Lambertus P. van den Heuvel : rechercher sur Z-Library

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1

Gain of function mutant of complement factor B K323E mimics pathogenic C3NeF autoantibodies in convertase assays

Urban, Aleksandra, Borowska, Anna, Felberg, Anna, van den Heuvel, Lambertus, Stasiłojć, Grzegorz, Volokhina, Elena, Okrój, Marcin

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 952 KB

english, 2018

2

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis

Elmonem, Mohamed A, Makar, Samuel H, van den Heuvel, Lambertus, Abdelaziz, Hanan, Abdelrahman, Safaa M, Bossuyt, Xavier, Janssen, Mirian C, Cornelissen, Elisabeth, Lefeber, Dirk J, Joosten, Leo, Nabha

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 862 KB

english, 2014

3

Cystinosis: a review

Elmonem, Mohamed A., Veys, Koenraad R., Soliman, Neveen A., van Dyck, Maria, van den Heuvel, Lambertus P., Levtchenko, Elena

Journal:

Orphanet Journal of Rare Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 2.22 MB

english, 2016

4

Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes1

Calo, Lorenzo, Ceolotto, Giulio, Milani, Monia, Pagnin, Elisa, Van Den Heuvel, Lambertus P., Sartori, Michelangelo, Davis, Paul A., Costa, Rodolfo, Semplicini, Andrea

Journal:

Kidney International

Année:

2001

Langue:

english

Fichier:

PDF, 2.40 MB

english, 2001

5

Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency

Assink, Karin, Schiphorst, Rikke, Allford, Sarah, Karpman, Diana, Etzioni, Amos, Brichard, Benedicte, Van De Kar, Nicole, Monnens, Leo, Van Den Heuvel, Lambertus

Journal:

Kidney International

Année:

2003

Langue:

english

Fichier:

PDF, 488 KB

english, 2003

6

Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome

Patrick G. Starremans, Annemiete W. van der Kemp, Nine V. Knoers, Lambertus P. van den Heuvel, René J. Bindels

Journal:

Pflügers Archiv European Journal of Physiology

Année:

2002

Langue:

english

Fichier:

PDF, 226 KB

english, 2002

7

Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters

Martijn J. Wilmer, Moin A. Saleem, Rosalinde Masereeuw, Lan Ni, Thea J. van der Velden, Frans G. Russel, Peter W. Mathieson, Leo A. Monnens, Lambertus P. van den Heuvel, Elena N. Levtchenko

Journal:

Cell and Tissue Research

Année:

2010

Langue:

english

Fichier:

PDF, 341 KB

english, 2010

8

Elevated levels of vascular endothelial growth factor in serum of patients with D+ HUS

D. Maroeska te Loo, Nienke Bosma, Victor Hinsbergh, Paul Span, Rob Waal, Ruud Clarijs, C. Sweep, Leo Monnens, Lambertus van den Heuvel

Journal:

Pediatric Nephrology

Année:

2004

Langue:

english

Fichier:

PDF, 327 KB

english, 2004

9

Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis

Elena N. Levtchenko, Carin M. van Dael, Addy C. de Graaf-Hess, Martijn J. G. Wilmer, Lambertus P. van den Heuvel, Leo A. Monnens, Henk J. Blom

Journal:

Pediatric Nephrology

Année:

2006

Langue:

english

Fichier:

PDF, 146 KB

english, 2006

10

Shiga toxin-1 affects nitric oxide production by human glomerular endothelial and mesangial cells

D. Maroeska te Loo, Leo Monnens, Thea van der Velden, Mohammed Karmali, Lambertus van den Heuvel, Victor van Hinsbergh

Journal:

Pediatric Nephrology

Année:

2006

Langue:

english

Fichier:

PDF, 323 KB

english, 2006

11

A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome

Joyce Geelen, Koen van den Dries, Anja Roos, Nicole van de Kar, Corrie de Kat Angelino, Ina Klasen, Leo Monnens, Lambertus van den Heuvel

