John Rendu Selected Research

Oculocerebrorenal Syndrome (Lowe Syndrome)

1/2021	Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
2/2018	"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".
1/2017	Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
4/2011	From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
4/2010	Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.

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John Rendu Research Topics

Disease

10	Muscular Diseases (Myopathy) 01/2022 - 07/2013
5	Oculocerebrorenal Syndrome (Lowe Syndrome) 01/2021 - 04/2010
5	Central Core Myopathy (Central Core Disease) 01/2021 - 07/2013
5	Muscle Weakness 11/2020 - 11/2015
3	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2021 - 12/2014
2	Nemaline Myopathies (Nemaline Myopathy) 01/2022 - 01/2021
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 12/2019
2	Malignant Hyperthermia 01/2021 - 11/2017
1	Muscular Dystrophies (Muscular Dystrophy) 05/2022
1	Neuromuscular Diseases (Neuromuscular Disease) 01/2022
1	Inflammation (Inflammations) 01/2022
1	Hypoxia (Hypoxemia) 01/2022
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 10/2021
1	Polymorphic catecholergic ventricular tachycardia 10/2021
1	Thrombosis (Thrombus) 01/2021
1	Chronic Granulomatous Disease 01/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 12/2020
1	Atrophy 11/2020
1	Glioblastoma (Glioblastoma Multiforme) 01/2020
1	Glioma (Gliomas) 01/2020
1	Neoplasms (Cancer) 01/2020
1	Glycogen Storage Disease Type II (Pompe's Disease) 12/2018
1	Muscular Atrophy (Muscle Atrophy) 01/2018
1	Communicable Diseases (Infectious Diseases) 01/2017
1	Microcephaly 01/2017
1	Pneumocystis Pneumonia (Pneumocystis carinii Pneumonia) 01/2017
1	Membranous Glomerulonephritis (Membranous Nephropathy) 12/2016
1	Mannose-Binding Protein Deficiency 12/2016
1	Male Infertility (Male Sterility) 01/2014
1	Dent Disease 04/2011

Drug/Important Bio-Agent (IBA)

8	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022 - 07/2013
4	Proteins (Proteins, Gene)FDA Link 01/2022 - 11/2015
3	Myosins (Myosin)IBA 12/2020 - 11/2015
3	CalciumIBA 01/2018 - 07/2013
2	CollagenIBA 01/2021 - 12/2018
2	Calcium Channels (Calcium Channel)IBA 11/2020 - 11/2015
2	Complement System Proteins (Complement)IBA 01/2020 - 12/2016
1	Laminin (Merosin)IBA 05/2022
1	CitrullineIBA 01/2022
1	EnzymesIBA 01/2022
1	serum P-component (CIt)IBA 01/2022
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 01/2022
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 01/2022
1	Arginine (L-Arginine)FDA Link 01/2022
1	Calmodulin (Calcium-Dependent Activator Protein)IBA 10/2021
1	NADPH Oxidases (NAD(P)H oxidase)IBA 01/2021
1	rho GTPase-activating proteinIBA 01/2021
1	NADP (NADPH)IBA 01/2021
1	Biological ProductsIBA 01/2021
1	Fibrinogen (Factor I)FDA Link 01/2021
1	Troponin T (Troponin T1)IBA 01/2021
1	Staphylococcal Protein A (Protein A)IBA 01/2021
1	Superoxides (Superoxide)IBA 01/2021
1	Synaptotagmin IIIBA 12/2020
1	Tamoxifen FDA LinkGeneric 11/2020
1	Cell ExtractsIBA 01/2020
1	Glutathione (Reduced Glutathione)IBA 12/2019
1	Phosphatidylinositols (Phosphatidylinositol)IBA 02/2018
1	Phosphotransferases (Kinase)IBA 01/2017
1	Inositol Polyphosphate 5-PhosphatasesIBA 01/2017
1	Immunoglobulin G (IgG)IBA 12/2016
1	Phospholipase A2 ReceptorsIBA 12/2016
1	AutoantibodiesIBA 12/2016
1	Codon (Codons)IBA 12/2016
1	LectinsIBA 12/2016
1	Mannose-Binding Lectin (Mannan-Binding Lectin)IBA 12/2016
1	Peptide Hydrolases (Proteases)FDA Link 01/2016
1	Dynamin IIIBA 12/2014
1	amphiphysinIBA 12/2014
1	Dyneins (Dynein)IBA 01/2014
1	Nonsense Codon (Nonsense Mutation)IBA 04/2011
1	Initiator Codon (Start Codon)IBA 04/2011

Therapy/Procedure

2	Therapeutics 01/2022 - 07/2013
1	Defibrillators (Defibrillator) 10/2021
1	Precision Medicine 01/2021
1	Lasers (Laser) 01/2020
1	Organ Transplantation 01/2017
1	Ligation 04/2010