S. Kunishima

Yuko Kajiho, M. Hattori, S. Kunishima, 2013, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

The impact of dietary magnesium restriction on magnesiotropic and calciotropic genes

Yuko Kajiho, M. Hattori, S. Kunishima, 2013 .

Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema

M. Pöyhönen, R. Lassila, S. Kunishima, 2022, American journal of medical genetics. Part A.

Genes for thrombopoietin and c‐mpl are not responsible for familial thrombocythaemia: a case study

T. Naoe, H. Saito, T. Kamiya, 1998, British journal of haematology.

Consensus recommendations on flow cytometry for the assessment of inherited and acquired disorders of platelet number and function: Communication from the ISTH SSC Subcommittee on Platelet Physiology

A. Michelson, A. L. Frelinger, M. Lordkipanidzé, 2021, Journal of thrombosis and haemostasis : JTH.

Poor clinical significance of p53 gene polymorphism in acute myeloid leukemia.

T. Naoe, R. Ohno, H. Saito, 2000, Leukemia research.

RHOF PROMOTES MURINE MARGINAL ZONE B CELL DEVELOPMENT

T. Naoe, M. Ikawa, H. Kiyoi, 2014, Nagoya journal of medical science.

Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis

T. Inaba, S. Okada, M. Tsumura, 2013, British journal of haematology.

Knock‐in mice bearing constitutively active αIIb(R990W) mutation develop macrothrombocytopenia with severe platelet dysfunction

T. Miyata, Y. Kanakura, Y. Tomiyama, 2019, Journal of thrombosis and haemostasis : JTH.

Bilateral Periventricular Nodular Heterotopia With Megalencephaly

K. Haginoya, Toshiyuki Yamamoto, K. Wakusawa, 2014, Journal of child neurology.

IL-1α induces thrombopoiesis through megakaryocyte rupture in response to acute platelet needs

I. Komuro, T. Ohmori, T. Kadowaki, 2015, The Journal of cell biology.

JCB_201410052 1..14

I. Komuro, T. Ohmori, T. Kadowaki, 2015 .

Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice

Y. Ishikawa, H. Saito, H. Kiyoi, 2021, Nagoya journal of medical science.

GPIbα is required for platelet-mediated hepatic thrombopoietin generation.

J. Marshall, J. Freedman, J. Ware, 2018, Blood.

IL-1[alpha] induces thrombopoiesis through megakaryocyte rupture in response to acute platelet needs

I. Komuro, T. Ohmori, T. Kadowaki, 2015 .

Xq26.1‐26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria

K. Haginoya, S. Kure, K. Wakusawa, 2014, Developmental medicine and child neurology.

Serum thrombopoietin and plasma glycocalicin concentrations as useful diagnostic markers in thrombocytopenic disorders

T. Naoe, H. Saito, T. Kato, 1996, European Journal of Haematology.

Missense Mutations of the Glycoprotein (GP) Ibβ Gene Impairing the GPIb α/β Disulfide Linkage in a Family With Giant Platelet Disorder

T. Naoe, H. Saito, S. Kobayashi, 1997 .

Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.

H. Kanegane, M. Hattori, H. Saito, 2010, Kidney international.

Historical hematology: May–Hegglin anomaly

H. Saito, S. Kunishima, H. Saito, 2008, American journal of hematology.

Expanding the genetic spectrum of TUBB1-related thrombocytopenia

V. Vicente, P. Gresele, L. Bury, 2021, Blood advances.

Novel nonsense mutation in the platelet glycoprotein Ibβ gene associated with Bernard‐Soulier syndrome

H. Saito, T. Matsushita, T. Kamiya, 2002, American journal of hematology.

Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.

H. Saito, T. Matsushita, T. Kamiya, 2002, American journal of hematology.

A prevalent founder mutation and genotype–phenotype correlations of OTOF in Japanese patients with auditory neuropathy

K. Kaga, S. Kunishima, T. Matsunaga, 2012, Clinical genetics.

Bernard–Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion

S. Ogawa, Motohiro Kato, H. Saito, 2013, Pediatrics International.

A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form.

T. Kamijo, K. Koike, D. Kenny, 2001, Thrombosis and haemostasis.

Renal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic 2 May-Hegglin Anomaly 3 4 Running title : Asymptomatic May-Hegglin Anomaly

Terasaki, A. Shimizu, K. Nagahama, 2021 .

Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness.

H. Saito, S. Kunishima, T. Matsunaga, 2009, Genetic testing and molecular biomarkers.

Identification of the first in cis mutations in MYH9 disorder

S. Kunishima, Y. Miyajima, 2009, European journal of haematology.

Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders.

H. Saito, M. Hamaguchi, S. Kunishima, 2008, Blood.

Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice.

T. Naoe, Masahide Takahashi, M. Hayashi, 2004, Biochemical and biophysical research communications.

Immunofluorescence Analysis of Neutrophil Nonmuscle Myosin Heavy Chain-A in MYH9 Disorders: Association of Subcellular Localization with MYH9 Mutations

H. Saito, Eun-Kyeong Jo, T. Matsushita, 2003, Laboratory Investigation.

Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature.

Y. Mori, S. Kunishima, T. Inaba, 2013, Clinical nephrology.

Bernard-Soulier Syndrome due to Compound Heterozygosity for a Novel Glycoprotein Ibβ Mutation

K. Kusuhara, Tetsuji Sato, S. Kunishima, 2013, Acta Haematologica.

Molecular genetic analysis of a variant Bernard–Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibβ mutations

H. Saito, M. Hamaguchi, S. Kunishima, 2006 .

Homozygous Pro74 → Arg Mutation in the Platelet Glycoprotein Ibβ Gene Associated with Bernard-Soulier Syndrome

H. Saito, S. Honda, Y. Tomiyama, 2000, Thrombosis and Haemostasis.

Early diagnosis improves the quality of life in MYH9 disorder

S. Kunishima, D. Hata, M. Nakata, 2012, Pediatric blood & cancer.

Paris‐Trousseau‐type macrothrombocytopenia without 11q deletion

S. Kunishima, U. Koçak, T. Gursel, 2010, Pediatrics international : official journal of the Japan Pediatric Society.

Novel heterozygous missense mutation in the platelet glycoprotein Ibβ gene associated with isolated giant platelet disorder

T. Naoe, T. Kamiya, S. Kunishima, 2001, American journal of hematology.

Vulnerable mutation Trp126 → stop of glycoprotein IX in Japanese Bernard – Soulier syndrome

T. Naoe, M. Tomonaga, M. Iwanaga, 1998, European journal of haematology.

De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease.

T. Naoe, C. Hickton, H. Saito, 1997, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

First Turkish Case of Bernard-Soulier Syndrome Associated with GPIX N45S

S. Kunishima, Necati Dağistan, 2007, Acta Haematologica.

Cys97→Tyr mutation in the glycoprotein IX gene associated with Bernard‐Soulier syndrome

S. Honda, Y. Tomiyama, H. Saito, 1999, British journal of haematology.

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions

H. Saito, T. Matsushita, T. Kojima, 2001, Journal of Human Genetics.

Familial macrothrombocytopenia with unusually elongated mitochondria.

K. Miwa, M. Shamoto, S. Kunishima, 1995, Internal medicine.

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

William J. Astle, Suthesh Sivapalaratnam, Kathleen Stirrups, 2017, Blood.

Platelet Adhesive Protein Defect Disorders

S. Kunishima, H. Kashiwagi, Shinji Kunishima, 2017 .

Molecular Basis of Bernard-Soulier Syndrome

S. Kunishima, 1995 .

Marco Seri, Tommaso Pippucci, Anna Savoia, 2015, Blood.

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia

A. Takata, N. Matsumoto, M. Shiina, 2018, British journal of haematology.

Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia

M. Morel-Kopp, C. Ward, B. Kile, 2018, Platelets.

A case of MYH9 disorders caused by a novel mutation (p.K74E)

Y. Kagami, T. Aoki, H. Kiyoi, 2015, Annals of Hematology.

Establishment of Mouse Model of MYH9 Disorders: Heterozygous R702C Mutation Provokes Macrothrombocytopenia with Leukocyte Inclusion Bodies, Renal Glomerulosclerosis and Hearing Disability

T. Naoe, M. Ikawa, M. Okabe, 2013, PloS one.

A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts

S. Kunishima, Xin Guo, Jihong Hao, 2011, Annals of Hematology.

Identification of three in‐frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24

W. Fujii, S. Kunishima, M. Higashihara, 2009, European journal of haematology.

A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.

