Search Results - "Nagai, Sadayuki"

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    Bilateral Renal Hypoplasia with High β2-Microglobulinuria in the Neonatal Period by Nagai, Sadayuki, Fujioka, Kazumichi, Minamikawa, Shogo, Nozu, Kandai, Iijima, Kazumoto

    “…Urinary β2 microglobulin (β2-MG) is a low-molecular-weight protein that is filtered by the glomerular basement membrane and absorbed by the proximal tubule…”
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    Journal Article
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    Clinical and pathological investigation of oligomeganephronia by Kitakado, Hideaki, Horinouchi, Tomoko, Masuda, Chika, Kondo, Atsushi, Nagai, Sadayuki, Aoto, Yuya, Sakakibara, Nana, Ninchoji, Takeshi, Yoshikawa, Norishige, Nozu, Kandai

    Published in Pediatric nephrology (Berlin, West) (01-03-2023)
    “…Background Oligomeganephronia (OMN) is a rare congenital anomaly involving the kidney and urinary tract, characterized by decreased number and compensatory…”
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    Detecting pathogenic deep intronic variants in Gitelman syndrome by Rossanti, Rini, Horinouchi, Tomoko, Sakakibara, Nana, Yamamura, Tomohiko, Nagano, China, Ishiko, Shinya, Aoto, Yuya, Kondo, Atsushi, Nagai, Sadayuki, Awano, Hiroyuki, Nagase, Hiroaki, Matsuo, Masafumi, Iijima, Kazumoto, Nozu, Kandai

    “…Gitelman syndrome (GS) is a rare, autosomal recessive, salt‐losing tubulopathy caused by loss of function in the SLC12A3 gene (NM_000339.2), which encodes the…”
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    Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing by Aoto, Yuya, Horinouchi, Tomoko, Yamamura, Tomohiko, Kondo, Atsushi, Nagai, Sadayuki, Ishiko, Shinya, Okada, Eri, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Awano, Hiroyuki, Nagase, Hiroaki, Shima, Yuko, Nakanishi, Koichi, Matsuo, Masafumi, Iijima, Kazumoto, Nozu, Kandai

    Published in Kidney international reports (01-01-2022)
    “…COL4A5 is a causative gene of X-linked Alport syndrome (XLAS). Male patients with XLAS with nonsense variants have the most severe phenotypes of early onset…”
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    Journal Article