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7. The STAGED-PKD 2-stage adaptive study with a patient enrichment strategy and treatment effect modeling for improved study design efficiency in patients with ADPKD

Author

Perrone, R.D., Hariri, A., Minini, P., Ahn, C., Chapman, A.B., Horie, S., Knebelmann, B., Mrug, M., Ong, A.C.M., Pei, Y.P.C., Torres, V.E., Modur, V., and Gansevoort, R.T.

Abstract

Rationale & Objective\ud \ud Venglustat, a glucosylceramide synthase inhibitor, inhibits cyst growth and reduces kidney failure in mouse models of autosomal dominant polycystic kidney disease (ADPKD). STAGED-PKD aims to determine the safety and efficacy of venglustat and was designed using patient enrichment for progression to end-stage kidney disease and modeling from prior ADPKD trials.\ud \ud \ud \ud Study Design\ud \ud STAGED-PKD is a 2-stage, international, double-blind, randomized, placebo-controlled trial in adults with ADPKD (Mayo Class 1C-1E) and estimated glomerular filtration rate (eGFR) 45

Published
2022

8. The 2019 and 2021 International Workshops on Alport Syndrome.

Author

Daga, S, Ding, J, Deltas, C, Savige, J, Lipska-Ziętkiewicz, BS, Hoefele, J, Flinter, F, Gale, DP, Aksenova, M, Kai, H, Perin, L, Barua, M, Torra, R, Miner, JH, Massella, L, Ljubanović, DG, Lennon, R, Weinstock, AB, Knebelmann, B, Cerkauskaite, A, Gear, S, Gross, O, Turner, AN, Baldassarri, M, Pinto, AM, Renieri, A, Daga, S, Ding, J, Deltas, C, Savige, J, Lipska-Ziętkiewicz, BS, Hoefele, J, Flinter, F, Gale, DP, Aksenova, M, Kai, H, Perin, L, Barua, M, Torra, R, Miner, JH, Massella, L, Ljubanović, DG, Lennon, R, Weinstock, AB, Knebelmann, B, Cerkauskaite, A, Gear, S, Gross, O, Turner, AN, Baldassarri, M, Pinto, AM, and Renieri, A

Published
2022

9. POS-540 INTERIM ANALYSIS OF THE EAGLE TRIAL: AN OPEN-LABEL STUDY TO ASSESS THE LONG-TERM SAFETY AND TOLERABILITY OF BARDOXOLONE METHYL IN PATIENTS WITH ALPORT SYNDROME

Author

NOZU, K., primary, Appel, G., additional, Chin, M., additional, Fischbach, B., additional, Knebelmann, B., additional, Lieberman, K., additional, Meyer, C., additional, Pergola, P., additional, Rizk V., D., additional, Silva L., A., additional, Spinowitz, B., additional, Sprague M., S., additional, Torra Balcells, R., additional, and Zaoui, P., additional

Published
2022
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10. 085 Hypohidrosis, ichthyosis and hypokalemia: HELIX syndrome

Author

Fertitta, L., primary, Bolling, M.C., additional, Vargas, R., additional, van den Akker, P.C., additional, Bourrat, E., additional, van Geel, M., additional, Knebelmann, B., additional, Leclerc-Mercier, S., additional, Houillier, P., additional, and Hadj-Rabia, S., additional

Published
2021
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13. Correction to: Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments

Author

Bertholet-Thomas, A., Guittet, C., MANSO-SILVAN, M. A., CASTANG, A., Baudouin, V., Cailliez, M., DI Maio, M., GILLION-BOYER, O., GOLUBOVIC, E., HARAMBAT, Jerome, Klein, A., Knebelmann, B., Nobili, F., Novo, R., PODRACKA, L., Roussey-Kesler, G., STYLIANOU, C., GRANIER, L. A., Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)
Abstract

The published version of the article unfortunately contained a mistake.

Published
2021

14. Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness

Author

Schlingmann, K.P., Renigunta, A., Hoorn, E.J., Forst, A.L., Renigunta, V., Atanasov, V., Mahendran, S., Barakat, T.S., Gillion, V., Godefroid, N., Brooks, A.S., Lugtenberg, D., Lake, J., Debaix, H., Rudin, C., Knebelmann, B., Tellier, S., Rousset-Rouvière, C., Viering, D., Baaij, J.H.F. de, Weber, S., Palygin, O., Staruschenko, A., Kleta, R., Houillier, P., Bockenhauer, D., Devuyst, O., Vargas-Poussou, R., Warth, R., Zdebik, A.A., Konrad, M., Schlingmann, K.P., Renigunta, A., Hoorn, E.J., Forst, A.L., Renigunta, V., Atanasov, V., Mahendran, S., Barakat, T.S., Gillion, V., Godefroid, N., Brooks, A.S., Lugtenberg, D., Lake, J., Debaix, H., Rudin, C., Knebelmann, B., Tellier, S., Rousset-Rouvière, C., Viering, D., Baaij, J.H.F. de, Weber, S., Palygin, O., Staruschenko, A., Kleta, R., Houillier, P., Bockenhauer, D., Devuyst, O., Vargas-Poussou, R., Warth, R., Zdebik, A.A., and Konrad, M.

