Mabuchi H - Search Results

1

Cutoff point separating affected and unaffected familial hypercholesterolemic patients validated by LDL-receptor gene mutants.

Mabuchi H, Higashikata T, Nohara A, Lu H, Yu WX, Nozue T, Noji Y, Katsuda S, Kawashiri MA, Inazu A, Kobayashi J, Koizumi J. Mabuchi H, et al. J Atheroscler Thromb. 2005;12(1):35-40. doi: 10.5551/jat.12.35. J Atheroscler Thromb. 2005. PMID: 15725694 Free article.

2

A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3/CD28 assay in lymphocytes.

Tada H, Kawashiri MA, Noguchi T, Mori M, Tsuchida M, Takata M, Nohara A, Inazu A, Kobayashi J, Yachie A, Mabuchi H, Yamagishi M. Tada H, et al. Among authors: mabuchi h. Clin Chim Acta. 2009 Feb;400(1-2):42-7. doi: 10.1016/j.cca.2008.10.010. Epub 2008 Oct 26. Clin Chim Acta. 2009. PMID: 19013141

3

The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.

Noguchi T, Katsuda S, Kawashiri MA, Tada H, Nohara A, Inazu A, Yamagishi M, Kobayashi J, Mabuchi H. Noguchi T, et al. Among authors: mabuchi h. Atherosclerosis. 2010 May;210(1):166-72. doi: 10.1016/j.atherosclerosis.2009.11.018. Epub 2009 Nov 20. Atherosclerosis. 2010. PMID: 20006333

4

Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.

Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Tada H, Nakanishi C, Mori M, Yamagishi M, Inazu A, Koizumi J; Hokuriku FH Study Group. Mabuchi H, et al. Atherosclerosis. 2011 Feb;214(2):404-7. doi: 10.1016/j.atherosclerosis.2010.11.005. Epub 2010 Nov 13. Atherosclerosis. 2011. PMID: 21146822 Free article.

5

A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.

Tada H, Kawashiri MA, Ohtani R, Noguchi T, Nakanishi C, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M. Tada H, et al. Among authors: mabuchi h. Atherosclerosis. 2011 Dec;219(2):663-6. doi: 10.1016/j.atherosclerosis.2011.08.004. Epub 2011 Aug 10. Atherosclerosis. 2011. PMID: 21872251

6

Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.

Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Inoue T, Mori M, Tada H, Nakanishi C, Yagi K, Yamagishi M, Ueda K, Takegoshi T, Miyamoto S, Inazu A, Koizumi J; Hokuriku FH Study Group. Mabuchi H, et al. Atherosclerosis. 2014 Sep;236(1):54-61. doi: 10.1016/j.atherosclerosis.2014.06.005. Epub 2014 Jun 26. Atherosclerosis. 2014. PMID: 25014035

7

Marked transient hypercholesterolemia caused by low-dose mitotane as adjuvant chemotherapy for adrenocortical carcinoma.

Tada H, Nohara A, Kawashiri MA, Inazu A, Mabuchi H, Yamagishi M. Tada H, et al. Among authors: mabuchi h. J Atheroscler Thromb. 2014;21(12):1326-9. doi: 10.5551/jat.27557. Epub 2014 Nov 12. J Atheroscler Thromb. 2014. PMID: 25392159 Free article.

8

Autosomal recessive hypercholesterolemia: a mild phenotype of familial hypercholesterolemia: insight from the kinetic study using stable isotope and animal studies.

Tada H, Kawashiri MA, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M. Tada H, et al. Among authors: mabuchi h. J Atheroscler Thromb. 2015;22(1):1-9. doi: 10.5551/jat.27227. Epub 2014 Nov 14. J Atheroscler Thromb. 2015. PMID: 25399932 Free article. Review.

9

A de novo mutation of the LDL receptor gene as the cause of familial hypercholesterolemia identified using whole exome sequencing.

Tada H, Hosomichi K, Okada H, Kawashiri MA, Nohara A, Inazu A, Tomizawa S, Tajima A, Mabuchi H, Hayashi K. Tada H, et al. Among authors: mabuchi h. Clin Chim Acta. 2016 Jan 30;453:194-6. doi: 10.1016/j.cca.2015.12.028. Epub 2015 Dec 23. Clin Chim Acta. 2016. PMID: 26721317

10

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.

Tada H, Kawashiri MA, Okada H, Endo S, Toyoshima Y, Konno T, Nohara A, Inazu A, Takao A, Mabuchi H, Yamagishi M, Hayashi K. Tada H, et al. Among authors: mabuchi h. J Atheroscler Thromb. 2016 Jul 1;23(7):884-90. doi: 10.5551/jat.34827. Epub 2016 May 10. J Atheroscler Thromb. 2016. PMID: 27170062 Free PMC article.

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