Journal:

Pediatric Nephrology

Année:

2007

Langue:

english

Fichier:

PDF, 175 KB

english, 2007

12

Interactions of Shiga-like toxin with human peripheral blood monocytes

Joyce M. Geelen, Thea J. A. M. van der Velden, Lambertus P. W. J. van den Heuvel, Leo A. H. Monnens

Journal:

Pediatric Nephrology

Année:

2007

Langue:

english

Fichier:

PDF, 209 KB

english, 2007

13

Cystinosis: practical tools for diagnosis and treatment

Martijn J. Wilmer, Joost P. Schoeber, Lambertus P. van den Heuvel, Elena N. Levtchenko

Journal:

Pediatric Nephrology

Année:

2011

Langue:

english

Fichier:

PDF, 302 KB

english, 2011

14

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

Mailys Guillard, Yoshinao Wada, Hana Hansikova, Isao Yuasa, Katerina Vesela, Nina Ondruskova, Machiko Kadoya, Alice Janssen, Lambertus P. W. J. Van den Heuvel, Eva Morava, Jiri Zeman, Ron A. Wevers, D

Journal:

Journal of Inherited Metabolic Disease

Année:

2011

Langue:

english

Fichier:

PDF, 272 KB

english, 2011

15

The Use of CDME in Cystinosis Research

Martijn J. Wilmer, Lambertus P. van den Heuvel, Elena N. Levtchenko

Journal:

Neurochemical Research

Année:

2008

Langue:

english

Fichier:

PDF, 142 KB

english, 2008

16

Effects of TNFα on verocytotoxin cytotoxicity in purified human glomerular microvascular endothelial cells

van Setten, Petra A, van Hinsbergh, Victor W M, van der Velden, Thea J A N, van de Kar, Nicole C A J, Vermeer, Mario, Mahan, John D, Assmann, Karel J M, van den Heuvel, Lambertus P W J, Monnens, Leo A

Journal:

Kidney International

Année:

1997

Langue:

english

Fichier:

PDF, 1.40 MB

english, 1997

17

Anticardiolipin antibodies in D+ hemolytic uremic syndrome

te Loo, Maroeska, van der Velden, Thea, Onland, Wes, van den Heuvel, Lambertus, Monnens, Leo

Journal:

Pediatric Nephrology

Année:

2002

Langue:

english

Fichier:

PDF, 163 KB

english, 2002

18

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

Merei Huigsloot, Leo G. Nijtmans, Radek Szklarczyk, Marieke J.H. Baars, Mariël A.M. van den Brand, Marthe G.M. HendriksFranssen, Lambertus P. van den Heuvel, Jan A.M. Smeitink, Martijn A. Huynen, Rich

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 493 KB

english, 2011

19

Urinary Protein Excretion Pattern and Renal Expression of Megalin and Cubilin in Nephropathic Cystinosis

Martijn J. Wilmer, Erik I. Christensen, Lambertus P. van den Heuvel, Leo A. Monnens, Elena N. Levtchenko

Journal:

American Journal of Kidney Diseases

Année:

2008

Langue:

english

Fichier:

PDF, 8.00 MB

english, 2008

20

Cystine Dimethylester Model of Cystinosis: Still Reliable?

Wilmer, Martijn J, Willems, Peter H, Verkaart, Sjoerd, Visch, Henk-Jan, de Graaf-Hess, Adriana, Blom, Henk J, Monnens, Leo A, van den Heuvel, Lambertus P, Levtchenko, Elena N

Journal:

Pediatric Research

Année:

2007

Langue:

english

Fichier:

PDF, 290 KB

english, 2007

21

Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency

Henk-Jan Visch, Werner J.H. Koopman, Anouk Leusink, Sjenet E. van Emst-de Vries, Lambertus W.P.J. van den Heuvel, Peter H.G.M. Willems, Jan A.M. Smeitink

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2006

Langue:

english

Fichier:

