WebApr 8, 2024 · Vacuolar H+-ATPases (V-ATPases) transport protons across cellular membranes to acidify various organelles. ATP6V0A1 encodes the a1-subunit of … WebMay 16, 2024 · Hirotomo Saitsu, Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu 431–3192, Japan. Email: [email protected]. Naomichi Matsumoto, Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3–9 Fukuura, Kanazawa-ku, …
Biochemistry|Hamamatsu University School of Medicine
WebFeb 24, 2013 · Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu, Hirofumi Kodera, Satoko Kumada, Kenji Sugai, Emi Kasai-Yoshida, Noriko Sawaura, Hiroya Nishida, Ai Hoshino, Fukiko Ryujin, Seiichiro Yoshioka,... WebMar 10, 2024 · Hirotomo Saitsu Journal of Human Genetics ( 2024) Cite this article 78 Accesses Metrics Abstract The recent introduction of genome sequencing in genetic analysis has led to the identification of... collier row flats for sale
A deep intronic TCTN2 variant activating a cryptic exon predicted …
WebHirotomo Saitsu is conducting research in Mutation and Phenotype as part of his Exome sequencing study. His Gene research integrates issues from Semaphorin and … WebJul 16, 2024 · Results We identified a germline variant of KIAA0556, which encodes a ciliary protein, and 2 somatic variants of PTPN11, which forms part of the RAS/mitogen-activated protein kinase (MAPK) pathway, as well as variants in known genes associated with HH.An SNP array identified (among 3 patients) one germline copy-neutral loss of heterozygosity … WebHirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata; Affiliations Karin Kojima Department of Pediatrics, Jichi Medical University Takahito Wada Department of Genomic Medicine, Kyoto University Graduate School of Medicine Hiroko Shimbo Department of Neurology, Kanagawa Children’s Medical Center ... dr richa seth dentist