Abstract

Item does not contain fulltext, BACKGROUND: The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recycling for proper Na(+),K(+)-ATPase function but are also involved in potassium and pH sensing. Genetic defects in KCNJ10 cause EAST/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with epilepsy, ataxia, and sensorineural deafness. METHODS: A candidate gene approach and whole-exome sequencing determined the underlying genetic defect in eight patients with a novel disease phenotype comprising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness. Electrophysiologic studies and surface expression experiments investigated the functional consequences of newly identified gene variants. RESULTS: We identified mutations in the KCNJ16 gene encoding KCNJ16, which along with KCNJ15 and KCNJ10, constitutes the major basolateral potassium channel of the proximal and distal tubules, respectively. Coexpression of mutant KCNJ16 together with KCNJ15 or KCNJ10 in Xenopus oocytes significantly reduced currents. CONCLUSIONS: Biallelic variants in KCNJ16 were identified in patients with a novel disease phenotype comprising a variable proximal and distal tubulopathy associated with deafness. Variants affect the function of heteromeric potassium channels, disturbing proximal tubular bicarbonate handling as well as distal tubular salt reabsorption.

Published
2021

15. POS-496 INTERIM ANALYSIS OF THE EAGLE TRIAL: AN OPEN-LABEL STUDY TO ASSESS THE LONG-TERM SAFETY AND TOLERABILITY OF BARDOXOLONE METHYL IN PATIENTS WITH ALPORT SYNDROME

Author

Torra Balcells, R., primary, Appel B, G., additional, Fischbach, B., additional, Kandai, N., additional, Knebelmann, B., additional, Lieberman, K., additional, Meyer J, C., additional, Packham M, D., additional, Rastogi, A., additional, Rizk V, D., additional, Silva L, A., additional, Spinowitz, B., additional, Sprague M, S., additional, Zaoui, P., additional, and Pergola E, P., additional

Published
2021
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16. Clinicopathologic predictors of renal outcomes in light chain cast nephropathy: a multicenter retrospective study

Author

Royal, V, Leung, N, Troyanov, S, Nasr, Sh, Écotière, L, LeBlanc, R, Adam, BA, Angioi, A, Alexander, MP, Asunis, AM, Barreca, A, Bianco, PC, Cohen, C, Drosou, ME, Fatima, H, Fenoglio, R, Gougeon, F, Goujon, JM, Herrera, GA, Knebelmann, B, Lepori, N, Maletta, F, Manso, RT, Motwani, SS, Pani, A, Rabant, M, Rennke, HG, Rocatello, D, Rosenblum, F, Sanders, PW, Santos, A, and Soto, K, et al.

Subjects
Acute kidney injury
Abstract

Light chain cast nephropathy (LCCN) in multiple myeloma often leads to severe and poorly reversible acute kidney injury. Severe renal impairment influences the allocation of chemotherapy and its tolerability; it also affects patient survival. Whether renal biopsy findings add to the clinical assessment in predicting renal and patient outcomes in LCCN is uncertain. We retrospectively reviewed clinical presentation, chemotherapy regimens, hematologic response, and renal and patient outcomes in 178 patients with biopsy-proven LCCN from 10 centers in Europe and North America. A detailed pathology review, including assessment of the extent of cast formation, was performed to study correlations with initial presentation and outcomes. Patients presented with a mean estimated glomerular filtration rate (eGFR) of 13 ± 11 mL/min/1.73 m2, and 82% had stage 3 acute kidney injury. The mean number of casts was 3.2/mm2 in the cortex. Tubulointerstitial lesions were frequent: acute tubular injury (94%), tubulitis (82%), tubular rupture (62%), giant cell reaction (60%), and cortical and medullary inflammation (95% and 75%, respectively). Medullary inflammation, giant cell reaction, and the extent of cast formation correlated with eGFR value at LCCN diagnosis. During a median follow-up of 22 months, mean eGFR increased to 43 ± 30 mL/min/1.73 m2. Age, β2-microglobulin, best hematologic response, number of cortical casts per square millimeter, and degree of interstitial fibrosis/tubular atrophy (IFTA) were independently associated with a higher eGFR during follow-up. This eGFR value correlated with overall survival, independently of the hematologic response. This study shows that extent of cast formation and IFTA in LCCN predicts the quality of renal response, which, in turn, is associated with overall survival. info:eu-repo/semantics/publishedVersion