T. Taketani, S. Mishima, A. Nagai, 2009, Thrombosis research.

MYH9 regulates proplatelet formation and platelet contraction

S. Kunishima, 2009 .

Accumulation of MYH9 mRNA at leukocyte inclusion bodies in MYH9 disorders

H. Saito, M. Hamaguchi, S. Kunishima, 2008, European journal of haematology.

Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders

H. Saito, T. Matsushita, M. Hamaguchi, 2008, European journal of haematology.

Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations

H. Saito, T. Matsushita, M. Hamaguchi, 2007, European journal of haematology.

Identification of a novel MYH9 mutation in a patient with May‐Hegglin anomaly

H. Kanegane, T. Miyawaki, S. Kunishima, 2006, Pediatric blood & cancer.

Giant platelet syndrome

H. Saito, T. Matsushita, K. Yamamoto, 2005, Hematology.

First description of somatic mosaicism in MYH9 disorders

Kentaro Yokoi, H. Saito, T. Matsushita, 2005, British journal of haematology.

Detection of unique neutrophil non‐muscle myosin heavy chain‐A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness

T. Naoe, H. Saito, T. Matsushita, 2005, European journal of haematology.

A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report.

H. Saito, S. Miyabayashi, S. Kunishima, 2004, Journal of pediatric hematology/oncology.

Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).

Toshihiro Tanaka, H. Saito, Y. Nakamura, 2001, Blood.

Mapping of a gene for May-Hegglin anomaly to chromosome 22q

Y. Nakamura, H. Saito, T. Kamiya, 1999, Human Genetics.

Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder

K. Ogawa, S. Kunishima, T. Matsunaga, 2016, European Archives of Oto-Rhino-Laryngology.

Further classification of neutrophil non-muscle myosin heavy chain-IIA localization for efficient genetic diagnosis of MYH9 disorders

A. Kada, S. Kunishima, Jihong Hao, 2018, Annals of Hematology.

Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders

P. Nurden, A. Greinacher, C. Balduini, 2017, Journal of thrombosis and haemostasis : JTH.

Two Cases of the MYH9 Disorder Fechtner Syndrome Diagnosed from Observation of Peripheral Blood Cells before End-Stage Renal Failure

A. Morishima, S. Kunishima, K. Sakaguchi, 2019, Case reports in nephrology.

Macrothrombocytopenia With Congenital Bilateral Cataracts: A Phenotype of MYH9 Disorder With Exon 24 Indel Mutations.

S. Kunishima, K. Minamitani, Setsuo Ota, 2017, Journal of pediatric hematology/oncology.

Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents

H. Saito, S. Kunishima, T. Sekine, 2014, British journal of haematology.

A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations

S. Kojima, Yoshiyuki Takahashi, S. Kunishima, 2016, Annals of Hematology.

Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure

S. Kunishima, S. Imashuku, Jun Shinozuka, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Linkage between the mechanisms of thrombocytopenia and thrombopoiesis.

K. Eto, S. Kunishima, 2016, Blood.

Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree

S. Kunishima, M. Kaneda, K. Iseki, 2015, Journal of pediatric hematology/oncology.

MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia

S. Kunishima, D. Sosothikul, P. Niparuck, 2021, Pediatric blood & cancer.

Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation

S. Kunishima, H. Takeoka, Mari Tanaka, 2019, Internal medicine.

Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation: A Case Report

S. Kunishima, H. Takeoka, Sho Miki, 2019 .

Transient hemiparesis in a 14-year-old boy with MYH9 disorders

M. Kubota, S. Kunishima, S. Kumaki, 2012, International Journal of Hematology.

Paola Giordano, Marco Seri, Anna Savoia, 2013, Blood.

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia

O. Ohara, S. Saitoh, S. Kunishima, 2018, Brain and Development.

The first two cases of MYH9 disorders in Thailand: an international collaborative study

S. Kunishima, S. Hongeng, T. Sekine, 2015, Annals of Hematology.

Congenital thrombocytopenia with nephritis - The first case of MYH9 related disorder in Serbia.

N. Stajić, R. Bogdanović, S. Kunishima, 2014, Vojnosanitetski pregled.

Familial cases with MYH9 disorders caused by MYH9 S96L mutation

M. Akiyama, H. Ida, S. Kunishima, 2013, Pediatrics international : official journal of the Japan Pediatric Society.

Successful immunostaining demonstrates abnormal intracytoplasmic MYH9 protein (NMMHC-IIA) in neutrophils of a dog with May-Hegglin anomaly.

