Mabuchi H - Search Results

1

Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

Yu W, Nohara A, Higashikata T, Lu H, Inazu A, Mabuchi H. Yu W, et al. Among authors: mabuchi h. Atherosclerosis. 2002 Dec;165(2):335-42. doi: 10.1016/s0021-9150(02)00249-6. Atherosclerosis. 2002. PMID: 12417285

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

Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.

Tada H, Kawashiri MA, Nohara A, Saito R, Tanaka Y, Nomura A, Konno T, Sakata K, Fujino N, Takamura T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K. Tada H, et al. Among authors: mabuchi h. Atherosclerosis. 2015 Jun;240(2):324-9. doi: 10.1016/j.atherosclerosis.2015.04.003. Epub 2015 Apr 7. Atherosclerosis. 2015. PMID: 25875382

10

Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations.

Tada H, Kawashiri MA, Yoshida T, Teramoto R, Nohara A, Konno T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K. Tada H, et al. Among authors: mabuchi h. Circ J. 2016;80(2):512-8. doi: 10.1253/circj.CJ-15-0999. Epub 2015 Dec 2. Circ J. 2016. PMID: 26632531 Free article. Clinical Trial.

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