Research Topics
Genomes and GenesSpecies | Shinji KunishimaSummaryAffiliation: National Hospital Organization Country: Japan Publications
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Publications
Haematological characteristics of MYH9 disorders due to MYH9 R702 mutationsShinji Kunishima
Department of Haemostasis and Thrombosis, Clinical Research Centre, National Hospital Organization Nagoya Medical Centre, Nagoya, Japan
Eur J Haematol 78:220-6. 2007..The aim of our study was to determine the haematological characteristics of MYH9 disorders as a result of R702 mutations to aid in making a proper diagnosis...
Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disordersShinji Kunishima
Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
Blood 111:3015-23. 2008..We show the differential expression of mutant NMMHC-IIA and postulate that cell-specific regulation mechanisms function in MYH9 disorders...- Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disordersShinji Kunishima
Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
Eur J Haematol 80:540-4. 2008..Immunoblot analysis showed a small, abnormal protein in neutrophils but not in platelets. This is the first report of a large deletion of the MYH9 gene leading to the development of MYH9 disorders... - Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutationsShinji Kunishima
Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
Eur J Haematol 77:501-12. 2006..These results suggest that despite disruption of the disulfide linkage between GPIbalpha and GPIbbeta, GPIb/IX is formed, but its stability may be impaired, resulting in low levels of the complex on the platelet membranes... - Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assemblyShinji Kunishima
Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
Blood 113:458-61. 2009..Alternatively, mutant beta1-tubulin may not be transported from the megakaryocytes into platelets. W318 beta1-tubulin may interfere with normal platelet production, resulting in macrothrombocytopenia... - [May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease]Shinji Kunishima
Laboratory of Molecular Diagnosis, Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya 460 0001, Japan
Rinsho Byori 57:54-9. 2009..We showed the differential expression of mutant NMMHC-IIA, and postulated that cell-specific regulation mechanisms function in MYH9 disorders... - Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpuraShinji Kunishima
Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
Eur J Haematol 76:348-55. 2006..These findings suggest that null expression of the mutant GPIbalpha causes decreased density of the complex and results in macrothrombocytopenia... - Further characterization of anti-platelet monoclonal antibody HPL5 as anti-glycoprotein V antibodyShinji Kunishima
Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya University School of Health Sciences, Nagoya, Japan
Acta Haematol 115:128-30. 2006 - Congenital macrothrombocytopeniasShinji Kunishima
Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
Blood Rev 20:111-21. 2006..This review summarizes the current knowledge on the clinical and laboratory features of common congenital macrothrombocytopenias and discusses how that knowledge aids in making a proper diagnosis... - First description of somatic mosaicism in MYH9 disordersShinji Kunishima
Department of Haemostasis and Thrombosis, Clinical Research Centre, National Hospital Organization Nagoya Medical Centre, Nagoya, Japan
Br J Haematol 128:360-5. 2005..Mosaicism might account for some de novo mutations in MYH9 disorders... - Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafnessShinji Kunishima
Department of Hemostasis and Thrombosis, Clinical Research Center, Nagoya Medical Center, Nagoya, Japan
Eur J Haematol 74:1-5. 2005..These results further support the usefulness of immunofluorescence analysis in differential diagnosis of MYH9 disorders... - [Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders]Shinji Kunishima
Laboratory of Molecular Diagnosis, Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya 460 0001, Japan
Rinsho Byori 57:365-70. 2009..Patients initially diagnosed with MHA and/or Sebastian syndrome can subsequently develop nephritis, deafness, and/or cataracts. Thus, the development of Alport manifestations should be monitored by careful follow-up... - Advances in the understanding of MYH9 disordersShinji Kunishima
Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
