Tanji K - Search Results

1

mTOR Inhibition Prolongs Survival and Has Beneficial Effects on Heart Function After Onset of Lamin A/C Gene Mutation Cardiomyopathy in Mice.

Wu W, Jin Q, Östlund C, Tanji K, Shin JY, Han J, Leu CS, Kushner J, Worman HJ. Wu W, et al. Among authors: tanji k. Circ Heart Fail. 2024 Apr;17(4):e011110. doi: 10.1161/CIRCHEARTFAILURE.123.011110. Epub 2024 Apr 3. Circ Heart Fail. 2024. PMID: 38567527 Free PMC article.

2

Postnatal development of mice with combined genetic depletions of lamin A/C, emerin and lamina-associated polypeptide 1.

Wang Y, Shin JY, Nakanishi K, Homma S, Kim GJ, Tanji K, Joseph LC, Morrow JP, Stewart CL, Dauer WT, Worman HJ. Wang Y, et al. Among authors: tanji k. Hum Mol Genet. 2019 Aug 1;28(15):2486-2500. doi: 10.1093/hmg/ddz082. Hum Mol Genet. 2019. PMID: 31009944 Free PMC article.

3

Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth.

Shin JY, Méndez-López I, Hong M, Wang Y, Tanji K, Wu W, Shugol L, Krauss RS, Dauer WT, Worman HJ. Shin JY, et al. Among authors: tanji k. Hum Mol Genet. 2017 Jan 1;26(1):65-78. doi: 10.1093/hmg/ddw368. Hum Mol Genet. 2017. PMID: 27798115 Free PMC article.

4

Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.

Shin JY, Méndez-López I, Wang Y, Hays AP, Tanji K, Lefkowitch JH, Schulze PC, Worman HJ, Dauer WT. Shin JY, et al. Among authors: tanji k. Dev Cell. 2013 Sep 30;26(6):591-603. doi: 10.1016/j.devcel.2013.08.012. Epub 2013 Sep 19. Dev Cell. 2013. PMID: 24055652 Free PMC article.

5

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.

Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. Among authors: tanji k. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.

6

Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice.

Kubota A, Juanola-Falgarona M, Emmanuele V, Sanchez-Quintero MJ, Kariya S, Sera F, Homma S, Tanji K, Quinzii CM, Hirano M. Kubota A, et al. Among authors: tanji k. Hum Mol Genet. 2019 Jan 15;28(2):209-219. doi: 10.1093/hmg/ddy299. Hum Mol Genet. 2019. PMID: 30260394 Free PMC article.

7

A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.

Karadimas C, Tanji K, Geremek M, Chronopoulou P, Vu T, Krishna S, Sue CM, Shanske S, Bonilla E, DiMauro S, Lipson M, Bachman R. Karadimas C, et al. Among authors: tanji k. J Child Neurol. 2001 Jul;16(7):531-3. doi: 10.1177/088307380101600715. J Child Neurol. 2001. PMID: 11453453

8

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M. Emmanuele V, et al. Among authors: tanji k. Hum Mol Genet. 2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30. Hum Mol Genet. 2015. PMID: 25274776 Free PMC article.

9

Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency.

Lopez-Gomez C, Hewan H, Sierra C, Akman HO, Sanchez-Quintero MJ, Juanola-Falgarona M, Tadesse S, Tanji K, Konofagou EE, Hirano M. Lopez-Gomez C, et al. Among authors: tanji k. EBioMedicine. 2019 Aug;46:356-367. doi: 10.1016/j.ebiom.2019.07.037. Epub 2019 Aug 2. EBioMedicine. 2019. PMID: 31383553 Free PMC article.

10

Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.

Garcia-Diaz B, Garone C, Barca E, Mojahed H, Gutierrez P, Pizzorno G, Tanji K, Arias-Mendoza F, Quinzii CM, Hirano M. Garcia-Diaz B, et al. Among authors: tanji k. Brain. 2014 May;137(Pt 5):1337-49. doi: 10.1093/brain/awu068. Epub 2014 Apr 10. Brain. 2014. PMID: 24727567 Free PMC article.

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