Hiroko Morisaki

Hiroko Morisaki

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Hiroko Morisaki

Hiroko Morisaki

Publications by authors named "Hiroko Morisaki"

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74Publications

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Loeys-Dietz Syndrome Presented with Giant Bullae and Asthma.

J Allergy Clin Immunol Pract 2020 Feb 18. Epub 2020 Feb 18.

Department of Respirology, Kyoto Prefectural University of Medicine (North Medical Center), Kyoto, Japan.

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http://dx.doi.org/10.1016/j.jaip.2020.01.046DOI Listing
February 2020

A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality.

Cardiology 2019;144(1-2):53-59. Epub 2019 Oct 4.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1159/000502972DOI Listing
October 2019

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature.

Bone 2019 04 23;121:191-195. Epub 2019 Jan 23.

Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.bone.2019.01.022DOI Listing
April 2019

Histologic differences between the ascending and descending aortas in young adults with fibrillin-1 mutations.

J Thorac Cardiovasc Surg 2019 Feb 15. Epub 2019 Feb 15.

Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.

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http://dx.doi.org/10.1016/j.jtcvs.2019.01.126DOI Listing
February 2019

Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency.

Ann Thorac Surg 2018 Feb;105(2):e59-e61

Department of Cardiac Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S00034975173118
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http://dx.doi.org/10.1016/j.athoracsur.2017.08.041DOI Listing
February 2018

Role of AMPD2 in impaired glucose tolerance induced by high fructose diet.

Mol Genet Metab Rep 2017 Dec 24;13:23-29. Epub 2017 Jul 24.

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan.

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http://dx.doi.org/10.1016/j.ymgmr.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527155PMC
December 2017

Clinical outcomes of aortic repair in young adult patients with ACTA2 mutations.

Gen Thorac Cardiovasc Surg 2017 Dec 14;65(12):686-691. Epub 2017 Aug 14.

Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka, 565-8565, Japan.

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http://dx.doi.org/10.1007/s11748-017-0810-0DOI Listing
December 2017

Impact of connective tissue disease on the surgical outcomes of aortic dissection in patients with cystic medial necrosis.

J Cardiothorac Surg 2017 Nov 23;12(1):97. Epub 2017 Nov 23.

Cardiovascular Surgery, Tokyo Medical University, 6-7-1 Nishishinjuku Shinjuku-ku Tokyo, 160, Tokyo, -0023, Japan.

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http://dx.doi.org/10.1186/s13019-017-0663-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701318PMC
November 2017

Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report.

Interv Neuroradiol 2017 Apr 23;23(2):206-210. Epub 2017 Jan 23.

2 Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.

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http://dx.doi.org/10.1177/1591019916686054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433611PMC
April 2017

A case of fulminant type 1 diabetes masquerading acute pancreatitis.

J Gen Fam Med 2017 03 21;18(1):32-34. Epub 2017 Mar 21.

Department of Diabetes and Metabolism Medicine Aso Iizuka Hospital Fukuoka Japan.

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http://dx.doi.org/10.1002/jgf2.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675140PMC
March 2017

Pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia successfully treated with sildenafil.

Int J Cardiol 2016 Jul 31;214:275-6. Epub 2016 Mar 31.

Department of Cardiovascular Medicine, Kyushu University Hospital, 3-1-1, Maidashi, Higashiku, Fukuoka 812-8582, Japan.

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http://dx.doi.org/10.1016/j.ijcard.2016.03.211DOI Listing
July 2016

Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.

Am J Med Genet A 2016 07 15;170(7):1924-7. Epub 2016 Apr 15.

Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37662DOI Listing
July 2016

Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.

J Hum Genet 2016 Feb 22;61(2):157-62. Epub 2015 Oct 22.

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan.

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http://dx.doi.org/10.1038/jhg.2015.126DOI Listing
February 2016

Genetics of hereditary large vessel diseases.

J Hum Genet 2016 Jan 8;61(1):21-6. Epub 2015 Oct 8.

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.

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http://dx.doi.org/10.1038/jhg.2015.119DOI Listing
January 2016

Erratum to: AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle.

BMC Endocr Disord 2015 Dec 8;15:80. Epub 2015 Dec 8.

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, 5-7-1 Fujishirodai, Suita, 565-8565, Osaka, Japan.

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http://dx.doi.org/10.1186/s12902-015-0078-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673729PMC
December 2015

Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.

Am J Med Genet A 2015 Oct 22;167A(10):2435-9. Epub 2015 Jun 22.

Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37202DOI Listing
October 2015

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

Circ Cardiovasc Genet 2015 Jun 10;8(3):457-64. Epub 2015 Mar 10.

Departments of Internal Medicine (E.S.R., D.G., S.P., T.A.B., K.F., D.M.M.), Cardiothoracic and Vascular Surgery (A.E., H.S.), University of Texas Health Science Center at Houston; Department of Medicine, Stanford University Medical Center, CA (D.L.); Connective Tissue Gene Tests, Allentown, PA (J.H.); Department of Cardiac and Vascular Sciences, St. George's, University of London, London, United Kingdom (A.C., G.A.); AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France (C.B., G.J.), Université Paris 7, Paris, France (C.B., G.J.), AP-HP, Hôpital Bichat, Laboratoire de Génétique moléculaire, Boulogne, France (C.B.), and INSERM, U1148, Paris, France (C.B., G.J.); AP-HP, Hôpital Bichat, Service de Cardiologie, Paris, France (G.J.); Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO (A.B.); Genomic Medicine Institute, Cleveland Clinic, OH (R.M.); Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan (T.M., H.M.); Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.P.); Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX (J.C., S.L.); and Texas Heart Institute and Baylor St. Luke's Medical Center, Houston (J.C., S.L.).

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601641PMC
June 2015

AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle.

BMC Endocr Disord 2015 Mar 27;15:11. Epub 2015 Mar 27.

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, 5-7-1 Fujishirodai, Suita, Osaka, 565-8565, Japan.

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http://bmcendocrdisord.biomedcentral.com/articles/10.1186/s1
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http://dx.doi.org/10.1186/s12902-015-0010-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520000PMC
March 2015

AMPD1: a novel therapeutic target for reversing insulin resistance.

BMC Endocr Disord 2014 Dec 15;14:96. Epub 2014 Dec 15.

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, 5-7-1 Fujishirodai, Suita, Osaka 565-8565, Japan.

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http://dx.doi.org/10.1186/1472-6823-14-96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274759PMC
December 2014

Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome.

Pediatr Int 2014 Dec;56(6):e82-e85

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.

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http://dx.doi.org/10.1111/ped.12430DOI Listing
December 2014

BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: a case report.

Respir Investig 2014 May 10;52(3):195-8. Epub 2013 Sep 10.

Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.resinv.2013.08.003DOI Listing
May 2014

Hereditary hemorrhagic telangiectasia in Japanese patients.

J Hum Genet 2014 Jan 7;59(1):37-41. Epub 2013 Nov 7.

Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center, Osaka, Japan.

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http://dx.doi.org/10.1038/jhg.2013.113DOI Listing
January 2014

Effect of isolated AMP deaminase deficiency on skeletal muscle function.

Mol Genet Metab Rep 2014 16;1:51-59. Epub 2014 Jan 16.

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan; Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan.

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http://dx.doi.org/10.1016/j.ymgmr.2013.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121310PMC
January 2014

Co-existence of mutations in the FBN1 gene and the ABCC6 gene in a patient with Marfan syndrome associated with pseudoxanthoma elasticum.

J Dermatol Sci 2013 Dec 30;72(3):325-7. Epub 2013 Jul 30.

Department of Dermatology, Dokkyo Medical University, School of Medicine, Mibu, Tochigi, Japan.

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http://dx.doi.org/10.1016/j.jdermsci.2013.07.007DOI Listing
December 2013

Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.

Am J Med Genet A 2013 Apr 12;161A(4):856-9. Epub 2013 Mar 12.

Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35776DOI Listing
April 2013

AMP deaminase 3 plays a critical role in remote reperfusion lung injury.

Biochem Biophys Res Commun 2013 Apr 29;434(1):131-6. Epub 2013 Mar 29.

Department of Genetic Medicine and Regenerative Therapeutics, Institute of Regenerative Medicine and Biofunction, Tottori University, Japan.

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http://dx.doi.org/10.1016/j.bbrc.2013.03.056DOI Listing
April 2013

Surgical experience with aggressive aortic pathologic process in Loeys-Dietz syndrome.

Ann Thorac Surg 2012 Nov 24;94(5):1413-7. Epub 2012 Aug 24.

Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S000349751201326
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http://dx.doi.org/10.1016/j.athoracsur.2012.05.111DOI Listing
November 2012

AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.

Genes Cells 2012 Nov 18;17(11):913-22. Epub 2012 Oct 18.

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, 5-7-1 Fujishirodai, Suita, Osaka, 565-8565, Japan.

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http://doi.wiley.com/10.1111/gtc.12006
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http://dx.doi.org/10.1111/gtc.12006DOI Listing
November 2012

Prenatal complex congenital heart disease with Loeys-Dietz syndrome.

Cardiol Young 2012 Feb 21;22(1):116-9. Epub 2011 Jul 21.

Department of Pediatric Cardiology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.

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http://dx.doi.org/10.1017/S1047951111001028DOI Listing
February 2012

CDH13 gene coding T-cadherin influences variations in plasma adiponectin levels in the Japanese population.

Hum Mutat 2012 Feb 8;33(2):402-10. Epub 2011 Dec 8.

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.

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http://dx.doi.org/10.1002/humu.21652DOI Listing
February 2012

Proteinuria in AMPD2-deficient mice.

Genes Cells 2012 Jan;17(1):28-38

Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, 5-7-1 Fujishirodai, Suita, Osaka 565-8565, Japan.

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http://dx.doi.org/10.1111/j.1365-2443.2011.01568.xDOI Listing
January 2012

Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction.

J Mol Biol 2011 Nov 12;413(4):857-78. Epub 2011 Sep 12.

Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Biofunction, Tottori University Graduate School of Medical Science, Yonago, Japan.

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http://dx.doi.org/10.1016/j.jmb.2011.09.006DOI Listing
November 2011

Genetic link between obesity and MMP14-dependent adipogenic collagen turnover.

Diabetes 2010 Oct 26;59(10):2484-94. Epub 2010 Jul 26.

Division of Metabolism, Endocrinology and Diabetes, the Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.2337/db10-0073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279534PMC
October 2010

High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome.

Jpn J Radiol 2010 May 29;28(4):273-7. Epub 2010 May 29.

Department of Radiology and Nuclear Medicine, National Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, 565-8565, Japan.

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http://link.springer.com/10.1007/s11604-010-0420-6
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http://dx.doi.org/10.1007/s11604-010-0420-6DOI Listing
May 2010

Resistin gene variations are associated with the metabolic syndrome in Japanese men.

Obes Res Clin Pract 2009 May;3(2):I-II

Department of Bioscience, National Cardiovascular Center Research Institute, Osaka, Japan.

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http://dx.doi.org/10.1016/j.orcp.2008.11.003DOI Listing
May 2009

Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.

J Mol Biol 2008 Dec 7;384(4):896-907. Epub 2008 Oct 7.

Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Biofunction, Tottori University Graduate School of Medical Science, Yonago, Japan.

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http://dx.doi.org/10.1016/j.jmb.2008.09.070DOI Listing
December 2008

Leptin gene and leptin receptor gene polymorphisms are associated with sweet preference and obesity.

Hypertens Res 2008 Jun;31(6):1069-77

Department of Bioscience, National Cardiovascular Center Research Institute, Suita, Japan.

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http://dx.doi.org/10.1291/hypres.31.1069DOI Listing
June 2008

[Urate production and regulation].

Nihon Rinsho 2008 Apr;66(4):653-8

Department of Bioscience, National Cardiovascular Center Research Institute.

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April 2008

[AMPD genes and urate metabolism].

Nihon Rinsho 2008 Apr;66(4):771-7

Department of Bioscience, National Cardiovascular Center Research Institute.

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April 2008

Recombinant HBsAg inhibits LPS-induced COX-2 expression and IL-18 production by interfering with the NFkappaB pathway in a human monocytic cell line, THP-1.

J Hepatol 2005 Sep;43(3):465-71

Division of Hepatobiliary and Pancreatic Disease, Department of Internal Medicine, Hyogo College of Medicine, 1-1 Mukogawacho, Nishinomiya, Hyogo 663, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S016882780500263
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http://dx.doi.org/10.1016/j.jhep.2005.02.033DOI Listing
September 2005

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.

Hum Mutat 2004 Jun;23(6):632

Department of Bioscience, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan.

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http://dx.doi.org/10.1002/humu.9251DOI Listing
June 2004

Single-nucleotide polymorphism g.1548G > A (E469K) in human ICAM-1 gene affects mRNA splicing pattern and TPA-induced apoptosis.

Biochem Biophys Res Commun 2004 May;317(3):729-35

Department of Bioscience, National Cardiovascular Center Research Institute, Suita, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S0006291X0400583
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http://dx.doi.org/10.1016/j.bbrc.2004.03.101DOI Listing
May 2004

[The application of denaturing high performance liquid chromatography in detection of novel polymorphisms in PAI-1gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2003 Oct;20(5):404-8

Emergency Department, Affiliated Beijing Tongren Hospital, Capital University of Medical Science, Beijing, 100730 PR China.

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October 2003

Estimation of haplotype frequencies, linkage-disequilibrium measures, and combination of haplotype copies in each pool by use of pooled DNA data.

Am J Hum Genet 2003 Feb 17;72(2):384-98. Epub 2003 Jan 17.

Algorithm Team, Japan Biological Information Research Center, Japan Biological Informatics Consortium, Tokyo, Japan.

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http://dx.doi.org/10.1086/346116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379231PMC
February 2003