v:
Regenerative Therapy, Vol 18, Iss , Pp 292-301 (2021)
Introduction: Transplantation of IC-2-engineered bone marrow-derived mesenchymal stem cell (BM-MSC) sheets (IC-2 sheets) was previously reported to potentially reduce liver fibrosis. Methods: This study prepared IC-2-engineered cell sheets from multi
Externí odkaz:
https://doaj.org/article/dfaf0d99d4714e739e58694435bddca1
Autor:
Yuki Kawashima-Sonoyama, Keisuke Okuno, Tomotsune Dohmoto, Kanako Tanase-Nakao, Satoshi Narumi, Noriyuki Namba
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially
Externí odkaz:
https://doaj.org/article/62f1f29e2ac4411caaa6ff479889244e
Autor:
Takuo Kubota, Seiji Fukumoto, Hae Il Cheong, Toshimi Michigami, Noriyuki Namba, Nobuaki Ito, Shin Tokunaga, Yoshimi Gibbs, Keiichi Ozono
Publikováno v:
BMJ Open, Vol 10, Iss 6 (2020)
Introduction X-linked hypophosphataemic rickets/osteomalacia (XLH) is a chronic, debilitating genetic disease characterised by skeletal abnormalities and growth disorder. The burden of XLH begins in childhood and continues throughout life. Convention
Externí odkaz:
https://doaj.org/article/7108ef20d7bb4e1a80cfc910d8da35ab
Autor:
Hiroki Yokoyama, Mayumi Sakaguchi, Yuko Yamada, Koichi Kitamoto, Shinichi Okada, Susumu Kanzaki, Noriyuki Namba
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease causing renal cysts. Reports on kidney cyst infection in children are rare despite cyst infections being important complications of ADPKD. Here, we report a case
Externí odkaz:
https://doaj.org/article/bd8950117d424b51978b24b283c1f023
Autor:
Mayuko Tamura, Tsuyoshi Isojima, Minae Kawashima, Hideki Yoshida, Keiko Yamamoto, Taichi Kitaoka, Noriyuki Namba, Akira Oka, Keiichi Ozono, Katsushi Tokunaga, Sachiko Kitanaka
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0131157 (2015)
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by biallelic mutations in the vitamin D receptor (VDR) gene. No patients have been reported with uniparental disomy (UPD).Using genome-wide single n
Externí odkaz:
https://doaj.org/article/200728080e524ba698b978d988dc6c12
Autor:
Kohji Miura, Noriyuki Namba, Makoto Fujiwara, Yasuhisa Ohata, Hidekazu Ishida, Taichi Kitaoka, Takuo Kubota, Haruhiko Hirai, Chikahisa Higuchi, Noriyuki Tsumaki, Hideki Yoshikawa, Norio Sakai, Toshimi Michigami, Keiichi Ozono
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e42180 (2012)
We describe a three-generation family with tall stature, scoliosis and macrodactyly of the great toes and a heterozygous p.Val883Met mutation in Npr2, the gene that encodes the CNP receptor NPR2 (natriuretic peptide receptor 2). When expressed in HEK
Externí odkaz:
https://doaj.org/article/7666ccd6a6b84b47b4c07294efaeea88
Autor:
Yoichi Mino, Fumiko Miyahara, Mazumi Miura, Aya Imamoto, Hiromi Fujii, Chisaki Moriwaki, Kazuki Yoshioka, Noriyuki Namba
Publikováno v:
Yonago Acta Medica; 2024, Vol. 67 Issue 2, p150-156, 7p
Autor:
Keiichi Hanaki, Tomoe Kinoshita, Masanobu Fujimoto, Yuki Sonoyama-Kawashima, Susumu Kanzaki, Noriyuki Namba
Publikováno v:
Yonago Acta Medica; 2024, Vol. 67 Issue 2, p93-99, 7p