Published
2020

29. Kidney transplantation in patients with Fabry disease

Author

Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder Plassmann G, Binder C, Kotanko P, Kroepfl T, Plecko B, Bodamer O, Hauser AC, Kleinert J, Kristoferitsch W, Schreiber W, Georges B, Nassogne MC, Pirson Y, Dehout F, Henry F, Roland D, Vauthier L, Goyens P, Mazoin N, Van Maldergem L, Eyskens F, Bultas J, Karetová D, Linhart A, Dostalova G, Choukroun G, Berthelot J, Hardy P, Carey Reomonnay S, Lacombe D, Bataille P, Benziane S, Mittelberger JM, Thevenot C, Dobbelaere D, Hachulla E, Dussol B, Reade R, Khau van Kien A, Kaminsky P, Guyot C, Lino M, Ghafari T, Germain DP, Knebelmann B, Lidove O, Ouali N, Touati G, Monlun E, Jaussaud R, Richalet B, Klotz V, Andres E, Caraman D, Bazex J, Perrichot R, Hennermann J, von Arnim Baas A, Stolz S, Hoffmann B, Chrobot E, Grabbe S, Jansen T, Neumann HP, Schluh G, Gal A, Muschol N, Shäfer E, Ullrich K, Das A, Illsinger S, Lücke T, Bähner F, Baron K, Beck M, Bruns K, Delgado Sanchez S, Hartung R, Kalkum G, Kampmann C, Keilmann A, Lackner K, Pitz S, Whybra C, Wiethoff C, Koletzko B, Pontz B, Böttcher T, Miethe S, Rolfs A, Davydenko I, Wanner C, Maródi L, Gabrielli O, Gobbi S, Concolino D, Zampetti A, Borsini W, Buchner S, Menni F, Parini R, Ravaglia R, Santus F, Di Vito R, Burlina A, Burlina AP, Manara R, Antuzzi D, Castorina M, Ricci R, Kaarbøe Ø, Skarbøvik A, Houge G, Svarstad E, Tøndel C, Barba MA, Botella R, Franco A, Torras J, Gómez Huertas E, Torregrosa V, Fernández V, Paniagua J, Rodriguez F, Herrera J, Febrer I, Perez Garcia A, Martin I, Barbado FJ, Garcia de Lorenzo A, López M, González J, Ballarin J, Torra R, Hernández S, Ara J, Bonal J, Pintos G, Andreu J, Rivera A, Oqvist B, Huyen Do U, Barbey F, Hayoz D, Theytaz J, Schärer M, Schulthess G, Steinmann B, Walter K, Widmer U, Hollak C, Ormel E, van Duinen A, Vetter A, Corcoran M, Cox TM, Deegan P, Ramaswami U, Wright N, Baker R, Blincoe M, Bruce R, Burns A, Close L, Davey C, Elliott J, Elliott P, Evans S, Ginsberg L, Hajioff D, Hughes D, Ioannidis A, Keshav S, Mehta A, Milligan A, Orteu C, Richfield L., STRISCIUGLIO, PIETRO, Cybulla, M, Walter, Kn, Schwarting, A, Divito, R, Feriozzi, S, Sunder Plassmann, G, Binder, C, Kotanko, P, Kroepfl, T, Plecko, B, Bodamer, O, Hauser, Ac, Kleinert, J, Kristoferitsch, W, Schreiber, W, Georges, B, Nassogne, Mc, Pirson, Y, Dehout, F, Henry, F, Roland, D, Vauthier, L, Goyens, P, Mazoin, N, Van Maldergem, L, Eyskens, F, Bultas, J, Karetová, D, Linhart, A, Dostalova, G, Choukroun, G, Berthelot, J, Hardy, P, Carey Reomonnay, S, Lacombe, D, Bataille, P, Benziane, S, Mittelberger, Jm, Thevenot, C, Dobbelaere, D, Hachulla, E, Dussol, B, Reade, R, Khau van Kien, A, Kaminsky, P, Guyot, C, Lino, M, Ghafari, T, Germain, Dp, Knebelmann, B, Lidove, O, Ouali, N, Touati, G, Monlun, E, Jaussaud, R, Richalet, B, Klotz, V, Andres, E, Caraman, D, Bazex, J, Perrichot, R, Hennermann, J, von Arnim Baas, A, Stolz, S, Hoffmann, B, Chrobot, E, Grabbe, S, Jansen, T, Neumann, Hp, Schluh, G, Gal, A, Muschol, N, Shäfer, E, Ullrich, K, Das, A, Illsinger, S, Lücke, T, Bähner, F, Baron, K, Beck, M, Bruns, K, Delgado Sanchez, S, Hartung, R, Kalkum, G, Kampmann, C, Keilmann, A, Lackner, K, Pitz, S, Whybra, C, Wiethoff, C, Koletzko, B, Pontz, B, Böttcher, T, Miethe, S, Rolfs, A, Davydenko, I, Wanner, C, Maródi, L, Gabrielli, O, Gobbi, S, Concolino, D, Strisciuglio, Pietro, Zampetti, A, Borsini, W, Buchner, S, Menni, F, Parini, R, Ravaglia, R, Santus, F, Di Vito, R, Burlina, A, Burlina, Ap, Manara, R, Antuzzi, D, Castorina, M, Ricci, R, Kaarbøe, Ø, Skarbøvik, A, Houge, G, Svarstad, E, Tøndel, C, Barba, Ma, Botella, R, Franco, A, Torras, J, Gómez Huertas, E, Torregrosa, V, Fernández, V, Paniagua, J, Rodriguez, F, Herrera, J, Febrer, I, Perez Garcia, A, Martin, I, Barbado, Fj, Garcia de Lorenzo, A, López, M, González, J, Ballarin, J, Torra, R, Hernández, S, Ara, J, Bonal, J, Pintos, G, Andreu, J, Rivera, A, Oqvist, B, Huyen Do, U, Barbey, F, Hayoz, D, Theytaz, J, Schärer, M, Schulthess, G, Steinmann, B, Walter, K, Widmer, U, Hollak, C, Ormel, E, van Duinen, A, Vetter, A, Corcoran, M, Cox, Tm, Deegan, P, Ramaswami, U, Wright, N, Baker, R, Blincoe, M, Bruce, R, Burns, A, Close, L, Davey, C, Elliott, J, Elliott, P, Evans, S, Ginsberg, L, Hajioff, D, Hughes, D, Ioannidis, A, Keshav, S, Mehta, A, Milligan, A, Orteu, C, and Richfield, L.