S. Kunishima, B. Flatland, 2011, Veterinary clinical pathology.

Diagnosis of congenital macrothrombocytopenia

S. Kunishima, 2011 .

Response:W318 β1-tubulin and macrothrombocytopenia

H. Saito, S. Kunishima, H. Saito, 2009 .

Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents

H. Saito, S. Kunishima, Yoshimi Ito, 2009, British journal of haematology.

Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May–Hegglin anomaly

S. Kunishima, T. Omae, Sonoko Sakuraba, 2018, Journal of Anesthesia.

The first Japanese family with Sebastian platelet syndrome.

S. Kunishima, M. Tsurusawa, T. Fujimoto, 1999, International journal of hematology.

May-Hegglin anomaly: morphologic and clinical manifestations.

H. Saito, S. Kunishima, 2009, Clinical advances in hematology & oncology : H&O.

Novel heterozygous missense mutation in the second leucine rich repeat of GPIbα affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura

H. Saito, M. Hamaguchi, S. Kunishima, 2006, European journal of haematology.

Adams–Oliver syndrome and familial MYH9 mutation

E. Ito, Tohru Takahashi, S. Kunishima, 2012, Pediatrics international : official journal of the Japan Pediatric Society.

PF684 ANAGRELIDE MODULATES PROPLATELET FORMATION RESULTING IN DECREASED NUMBER AND INCREASED SIZE OF PLATELETS

S. Kunishima, M. Onozawa, N. Miyashita, 2019, HemaSphere.

Anagrelide Modulates Proplatelet Formation Resulting in Decreased Number and Increased Size of Platelets

S. Kunishima, T. Teshima, M. Onozawa, 2019, HemaSphere.

Thrombosis from a prothrombin mutation conveying antithrombin resistance.

T. Naoe, T. Murate, H. Saito, 2012, The New England journal of medicine.

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 S.

Koji Yamamoto, J. Takamatsu, H. Saito, 2010, Thrombosis research.

In vitro characterization of missense mutations associated with quantitative protein S deficiency

T. Naoe, T. Murate, J. Takamatsu, 2006, Journal of thrombosis and haemostasis : JTH.

Transient macrothrombocytopenia associated with maternal-neonatal HPA-21bw incompatibility.

H. Saito, S. Kunishima, A. Hayakawa, 2013, Thrombosis research.

Increased but highly dispersed levels of plasma glycocalicin in patients with disseminated intravascular coagulation

T. Naoe, S. Kunishima, S. Kobayashi, 1996, European journal of haematology.

New enzyme-linked immunosorbent assay for glycocalicin in plasma.

T. Naoe, R. Ohno, S. Kunishima, 1991, Clinical chemistry.

Expression of low-frequency Ala108Pro substitution in the platelet glycoprotein Ibbeta gene.

C. Gassner, T. Kamiya, S. Kunishima, 2003, European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics.

Characterization of a patient with atypical amegakaryocytic thrombocytopenia

M. Migita, T. Kanaji, K. Izuhara, 2008, European journal of haematology.

A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia

S. Kunishima, T. Niiya, M. Yasukawa, 2015, Annals of Hematology.

Determination of Glycocalicin in Platelet Concentrate Supernatants Stored in a Synthetic Medium (Seto Solution)

T. Kamiya, S. Kunishima, K. Ozawa, 1998, Vox sanguinis.

Bernard-Soulier syndrome Kagoshima: Ser 444-->stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX.

T. Naoe, R. Ohno, S. Kunishima, 1994, Blood.

Chrome congestive heart failure

T. Naoe, R. Ohno, S. Kunishima, 1994 .

Activation and destruction of platelets in patients with rheumatic heart disease.

T. Naoe, R. Ohno, S. Kunishima, 1994, European heart journal.

Rapid detection of plasma glycocalicin by a latex agglutination test. A useful adjunct in the differential diagnosis of thrombocytopenia.

T. Naoe, R. Ohno, S. Kunishima, 1993, American journal of clinical pathology.

FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia

H. Saito, S. Kunishima, A. Hayakawa, 2010, Journal of Human Genetics.

Platelet glycoprotein (GP) V polymorphisms in Japanese.