PDF, 389 KB

english, 2006

22

Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency

Sjoerd Verkaart, Werner J.H. Koopman, Julia Cheek, Sjenet E. van Emst-de Vries, Lambertus W.P.J. van den Heuvel, Jan A.M. Smeitink, Peter H.G.M. Willems

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2007

Langue:

english

Fichier:

PDF, 556 KB

english, 2007

23

Superoxide production is inversely related to complex I activity in inherited complex I deficiency

Sjoerd Verkaart, Werner J.H. Koopman, Sjenet E. van Emst-de Vries, Leo G.J. Nijtmans, Lambertus W.P.J. van den Heuvel, Jan A.M. Smeitink, Peter H.G.M. Willems

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2007

Langue:

english

Fichier:

PDF, 370 KB

english, 2007

24

Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells

Martijn J. Wilmer, Leo A.J. Kluijtmans, Thea J. van der Velden, Peter H. Willems, Peter G. Scheffer, Rosalinde Masereeuw, Leo A. Monnens, Lambertus P. van den Heuvel, Elena N. Levtchenko

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2011

Langue:

english

Fichier:

PDF, 655 KB

english, 2011

25

Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells

Martijn J.G. Wilmer, Adriana de Graaf-Hess, Henk J. Blom, Henry B.P.M. Dijkman, Leo A. Monnens, Lambertus P. van den Heuvel, Elena N. Levtchenko

Journal:

Biochemical and Biophysical Research Communications

Année:

2005

Langue:

english

Fichier:

PDF, 210 KB

english, 2005

26

Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome

Rosa Vargas-Poussou, Delphine Feldmann, Martin Vollmer, Martin Konrad, Lisa Kelly, Lambertus P.W.J. van den Heuvel, Lamia Tebourbi, Matthias Brandis, Lothar Karolyi, Steven C. Hebert, Henny H. Lemmink

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 667 KB

english, 1998

27

Hyperuricemia influences tryptophan metabolism via inhibition of multidrug resistance protein 4 (MRP4) and breast cancer resistance protein (BCRP)

Dankers, Anita C.A., Mutsaers, Henricus A.M., Dijkman, Henry B.P.M., van den Heuvel, Lambertus P., Hoenderop, Joost G., Sweep, Fred C.G.J., Russel, Frans G.M., Masereeuw, Rosalinde

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2013

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2013

28

Effect of NSAIDs and Diuretics on Nephrogenesis in an Ex Vivo Embryogenic Kidney Model

Bueters, Ruud RG, Klaasen, Annelies, van den Heuvel, Lambertus P, Schreuder, Michiel F

Journal:

Birth Defects Research Part B: Developmental and Reproductive Toxicology

Année:

2013

Langue:

english

Fichier:

PDF, 701 KB

english, 2013

29

Antibiotics and renal branching morphogenesis: comparison of toxicities

Bueters, Ruud R.G., Kusters, Lisanne J.A., Klaasen, Annelies, van den Heuvel, Lambertus P., Schreuder, Michiel F.

Journal:

Pediatric Research

Année:

2014

Langue:

english

Fichier:

PDF, 531 KB

english, 2014

30

The Functional Implications of Common Genetic Variation in CYP3A5 and ABCB1 in Human Proximal Tubule Cells

Knops, Noël, van den Heuvel, Lambertus P., Masereeuw, Rosalinde, Bongaers, Inge, de Loor, Henriëtte, Levtchenko, Elena, Kuypers, Dirk

Journal:

Molecular Pharmaceutics

Année:

2015

Langue:

english

Fichier:

PDF, 2.71 MB

english, 2015

31

Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome

Lemmink, Henny H., MochlzukJ, Toshlo, van den Heuvel, Lambertus P.W.J., Schröder, Cornells H., Barrientos, Alberto, Monnens, Leo A.H., van Oost, Bernard A., Brunner, Han G., Reeders, Stephen T., Smeet

Journal:

