Marco Seri Selected Research

Nonmuscle Myosin Type IIA

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.
3/2008	Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
1/2003	Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome).
4/2002	Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.

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Marco Seri Research Topics

Disease

9	Thrombocytopenia (Thrombopenia) 01/2022 - 05/2006
9	MYH9-Related Disorders 02/2014 - 02/2002
4	Epilepsy (Aura) 01/2021 - 02/2013
4	Intellectual Disability (Idiocy) 03/2019 - 08/2007
3	Paraplegia (Spastic Paraplegia) 04/2022 - 10/2011
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 10/2019
3	Neoplasms (Cancer) 01/2020 - 01/2017
2	Hemorrhage 01/2022 - 01/2019
2	Partial Epilepsies (Epilepsy, Partial) 01/2022 - 01/2019
2	Cataract (Cataracts) 01/2020 - 05/2006
2	Ataxia (Dyssynergia) 01/2020 - 08/2007
2	Chronic Kidney Failure (Chronic Renal Failure) 01/2020 - 12/2001
2	Renal Insufficiency (Renal Failure) 01/2020 - 01/2003
2	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2020 - 01/2018
2	Carcinogenesis 01/2020 - 10/2013
2	Cataplexy 01/2020 - 06/2014
2	Sensorineural Hearing Loss 01/2018 - 05/2006
2	Dystonia (Limb Dystonia) 04/2015 - 10/2011
2	Glomerulonephritis 05/2006 - 01/2003
2	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2003 - 12/2001
2	Proteinuria 01/2003 - 12/2001
1	Seizures (Absence Seizure) 01/2022
1	Retinal Dystrophies 07/2021
1	Retinal Diseases 07/2021
1	Cytopenia 01/2021
1	Idiopathic Thrombocytopenic Purpura (Thrombocytopenic Purpura, Autoimmune) 01/2021
1	Autoimmune Hemolytic Anemia (Cold Agglutinin Disease) 01/2021
1	Fibrosis (Cirrhosis) 01/2021
1	Neutropenia 01/2021
1	Lymphopenia (Lymphocytopenia) 01/2021
1	Neurodevelopmental Disorders 01/2021
1	Evans Syndrome 01/2021
1	Focal Cortical Dysplasia 10/2020
1	Hyperammonemia 01/2020
1	Cutis Laxa 01/2020
1	Optic Atrophy 01/2020
1	Joint Instability (Joint Laxity) 01/2020
1	Macular Degeneration (Age-Related Maculopathy) 01/2020
1	Microcephaly 10/2019
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2019
1	Hereditary Spastic Paraplegia 01/2019
1	Hyperargininemia 01/2019
1	Inborn Urea Cycle Disorders 01/2019
1	Neoplasm Metastasis (Metastasis) 09/2018
1	Glycogen Storage Disease Type VI (Glycogenosis Type VI) 09/2018
1	progressive familial intrahepatic 1 Cholestasis 08/2018
1	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 01/2018
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 01/2017
1	Thrombocytopenia chromosome breakage 01/2017
1	CADASIL 06/2015
1	Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction) 04/2015
1	Muscle Hypotonia (Hypotonia) 04/2015
1	Neurologic Manifestations (Neurological Manifestations) 04/2015

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 01/2020 - 06/2005
5	DNA (Deoxyribonucleic Acid)IBA 10/2020 - 12/2002
5	Myosin Heavy Chains (Myosin Heavy Chain)IBA 02/2014 - 02/2002
5	Nonmuscle Myosin Type IIAIBA 10/2011 - 04/2002
4	Thrombopoietin (c-mpl Ligand)IBA 01/2018 - 09/2007
3	Mitochondrial DNA (mtDNA)IBA 01/2021 - 10/2013
3	5' Untranslated Regions (5' UTR)IBA 01/2017 - 08/2009
3	EnzymesIBA 01/2013 - 03/2005
2	LipidsIBA 01/2022 - 05/2008
2	Mechanistic Target of Rapamycin Complex 1IBA 01/2022 - 01/2019
2	Phosphotransferases (Kinase)IBA 01/2020 - 03/2007
2	Nonsense Codon (Nonsense Mutation)IBA 08/2007 - 03/2003
2	NPHS2 proteinIBA 01/2003 - 12/2001
1	sperm releasing substanceIBA 04/2022
1	Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA 01/2022
1	Transcription Factors (Transcription Factor)IBA 01/2022
1	ElastinIBA 01/2021
1	Inosine Triphosphate (ITP)IBA 01/2021
1	Adaptor Protein Complex 1IBA 01/2021
1	Immunoglobulins (Immunoglobulin)IBA 01/2021
1	Formaldehyde (Formol)FDA Link 10/2020
1	ParaffinIBA 10/2020
1	Cyclin-Dependent Kinase Inhibitor p16IBA 01/2020
1	Mitogen-Activated Protein Kinase 1 (p42 MAP Kinase)IBA 01/2020
1	Protein Kinases (Protein Kinase)IBA 01/2020
1	Retinaldehyde (Retinal)IBA 01/2020
1	MethyltransferasesIBA 01/2020
1	SphingolipidsIBA 10/2019
1	Pyruvic Acid (Pyruvate)IBA 10/2019
1	ChromatinIBA 03/2019
1	Sirolimus (Rapamycin)FDA Link 01/2019
1	convulxinIBA 01/2019
1	trans-sodium crocetinate (crocetin)IBA 01/2019
1	HHH syndromeIBA 01/2019
1	CollagenIBA 01/2019
1	Urea (Carbamide)FDA LinkGeneric 01/2019
1	Glutamic Acid (Glutamate)FDA Link 01/2019
1	Adenosine Triphosphate (ATP)IBA 08/2018
1	Monomeric GTP-Binding ProteinsIBA 01/2018
1	dirhodium tetraacetate (DRTA)IBA 01/2018
1	NucleotidesIBA 01/2017
1	Fibrinogen (Factor I)FDA Link 11/2016
1	Notch ReceptorsIBA 06/2015
1	Messenger RNA (mRNA)IBA 04/2015
1	Apolipoprotein B-48IBA 04/2015

Therapy/Procedure

3	Therapeutics 07/2021 - 02/2013
2	Transplantation 01/2020 - 12/2001