T. Kamiya, S. Kunishima, K. Ozawa, 1999, Tissue antigens.

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

O. Ohara, T. Morisaki, H. Morisaki, 2015, European Journal of Human Genetics.

Efficacy of inchinkoto for a patient with liver fibrosis complicated with transient abnormal myelopoiesis in Down's syndrome

S. Kunishima, H. Kanehiro, M. Takeyama, 2011, Pediatrics international : official journal of the Japan Pediatric Society.

The synergistic effect of BCR signaling inhibitors combined with an HDAC inhibitor on cell death in a mantle cell lymphoma cell line

T. Naoe, H. Nagai, K. Hagiwara, 2015, Apoptosis.

Splenic Marginal Zone Lymphoma with Acquired von Willebrand Syndrome Diagnosed via Splenic Bleeding

S. Kunishima, Y. Komeno, N. Shibuya, 2017, Internal medicine.

A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibα gene in a patient with Bernard–Soulier syndrome

M. Uchiyama, S. Kunishima, C. Imai, 2009, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Further Characterization of Anti-Platelet Monoclonal Antibody HPL5 as Anti-Glycoprotein V Antibody

H. Saito, A. Takagi, T. Kojima, 2006, Acta Haematologica.

Expression of Glycoprotein Ib/IX/V complex in Endothelial Cells

S. Kunishima, 1998 .

A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding , thrombotic and platelet disorders

Sri V. V. Deevi, W. Ouwehand, J. Jolley, 2015 .

Bernard-Soulier Syndrome due to GPIX W127X Mutation in Japan Is Frequently Misdiagnosed as Idiopathic Thrombocytopenic Purpura

H. Saito, M. Hamaguchi, S. Kunishima, 2006, International journal of hematology.

Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.

H. Saito, M. Hamaguchi, S. Kunishima, 2006, European journal of haematology.

Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.

T. Naoe, H. Saito, T. Kamiya, 1997, Blood.

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

S. Miyano, Y. Shiraishi, K. Chiba, 2017, Genetics in Medicine.

Interaction of von Willebrand factor with the extracellular matrix and glycocalicin under static conditions.

K. Titani, T. Naoe, Y. Fujimura, 1997, Journal of biochemistry.

[A case of chronic neutrophilic leukemia with abnormal karyotype].

S. Kunishima, N. Fujishiro, R. Ohno, 1989, Rinsho byori. The Japanese journal of clinical pathology.

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

R. Kosaki, A. Ishiguro, S. Kunishima, 2018, Journal of Medical Case Reports.

Leucine-rich repeat family

S. Kunishima, 2015 .

Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype

H. Shimada, Y. Kanakura, Y. Tomiyama, 2013, Molecular genetics & genomic medicine.

Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

T. Kaname, A. Ishiguro, K. Yanagi, 2022, International Journal of Hematology.

A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers.

H. Kaneko, T. Fukao, K. Kasahara, 2010, Thrombosis research.

Measurement of immature platelet fraction is useful in the differential diagnosis of MYH9 disorders

T. Kaname, A. Ishiguro, S. Kunishima, 2023, International journal of laboratory hematology.

Successful administration of eltrombopag in preparation for peritoneal dialysis catheter placement in a girl with MYH9-related disease.

M. Hattori, S. Kunishima, K. Ishizuka, 2023, CEN case reports.

Efficacy of neutrophil non-muscle myosin heavy chain-IIA immunofluorescence analysis in determining the pathogenicity of MYH9 variants

S. Kojima, H. Muramatsu, Yoshiyuki Takahashi, 2017, Annals of Hematology.

The synergistic effect of BCR signaling inhibitors combined with an HDAC inhibitor on cell death in a mantle cell lymphoma cell line

T. Naoe, H. Nagai, K. Hagiwara, 2015, Apoptosis.

A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia

A. Takata, N. Matsumoto, M. Shiina, 2018, Clinical genetics.

A case of myelofibrosis with myeloid metaplasia with JAK2V617F mutation who developed fibrous tumours in multiple organs

S. Ichihara, H. Saito, H. Nagai, 2006, European Journal of Haematology.

Gata‐1 transcription factor is mutated in cmk megakaryoblastic cell line

H. Saito, T. Kojima, T. Kamiya, 2003, British journal of haematology.

THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders