Francesco Emma Selected Research

Donnai-Barrow syndrome

8/2021	Corrigendum to Flemming J, Marczenke M, Rudolph I-M, et al. Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. Kidney Int. 2020;98:159-167.
12/2020	Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease.
1/2020	Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome.

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Francesco Emma Research Topics

Disease

28	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2022 - 05/2003
27	Cystinosis 01/2022 - 02/2006
14	Proteinuria 01/2022 - 05/2003
13	Chronic Kidney Failure (Chronic Renal Failure) 11/2021 - 11/2006
10	Renal Insufficiency (Renal Failure) 01/2022 - 06/2003
8	Fanconi Syndrome (Syndrome, Fanconi) 01/2020 - 09/2013
6	Rare Diseases (Rare Disease) 12/2021 - 01/2012
5	Lysosomal Storage Diseases (Lysosomal Storage Disease) 11/2021 - 01/2016
5	Hypertension (High Blood Pressure) 01/2021 - 08/2005
5	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 01/2020 - 05/2003
5	Infections 10/2019 - 06/2009
4	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 12/2021 - 01/2019
3	Kidney Diseases (Kidney Disease) 01/2022 - 01/2021
3	Acidosis 12/2021 - 07/2014
3	Donnai-Barrow syndrome 08/2021 - 01/2020
3	Atypical Hemolytic Uremic Syndrome 02/2021 - 12/2013
3	Cystinuria 01/2021 - 01/2010
3	Chronic Renal Insufficiency 12/2020 - 03/2016
3	Membranous Glomerulonephritis (Membranous Nephropathy) 11/2020 - 03/2015
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2020 - 03/2006
3	Autosomal Dominant Polycystic Kidney (ADPKD) 11/2019 - 03/2016
3	Disease Progression 07/2019 - 05/2007
2	Bartter Syndrome (Syndrome, Bartter) 11/2022 - 01/2021
2	Hyperparathyroidism 11/2022 - 01/2019
2	Coenzyme Q10 Deficiency 01/2022 - 01/2022
2	Inborn Genetic Diseases (Disease, Hereditary) 12/2021 - 07/2019
2	Acute Kidney Injury (Acute Renal Failure) 01/2021 - 11/2012
2	Alkalosis 01/2021 - 03/2006
2	Tetanus 01/2021 - 01/2019
2	Systemic Lupus Erythematosus (Libman-Sacks Disease) 01/2021 - 01/2015
2	IGA Glomerulonephritis (IGA Nephropathy) 01/2020 - 03/2005
2	Segmental glomerulosclerosis 01/2020 - 01/2006
2	Cysts 07/2019 - 03/2016
2	Membranoproliferative Glomerulonephritis (Membranoproliferative Glomerulonephritis, Type II) 03/2016 - 03/2012
2	Hereditary Nephritis (Alport Syndrome) 05/2013 - 07/2010
2	Dent Disease 10/2009 - 09/2006
1	Gitelman Syndrome 11/2022
1	Hyperparathyroidism 2 11/2022
1	Primary Hyperoxaluria (Oxaluria, Primary) 01/2022
1	Neurologic Manifestations (Neurological Manifestations) 01/2022
1	Hearing Loss (Hearing Impairment) 01/2022
1	Sensorineural Hearing Loss 01/2022
1	Chronic Disease (Chronic Diseases) 12/2021

Drug/Important Bio-Agent (IBA)

22	Cystine (L-Cystine)IBA 11/2021 - 05/2008
12	SteroidsIBA 11/2021 - 05/2003
9	Cysteamine (Mercaptamine)FDA Link 11/2021 - 11/2010
8	Pharmaceutical PreparationsIBA 01/2022 - 08/2005
7	Rituximab (Mabthera)FDA Link 01/2022 - 04/2014
7	SymportersIBA 11/2021 - 08/2012
7	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2007
6	AntibodiesIBA 10/2021 - 12/2013
5	Prednisone (Sone)FDA LinkGeneric 01/2022 - 01/2017
5	Protons (Proton)IBA 12/2021 - 09/2014
5	SaltsIBA 01/2021 - 09/2005
5	NPHS2 proteinIBA 07/2013 - 05/2003
4	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2022 - 01/2017
4	Complement System Proteins (Complement)IBA 09/2016 - 12/2013
4	Cyclosporine (Ciclosporin)FDA LinkGeneric 07/2010 - 09/2004
3	Phosphates (Orthophosphate)IBA 11/2022 - 01/2016
3	CalciumIBA 11/2022 - 01/2012
3	dirhodium tetraacetate (DRTA)IBA 12/2021 - 01/2019
3	Mycophenolic Acid (Cellcept)FDA LinkGeneric 11/2021 - 03/2005
3	ofatumumab FDA Link 10/2021 - 01/2017
3	Low Density Lipoprotein Receptor-Related Protein-2IBA 08/2021 - 01/2020
3	Immunoglobulin G (IgG)IBA 01/2021 - 03/2015
3	Mitochondrial DNA (mtDNA)IBA 01/2020 - 03/2006
3	Protein Isoforms (Isoforms)IBA 01/2017 - 09/2006
2	ubiquinone 6IBA 01/2022 - 01/2022
2	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2021
2	coenzyme Q10 (CoQ10)IBA 01/2022 - 05/2016
2	Blood Proteins (Serum Proteins)IBA 01/2022 - 01/2020
2	GlucocorticoidsIBA 11/2021 - 05/2008
2	Calcineurin InhibitorsIBA 10/2021 - 10/2017
2	Monoclonal AntibodiesIBA 10/2021 - 01/2017
2	LigandsIBA 08/2021 - 01/2020
2	eculizumab FDA Link 02/2021 - 03/2012
2	AntigensIBA 01/2021 - 12/2019
2	AlkaliesIBA 01/2021 - 01/2010
2	Immunoglobulin M (IgM)IBA 01/2021 - 10/2019
2	TinIBA 01/2021 - 11/2006
2	Neprilysin (Neutral Endopeptidase)IBA 12/2019 - 03/2015
2	Tolvaptan FDA Link 07/2019 - 03/2016
2	Immunoglobulins (Immunoglobulin)IBA 01/2019 - 03/2016
2	Levamisole (Decaris)FDA Link 01/2019 - 01/2018
2	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 01/2018 - 09/2009
2	ElectrolytesIBA 04/2017 - 07/2014
2	ThrombomodulinIBA 09/2016 - 12/2013
2	CopperIBA 01/2016 - 09/2013
2	Peptidyl-Dipeptidase A (Angiotensin Converting Enzyme)IBA 08/2005 - 03/2005
1	Parathyroid Hormone (Parathormone)IBA 11/2022
1	glyoxylic acid (glyoxylate)IBA 01/2022
1	belimumabIBA 01/2022
1	RNA (Ribonucleic Acid)IBA 11/2021
1	Disulfiram (Antabuse)FDA Link 11/2021
1	Complement C3 (C3 Complement)IBA 02/2021
1	Biotin (Vitamin H)FDA Link 01/2021

Therapy/Procedure

16	Therapeutics 01/2022 - 01/2006
5	Kidney Transplantation 01/2015 - 06/2003
2	Transplantation 01/2020 - 05/2007
2	Renal Dialysis (Hemodialysis) 05/2015 - 09/2013