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Sachiko Miyamoto

Showing results (11-20 of 33) with videos related to

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Human Genome Variation|June 29, 2026
Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of functionTakashi Shibata, Tomoyuki Akiyama, Takuma Harasaki, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research|January 1, 2026
Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na<sup>+</sup>/K<sup>+</sup>-ATPase levels in a cell modelSachiko Miyamoto, Shun-Ichi Yamashita, Hazrat Belal, et al.
Biochemical and Biophysical Research Communications|May 5, 2009
DOC2b is a SNARE regulator of glucose-stimulated delayed insulin secretionMutsuko Miyazaki, Masahiro Emoto, Naofumi Fukuda, et al.
Journal of Human Genetics|March 25, 2026
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cellsToru Takagi, Sachiko Miyamoto, Kenji Shimizu, et al.
Human Genome Variation|February 19, 2022
Two novel heterozygous variants in ATP1A3 cause movement disordersShogo Furukawa, Sachiko Miyamoto, Shinobu Fukumura, et al.
Journal of Human Genetics|March 9, 2023
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndromeTakuya Hiraide, Kenji Shimizu, Yoshinori Okumura, et al.
Annals of Human Genetics|July 7, 2026
Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM VariantTakuma Harasaki, Sachiko Miyamoto, Takahiro Yonekawa, et al.
Journal of Human Genetics|June 25, 2021
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathiesSachiko Miyamoto, Mitsuhiro Kato, Kenji Sugiyama, et al.
Diabetes|November 27, 2008
DOC2B: a novel syntaxin-4 binding protein mediating insulin-regulated GLUT4 vesicle fusion in adipocytesNaofumi Fukuda, Masahiro Emoto, Yoshitaka Nakamori, et al.
Journal of Human Genetics|January 24, 2022
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicingTakuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Human Genome Variation|June 29, 2026
Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of functionTakashi Shibata, Tomoyuki Akiyama, Takuma Harasaki, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research|January 1, 2026
Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na<sup>+</sup>/K<sup>+</sup>-ATPase levels in a cell modelSachiko Miyamoto, Shun-Ichi Yamashita, Hazrat Belal, et al.
Biochemical and Biophysical Research Communications|May 5, 2009
DOC2b is a SNARE regulator of glucose-stimulated delayed insulin secretionMutsuko Miyazaki, Masahiro Emoto, Naofumi Fukuda, et al.
Journal of Human Genetics|March 25, 2026
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cellsToru Takagi, Sachiko Miyamoto, Kenji Shimizu, et al.
Human Genome Variation|February 19, 2022
Two novel heterozygous variants in ATP1A3 cause movement disordersShogo Furukawa, Sachiko Miyamoto, Shinobu Fukumura, et al.
Journal of Human Genetics|March 9, 2023
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndromeTakuya Hiraide, Kenji Shimizu, Yoshinori Okumura, et al.
Annals of Human Genetics|July 7, 2026
Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM VariantTakuma Harasaki, Sachiko Miyamoto, Takahiro Yonekawa, et al.
Journal of Human Genetics|June 25, 2021
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathiesSachiko Miyamoto, Mitsuhiro Kato, Kenji Sugiyama, et al.
Diabetes|November 27, 2008
DOC2B: a novel syntaxin-4 binding protein mediating insulin-regulated GLUT4 vesicle fusion in adipocytesNaofumi Fukuda, Masahiro Emoto, Yoshitaka Nakamori, et al.
Journal of Human Genetics|January 24, 2022
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicingTakuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, et al.
Pageof 4