Human Molecular Genetics

Année:

1994

Langue:

english

Fichier:

PDF, 1.80 MB

english, 1994

32

Sensitive, reliable and easy-performed laboratory monitoring of eculizumab therapy in atypical hemolytic uremic syndrome

Volokhina, Elena B., van de Kar, Nicole C.A.J., Bergseth, Grethe, van der Velden, Thea J.A.M., Westra, Dineke, Wetzels, Jack F.M., van den Heuvel, Lambertus P., Mollnes, Tom Eirik

Journal:

Clinical Immunology

Année:

2015

Langue:

english

Fichier:

PDF, 440 KB

english, 2015

33

Clinical utility gene card for: Cystinosis

Levtchenko, Elena, van den Heuvel, Lambertus, Emma, Francesco, Antignac, Corinne

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 128 KB

english, 2014

34

Autophagy in renal diseases

De Rechter, Stéphanie, Decuypere, Jean-Paul, Ivanova, Ekaterina, van den Heuvel, Lambertus P., De Smedt, Humbert, Levtchenko, Elena, Mekahli, Djalila

Journal:

Pediatric Nephrology

Année:

2016

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2016

35

Correct removal by splicing of a Neurospora intron in yeast

Woudt, Lambertus P., Heuvel, Johannes J.van den, Raamsdonk-Duin, Mary M.C.van, Mager, Willem H., Planta, Rudi J.

Journal:

Nucleic Acids Research

Année:

1985

Langue:

english

Fichier:

PDF, 3.05 MB

english, 1985

36

Decreased Intracellular ATP Content and Intact Mitochondrial Energy Generating Capacity in Human Cystinotic Fibroblasts

Levtchenko, Elena N, Wilmer, Martijn J G, Janssen, Antoon J M, Koenderink, Jan B, Visch, Henk-Jan, Willems, Peter H G M, de Graaf-Hess, Adriana, Blom, Henk J, van den Heuvel, Lambertus P, Monnens, Leo

Journal:

Pediatric Research

Année:

2006

Langue:

english

Fichier:

PDF, 413 KB

english, 2006

37

Detection of Apoptosis in Kidney Biopsies of Patients with D+ Hemolytic Uremic Syndrome

Te Loo, D Maroeska W M, Monnens, Leo A H, van den Heuvel, Lambertus P W J, Gubler, Marie C, Kockx, Mark M

Journal:

Pediatric Research

Année:

2001

Langue:

english

Fichier:

PDF, 298 KB

english, 2001

38

Mitochondrial Complex V Expression and Activity in Cystinotic Fibroblasts

Wilmer, Martijn J, van den Heuvel, Lambertus P, Rodenburg, Richard J, Vogel, Rutger O, Nijtmans, Leo G, Monnens, Leo A, Levtchenko, Elena N

Journal:

Pediatric Research

Année:

2008

Langue:

english

Fichier:

PDF, 309 KB

english, 2008

39

Proximal tubular efflux transporters involved in renal excretion of p-cresyl sulfate and p-cresyl glucuronide: Implications for chronic kidney disease pathophysiology

Mutsaers, Henricus A.M., Caetano-Pinto, Pedro, Seegers, Andries E.M., Dankers, Anita C.A., van den Broek, Petra H.H., Wetzels, Jack F.M., van den Brand, Jan A.J.G., van den Heuvel, Lambertus P., Hoend

Journal:

Toxicology in Vitro

Année:

2015

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2015

40

Altered mTOR signalling in nephropathic cystinosis

Ivanova, Ekaterina A., van den Heuvel, Lambertus P., Elmonem, Mohamed A., De Smedt, Humbert, Missiaen, Ludwig, Pastore, Anna, Mekahli, Djalila, Bultynck, Greet, Levtchenko, Elena N.