Published
2009

30. Current anti-myeloma therapies in renal manifestations of monoclonal light chain-associated Fanconi syndrome: a retrospective series of 49 patients

Author

Vignon, M, primary, Javaugue, V, additional, Alexander, M P, additional, El-Karoui, K, additional, Karras, A, additional, Roos-Weil, D, additional, Royer, B, additional, Asli, B, additional, Knebelmann, B, additional, Touchard, G, additional, Jaccard, A, additional, Arnulf, B, additional, Bridoux, F, additional, Leung, N, additional, and Fermand, J P, additional

Published
2016
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38. Beta4 integrin and laminin 5 are aberrantly expressed in polycystic kidney disease: role in increased cell adhesion and migration

Author

Joly, D., Morel, V., Hummel, A., Ruello, A., Nusbaum, P., Patey, N., Noel, Lh, Rousselle, P., Knebelmann, B., and Deleage, Gilbert

Subjects
[SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology
Abstract

Extracellular matrix alterations have been suggested to be part of the early events occurring in Autosomal Dominant Polycystic Kidney Disease (ADPKD), a disease characterized by formation of renal cysts and progressive renal failure. Here we report that cDNA array analysis identified beta(4) integrin aberrant expression in ADPKD cells. Furthermore, laminin 5 (Ln-5), the main alpha(6)beta(4) integrin ligand, was also found to be abnormally expressed in ADPKD. Studies performed with ADPKD cyst-lining epithelial cells (CC) by comparison with normal tubular cells indicate that integrin alpha(6)beta(4)-Ln-5 interactions are involved in cellular events of potential importance for cystogenesis: 1) laminin 5 is a preferential adhesion substrate for CC, mainly through alpha(6)beta(4) interaction, 2) CC increased haptotactic and chemotactic motility depends on the presence of Ln-5 and requires integrin alpha(3)beta(1) cooperation, and 3) CC haptotactic or chemotactic migration is specifically increased by mAb-mediated beta(4) integrin ligation, through an alpha(3)beta(1) integrin-dependent and independent pathway, respectively. These results highlight the role of Ln-5 and alpha(6)beta(4) integrin in adhesive and motility properties of cyst-lining epithelial cells, and further suggest that integrins and extracellular matrix modifications may be of general relevance to kidney epithelial cell cyst formation.Extracellular matrix alterations have been suggested to be part of the early events occurring in Autosomal Dominant Polycystic Kidney Disease (ADPKD), a disease characterized by formation of renal cysts and progressive renal failure. Here we report that cDNA array analysis identified beta(4) integrin aberrant expression in ADPKD cells. Furthermore, laminin 5 (Ln-5), the main alpha(6)beta(4) integrin ligand, was also found to be abnormally expressed in ADPKD. Studies performed with ADPKD cyst-lining epithelial cells (CC) by comparison with normal tubular cells indicate that integrin alpha(6)beta(4)-Ln-5 interactions are involved in cellular events of potential importance for cystogenesis: 1) laminin 5 is a preferential adhesion substrate for CC, mainly through alpha(6)beta(4) interaction, 2) CC increased haptotactic and chemotactic motility depends on the presence of Ln-5 and requires integrin alpha(3)beta(1) cooperation, and 3) CC haptotactic or chemotactic migration is specifically increased by mAb-mediated beta(4) integrin ligation, through an alpha(3)beta(1) integrin-dependent and independent pathway, respectively. These results highlight the role of Ln-5 and alpha(6)beta(4) integrin in adhesive and motility properties of cyst-lining epithelial cells, and further suggest that integrins and extracellular matrix modifications may be of general relevance to kidney epithelial cell cyst formation.

Published
2003

39. X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A 'European Community Alport Syndrome Concerted Action' Study

Author

Jais, Jp, Knebelmann, B, Giatras, I, DE MARCHI, Mario, Rizzoni, Gf, Renieri, A, Weber, M, Gross, O, Netzer, Ko, Flinter, F, Pirson, Y, Dahan, K, Wieslander, J, Persson, U, Tryggvason, K, Martin, P, Hertz, Pm, Schrder, C, Sanak, M, Carvalho, Mf, Saus, J, Antignac, C, and AND GUBLER MC, SMEETS H.

Subjects
Alport Syndrome, glomerular basement membrane, genotype-phenotype correlations, mutation diagnosis, type IV collagen, end stage renal disease
Published
2003

45. Genetic studies in renal diseases

Author

Tosetto, E., primary, Casarin, A., additional, Cristofaro, R., additional, Salviati, L., additional, Anglani, F., additional, Prot Bertoye, C., additional, Lebbah, S., additional, Daudon, M., additional, Couffignal, C., additional, Elie, C., additional, Tostivint, I., additional, Traxer, O., additional, Knebelmann, B., additional, Courbebaisse, M., additional, Bavbek Ruzgaresen, N., additional, Ceri, M., additional, Kargili, A., additional, Akdeniz, D., additional, Akcay, A., additional, Duranay, M., additional, Guz, G., additional, Testa, A., additional, Spoto, B., additional, Sanguedolce, M. C., additional, Panuccio, V., additional, Leonardis, D., additional, Tripepi, R., additional, Mafrica, A., additional, Tripepi, G., additional, Zoccali, C., additional, Mallamaci, F., additional, Pesce, F., additional, Cox, S. N., additional, Serino, G., additional, Sallustio, F., additional, Froguel, P., additional, Schena, F. P., additional, Falchi, M., additional, Boger, C., additional, and Ckd Progression Writing Group, O. B. o. t. C., additional

Published
2012
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46. Impact of sarcopenia (Sp) on early dose-limiting toxicity (DLT) and acute vascular toxicity in patients (pts) with metastatic renal cell carcinoma (mRCC) receiving sunitinib (SUT).

Author

Huillard, O., primary, Mir, O., additional, Barry Delongchamps, N., additional, Blanchet, B., additional, Knebelmann, B., additional, Boudou-Rouquette, P., additional, Coriat, R., additional, Debre, B., additional, Durand, J., additional, Flam, T., additional, Peyromaure, M., additional, Zerbib, M., additional, Ropert, S., additional, and Goldwasser, F., additional

Published
2011
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50. Post-allogeneic haematopoietic stem cell transplantation membranous nephropathy: clinical presentation, outcome and pathogenic aspects

Author

Terrier, B., primary, Delmas, Y., additional, Hummel, A., additional, Presne, C., additional, Glowacki, F., additional, Knebelmann, B., additional, Combe, C., additional, Lesavre, P., additional, Maillard, N., additional, Noel, L.-H., additional, Patey-Mariaud de Serre, N., additional, Nusbaum, S., additional, Radford, I., additional, Buzyn, A., additional, and Fakhouri, F., additional

Published
2007
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