Valeria Bozzi Selected Research

MYH9-Related Disorders

2/2019	MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.
2/2014	MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
1/2012	Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
10/2011	Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.
4/2010	MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
12/2009	MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.
7/2009	Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation.
7/2009	Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.
12/2008	Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines.
3/2008	Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

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Valeria Bozzi Research Topics

Disease

10	Thrombocytopenia (Thrombopenia) 01/2022 - 07/2009
10	MYH9-Related Disorders 02/2019 - 03/2008
4	Hemorrhage 01/2022 - 03/2011
1	Cataract (Cataracts) 02/2019
1	Deafness (Deaf Mutism) 02/2019
1	Congenital amegakaryocytic thrombocytopenia 01/2018
1	Bone Marrow Failure Disorders 01/2018
1	Infections 01/2018
1	Neoplasms (Cancer) 01/2017
1	Thrombocytopenia chromosome breakage 01/2017
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 01/2017
1	Crohn Disease (Crohn's Disease) 07/2015
1	Bernard-Soulier Syndrome (Giant Platelet Syndrome) 03/2011
1	Disease Progression 05/2007
1	Sarcoidosis (Schaumann Disease) 03/2007
1	Granuloma 03/2007
1	Autoimmune Lymphoproliferative Syndrome 11/2006
1	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome) 11/2006

Drug/Important Bio-Agent (IBA)

6	Nonmuscle Myosin Type IIAIBA 10/2011 - 03/2008
4	Myosin Heavy Chains (Myosin Heavy Chain)IBA 02/2019 - 03/2008
3	EnzymesIBA 01/2022 - 01/2012
2	eltrombopag FDA Link 01/2019 - 12/2010
2	Thrombopoietin (c-mpl Ligand)IBA 01/2018 - 12/2010
2	5' Untranslated Regions (5' UTR)IBA 01/2017 - 01/2011
2	Collagen Type I (Type I Collagen)IBA 10/2011 - 07/2009
2	LigandsIBA 05/2007 - 03/2007
1	Adenosine Diphosphate (ADP)IBA 01/2022
1	Transcription Factors (Transcription Factor)IBA 01/2022
1	convulxinIBA 01/2019
1	CollagenIBA 01/2019
1	4,5,6,7- tetrahydroisoxazolo(4,5- c)pyridin- 3- ol (THPO)IBA 01/2018
1	romiplostim FDA Link 01/2018
1	NucleotidesIBA 01/2017
1	Fibrinogen (Factor I)FDA Link 11/2016
1	Indoleamine-Pyrrole 2,3,-Dioxygenase (Indoleamine 2,3 Dioxygenase)IBA 07/2015
1	AntigensIBA 07/2015
1	von Willebrand FactorIBA 03/2011
1	Thrombopoietin ReceptorsIBA 12/2010
1	Complementary DNA (cDNA)IBA 12/2008
1	Receptor for Advanced Glycation End ProductsIBA 03/2007
1	S100A12 ProteinIBA 03/2007
1	Death Domain ReceptorsIBA 11/2006
1	PerforinIBA 11/2006

Therapy/Procedure

1	Therapeutics 01/2018
1	Hematopoietic Stem Cell Transplantation 01/2018
1	Platelet Transfusion (Blood Platelet Transfusions) 12/2010
1	Transjugular Intrahepatic Portasystemic Shunt 07/2009