Curr Opin Hematol 17:405-10. 2010..The present review summarizes the recent advances in genetic diagnosis and our understanding of the pathogenetic mechanisms of MYH9 mutations and the development of nonhematological complications... - FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopeniaShinji Kunishima
Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, 4 1 1 Sannomaru, Nagoya, Japan
J Hum Genet 55:844-6. 2010..Hemizygous controls had a normal platelet count and size. We suggest that p.V528M is neither associated with BPNH nor with thrombocytopenia and giant platelets, and represents a functional polymorphism... - Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopeniaShinji Kunishima
Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, 4 1 1 Sannomaru, Naka ku, Nagoya, Japan
Blood 117:5479-84. 2011..We propose that activating mutations in ITGA2B and ITGB3 represent the etiology of a subset of congenital macrothrombocytopenias... - A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein SHiromi Okada
Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, 4 1 1 San nomaru, Naka ku, Nagoya 460 0001, Japan
Thromb Res 125:e246-50. 2010.... - Historical hematology: May-Hegglin anomalyHidehiko Saito
Nagoya Central Hospital, Nagoya, Japan
Am J Hematol 83:304-6. 2008..Current interest is centered upon the mechanisms by which a single mutation causes a variety of phenotypes... - Thrombosis from a prothrombin mutation conveying antithrombin resistanceYuhri Miyawaki
Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, Nagoya, Japan
N Engl J Med 366:2390-6. 2012..The Leu596 substitution caused a gain-of-function mutation in the prothrombin gene, resulting in resistance to antithrombin and susceptibility to thrombosis... - First Turkish case of Bernard-Soulier syndrome associated with GPIX N45SNecati Dağistan
Department of Hematology, Golcuk Military Hospital, Golcuk, Turkey
Acta Haematol 118:146-8. 2007..This is the first non-Caucasian Turkish BSS case due to GPIX N45S and is likely the result of a recurrent mutational event... - Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutationsShinji Kunishima
Japanese Red Cross Aichi Blood Center, Seto, Japan
Lab Invest 83:115-22. 2003..Immunofluorescence analysis of neutrophil NMMHCA is useful as a screening test for the clear hematopathologic classification of MYH9 disorders... - [May-Hegglin anomaly--from genome research to clinical laboratory]Shinji Kunishima
Japanese Red Cross Aichi Blood Center, Seto 489-8555
Rinsho Byori 51:898-904. 2003..Immunofluorescence analysis of neutrophil NMMHCA is useful as a novel screening test for the differential diagnosis of macrothrombocytopenia and clear hematopathological classification of MYH9 disorders... - A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case reportMiyako Yoshinari
Department of Pediatric Oncology, Institute of Development, Aging, and Cancer, Tohoku University, Sendai, Japan
J Pediatr Hematol Oncol 26:579-83. 2004..MYH9 disorders may be much more common than previously realized if accurately diagnosed... - Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO miceTadashi Matsushita
Department of Hematology, Nagoya University Graduate School of Medicine, Japan
Biochem Biophys Res Commun 325:1163-71. 2004..Such observation may parallel the diverse expression of Alport's manifestations of human individuals with MYH9 disorders and suggest the limited requirement of the gene for maintenance and function of specific organs... - Identification of a novel MYH9 mutation in a patient with May-Hegglin anomalyKeisuke Otsubo
Pediatr Blood Cancer 47:968-9. 2006 - Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpuraShinji Kunishima
Int J Hematol 83:366-7. 2006 - Accumulation of MYH9 mRNA at leukocyte inclusion bodies in MYH9 disordersShinji Kunishima
Eur J Haematol 81:325-6. 2008 - Characterization of a patient with atypical amegakaryocytic thrombocytopeniaSachiko Kanaji
Division of Medical Biochemistry, Department of Biomolecular Sciences, Saga Medical School, Saga, Japan
Eur J Haematol 80:361-4. 2008..To our knowledge, this is the first report that describes a case of amegakaryocytic thrombocytopenia that is not caused by a mutation in MPL and demonstrates the severe impairment of GPVI expression on platelets... - Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndromeShinji Kunishima
Japanese Red Cross Aichi Blood Center, Seto, Japan
Am J Hematol 71:279-84. 2002.... - Genetic abnormalities of Bernard-Soulier syndromeShinji Kunishima
Int J Hematol 76:319-27. 2002..In this review, we summarize recent advances in the molecular basis of BSS with special emphasis on giant platelets and the genetic characteristics of Japanese BSS...