Journal:

Journal of Inherited Metabolic Disease

Année:

2016

Langue:

english

Fichier:

PDF, 2.18 MB

english, 2016

41

Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility

Ivanova, Ekaterina A., Arcolino, Fanny O., Elmonem, Mohamed A., Rastaldi, Maria P., Giardino, Laura, Cornelissen, Elisabeth M., van den Heuvel, Lambertus P., Levtchenko, Elena N.

Journal:

Kidney International

Année:

2016

Langue:

english

Fichier:

PDF, 3.14 MB

english, 2016

42

Fecal diagnostics in combination with serology: best test to establish STEC-HUS

Wijnsma, Kioa L., van Bommel, Sheila A. M., van der Velden, Thea, Volokhina, Elena, Schreuder, Michiel F., van den Heuvel, Lambertus P., van de Kar, Nicole C. A. J.

Journal:

Pediatric Nephrology

Année:

2016

Langue:

english

Fichier:

PDF, 386 KB

english, 2016

43

Impact of Early Postnatal NSAID Treatment on Nephrogenesis in Wistar Rats

Bueters, Ruud R. G., Klaasen, Annelies, Maicas, Nuria, Florquin, Sandrine, van den Heuvel, Lambertus P., Schreuder, Michiel F.

Journal:

Birth Defects Research Part B: Developmental and Reproductive Toxicology

Année:

2015

Langue:

english

Fichier:

PDF, 354 KB

english, 2015

44

Ca2+ signalling in human proximal tubular epithelial cells deficient for cystinosin

Ivanova, Ekaterina A., Elmonem, Mohamed A., Bongaerts, Inge, Luyten, Tomas, Missiaen, Ludwig, van den Heuvel, Lambertus P., Levtchenko, Elena N., Bultynck, Geert

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2016

45

Genetic changes predisposing to complement dysregulation and infection may play role in a case of atypical hemolytic uremic syndrome

Volokhina, Elena, Tahir, Omaima El, Kömhoff, Martin, Morre, Servaas, van Furth, Marceline, Singh, Birendra, Okroj, Marcin, van de Kar, Nicole, Riesbeck, Kristian, Blom, Anna, van den Heuvel, Lambertus

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 51 KB

english, 2016

46

Pharmacokinetics and pharmacodynamics of eculizumab in individualized treatment of atypical hemolytic uremic syndrome

Volokhina, Elena, Wijnsma, Kioa, Sweep, Fred, Brüggemann, Roger, Wetzels, Jack, van de Kar, Nicole, van den Heuvel, Lambertus

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 54 KB

english, 2016

47

Evaluation of carbohydrate-cysteamine thiazolidines as pro-drugs for the treatment of cystinosis

Ramazani, Yasaman, Levtchenko, Elena N., Van Den Heuvel, Lambertus, Van Schepdael, Ann, Paul, Prasanta, Ivanova, Ekaterina A., Pastore, Anna, Hartman, Trina M., Price, Neil P.J.

Journal:

Carbohydrate Research

Année:

2017

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2017

48

Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation

Knops, Noël, Herman, Jean, van Dyck, Maria, Ramazani, Yasaman, Debbaut, Edward, van Damme-Lombaerts, Rita, Levtchenko, Elena, van den Heuvel, Lambertus P., Fieuws, Steffen, Kuypers, Dirk

Journal:

British Journal of Clinical Pharmacology

Année:

2017

Langue:

english

Fichier:

PDF, 822 KB

english, 2017

49

Nephropathic cystinosis

Veys, Koenraad R., Elmonem, Mohamed A., Arcolino, Fanny O., van den Heuvel, Lambertus, Levtchenko, Elena

Journal:

Current Opinion in Pediatrics

Année:

2017

Langue:

english

Fichier:

PDF, 504 KB

english, 2017

50

Distribution and Function of PACAP and Its Receptors in the Healthy and Nephrotic Kidney

Eneman, Benedicte, van den Heuvel, Lambertus, Freson, Kathleen, Van Geet, Chris, Willemsen, Brigith, Dijkman, Henry, Levtchenko, Elena

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 897 KB

english, 2016