Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Rini Rossanti"'
Autor:
Rizky Ramdhani, Akhmad Mustafa, Safendra Siregar, Jupiter Sibarani, Tjahjodjati Tjahjodjati, Ahmedz Widiasta, Rini Rossanti
Publikováno v:
Urology Case Reports, Vol 51, Iss , Pp 102623- (2023)
The incidence of nephrolithiasis in children ranges from 5 to 10% in developing countries. Etiology of nephrolithiasis in children remains largely unknown, so metabolic evaluation is indicated in all case, because of potential morbidity and recurrenc
Externí odkaz:
https://doaj.org/article/b5cc9d6a8e7442c8a9f71a77844899e8
Autor:
Eri Okada, Naoya Morisada, Tomoko Horinouchi, Hideki Fujii, Takayuki Tsuji, Masayoshi Miura, Hideyuki Katori, Masashi Kitagawa, Kunio Morozumi, Takanobu Toriyama, Yuki Nakamura, Ryuta Nishikomori, Sadayuki Nagai, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Kazumoto Iijima, Toshiyuki Imasawa, Kandai Nozu
Publikováno v:
Kidney International Reports, Vol 8, Iss 5, Pp 1127-1129 (2023)
Externí odkaz:
https://doaj.org/article/37e1c3d208844abb9d9ce462794fe8ea
Autor:
Atsushi Kondo, China Nagano, Shinya Ishiko, Takashi Omori, Yuya Aoto, Rini Rossanti, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Sadayuki Nagai, Eri Okada, Yuko Shima, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Hiroki Takeda, Hiroaki Nagase, Naoya Morisada, Kazumoto Iijima, Kandai Nozu
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Gitelman syndrome is an autosomal recessive inherited salt-losing tubulopathy. It has a prevalence of around 1 in 40,000 people, and heterozygous carriers are estimated at approximately 1%, although the exact prevalence is unknown. We estima
Externí odkaz:
https://doaj.org/article/5fc68a8e0cd1447396ba7d10c59cf739
Autor:
Tomohiko Yamamura, Tomoko Horinouchi, Tomomi Adachi, Maki Terakawa, Yutaka Takaoka, Kohei Omachi, Minoru Takasato, Kiyosumi Takaishi, Takao Shoji, Yoshiyuki Onishi, Yoshito Kanazawa, Makoto Koizumi, Yasuko Tomono, Aki Sugano, Akemi Shono, Shogo Minamikawa, China Nagano, Nana Sakakibara, Shinya Ishiko, Yuya Aoto, Misato Kamura, Yutaka Harita, Kenichiro Miura, Shoichiro Kanda, Naoya Morisada, Rini Rossanti, Ming Juan Ye, Yoshimi Nozu, Masafumi Matsuo, Hirofumi Kai, Kazumoto Iijima, Kandai Nozu
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
Alport syndrome is a progressive inherited nephritis accompanied by sensorineural loss of hearing and ocular abnormalities, for which there is currently no effective therapy. Here, the authors develop an exon-skipping therapy using an antisense-oligo
Externí odkaz:
https://doaj.org/article/165df2dbd3f44073aaae13fc966489b5
Autor:
Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the
Externí odkaz:
https://doaj.org/article/1ef35ddb885b45829121b2c1cd74c07a
Autor:
Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, Tomoko Horinouchi, Nana Sakakibara, China Nagano, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Rini Rossanti, Ming J. Ye, Yoshimi Nozu, Shingo Ishimori, Naoya Morisada, Hiroshi Kaito, Kazumoto Iijima
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐line diagnostic tool for AS. However, no reports comparing mutation identificati
Externí odkaz:
https://doaj.org/article/e2c64ef35b604169a6eefe33ff296b50
Publikováno v:
Paediatrica Indonesiana, Vol 55, Iss 5, Pp 277-81 (2015)
Background Obesity in adolescents is a major health problem and has been associated with low academic achievement. Brainderived neurotrophic factor (BDNF), a neurotrophin, plays a role in appetite suppression and memory, and its secretion is enhanced
Externí odkaz:
https://doaj.org/article/c5cd05c1b8d046b78858152396fd0147
Autor:
Eri Okada, Naoya Morisada, Tomoko Horinouchi, Hideki Fujii, Takayuki Tsuji, Masayoshi Miura, Hideyuki Katori, Masashi Kitagawa, Kunio Morozumi, Takanobu Toriyama, Yuki Nakamura, Ryuta Nishikomori, Sadayuki Nagai, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Kazumoto Iijima, Toshiyuki Imasawa, Kandai Nozu
Publikováno v:
Kidney International Reports. 7(4):857-866
Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD)-MUC1 is predominantly caused by frameshift mutations owing to a single-base insertion into the variable number tandem repeat (VNTR) region in MUC1. Because of the complexity o
Autor:
Nana Sakakibara, Kandai Nozu, Tomohiko Yamamura, Tomoko Horinouchi, China Nagano, Ming Juan Ye, Shinya Ishiko, Yuya Aoto, Rini Rossanti, Riku Hamada, Nobuhiko Okamoto, Yuko Shima, Koichi Nakanishi, Masafumi Matsuo, Kazumoto Iijima, Naoya Morisada
Publikováno v:
Journal of Human Genetics. 67:427-440
Nephronophthisis is an autosomal-recessive kidney disease that is caused by abnormalities in primary cilia. Nephronophthisis-related ciliopathies (NPHP-RCs) are a common cause of end-stage kidney disease (ESKD) in children and adolescents. NPHP-RCs a
Autor:
China Nagano, Koichi Nakanishi, Tomohiko Yamamura, Takeshi Ninchoji, Hiroshi Kaito, Rini Rossanti, Masafumi Matsuo, Yuko Shima, Sadayuki Nagai, Kazumoto Iijima, Riku Hamada, Yuya Aoto, Naoya Morisada, Nana Sakakibara, Shinya Ishiko, Eri Okada, Tomoko Horinouchi, Atsushi Kondo, Kandai Nozu
Publikováno v:
Clinical and Experimental Nephrology
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered. We aimed to analyze the clinical features of genetically diagnosed ARP