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1. Wave vector dependence of the dynamics in supercooled metallic liquids

Author

Ruta, B., Hechler, S., Neuber, N., Orsi, D., Cristofolini, L., Gross, O., Bochtler, B., Frey, M., Kuball, A., Riegler, S. S., Stolpe, M., Evenson, Z., Gutt, C., Westermeier, F., Busch, R., and Gallino, I.

Subjects
Condensed Matter - Soft Condensed Matter, Condensed Matter - Disordered Systems and Neural Networks
Abstract

We present a detailed investigation of the wave vector dependence of collective atomic motion in Au49Cu26.9Si16.3Ag5.5Pd2.3 and Pd42.5Cu27Ni9.5P21 supercooled liquids close to the glass transition temperature. Using x-ray photon correlation spectroscopy in a precedent uncovered spatial range of only few interatomic distances, we show that the microscopic structural relaxation process follows in phase the structure with a marked slowing down at the main average inter-particle distance. This behavior is accompanied by dramatic changes in the shape of the intermediate scattering functions which suggest the presence of large dynamical heterogeneities at length-scales corresponding to few particle diameters. A ballistic-like mechanism of particle motion seems to govern the structural relaxation of the two systems in the highly viscous phase, likely associated to hopping of caged particles in agreement with theoretical studies.

Published
2020
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2. Liquid-liquid transition revealed by quasi-static cooling of an ultra-viscous metallic liquid

Author

Hechler, S., Ruta, B., Stolpe, M., Pineda, E., Evenson, Z., Gross, O., Hembree, W., Bernasconi, A., Busch, R., and Gallino, I.

Subjects
Condensed Matter - Disordered Systems and Neural Networks
Abstract

Temperature-driven polyamorphism has been reported in various supercooled liquids and glasses. The dynamical and structural routes followed by the system during such crossovers are however not universal and appear to be related to intrinsic kinetic properties of the liquid. By combining x-ray photon correlation spectroscopy and high energy x-ray diffraction, we have followed the collective atomic motion and structural changes during quasi-static cooling of the Au49Cu26.9Si16.3Ag5.5Pd2.3 metallic glass-former. Due to this ultra-slow thermal protocol, the glass transition temperature is lowered far enough to reveal a liquid-liquid crossover in the ultra-viscous supercooled phase. This transition is usually hidden by vitrification and leads to a strong liquid characterized by increasing correlation at the medium range.

Published
2017
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4. A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome.

Author

Gale, DP, Gross, O, Wang, F, Esteban de la Rosa, RJ, Hall, M, Sayer, JA, Appel, G, Hariri, A, Liu, S, Maski, M, Shen, Y, Zhang, Q, Iqbal, S, Kowthalam, MU, Lin, J, Ding, J, HERA Clinical Trial Group, Gale, DP, Gross, O, Wang, F, Esteban de la Rosa, RJ, Hall, M, Sayer, JA, Appel, G, Hariri, A, Liu, S, Maski, M, Shen, Y, Zhang, Q, Iqbal, S, Kowthalam, MU, Lin, J, Ding, J, and HERA Clinical Trial Group

Abstract

Key Points: • Lademirsen, an anti–microRNA-21 therapy, was generally well-tolerated in adults with Alport syndrome at risk of rapid disease progression. • There were no significant differences between lademirsen-treated and placebo-treated participants in eGFR at any timepoint. • The proportions of participants with prespecified reductions in eGFR at weeks 24 and 48 were not significantly different for lademirsen versus placebo. Background: Preclinical models of disease have suggested that targeting microRNA-21 (miRNA-21) may slow the decline in kidney function in individuals with Alport syndrome (AS). The objective of this study was to investigate the effects of the anti–miRNA-21 oligonucleotide, lademirsen, on rate of eGFR decline in adults with AS at risk of rapid disease progression. Methods: This study was a phase 2 trial of lademirsen, with a randomized, double-blind, placebo-controlled period followed by an open-label period. Adults with AS, eGFR >35 to <90 ml/min per 1.73 m2, and evidence of rapidly progressive kidney dysfunction were randomized 2:1 to lademirsen 110 mg subcutaneously once weekly or placebo for 48 weeks. After a planned interim analysis (after 24 of 43 randomized participants completed the week 48 study visit or discontinued before week 48), the trial was terminated for futility. Results: Forty-three adults with AS (26 men, 17 women) participated (mean age 34 years), and 28 (lademirsen: n=19; placebo: n=9) completed 48 weeks of double-blind treatment. All participants in both groups developed treatment-emergent adverse events, mainly respiratory tract infections, headache, dizziness, metabolic/electrolyte disturbances, and anemia. Treatment was discontinued in three lademirsen-treated participants in the double-blind period and one participant in the open-label period, owing to treatment-emergent adverse events. The least squares mean eGFR slope (95% confidence interval) over 48 weeks in the lademirsen and placebo groups was −5 (−8.7 to −1.1

Published
2024

6. Lifelong effect of therapy in young patients with the cOL4A5 alport missense variant p.(Gly624Asp): a prospective cohort study

Author

Boeckhaus, J., Hoefele, J., Riedhammer, K.M., Nagel, M., Beck, B., Choi, M., Gollasch, M., Bergmann, C., Sonntag, J.E., Troesch, V., Stock, J., and Gross, O.

Subjects
Cardiovascular and Metabolic Diseases
Abstract

BACKGROUND: Angiotensin-converting enzyme inhibitors (ACEis) have evolved as a first-line therapy for delaying end-stage renal failure (ESRF) in Alport syndrome. The present study tested the hypothesis of a superior nephroprotective potential of an early ACEi intervention, examining a cohort with the COL4A5 missense variant p.(Gly624Asp). METHODS: In this observational cohort study (NCT02378805), 114 individuals with the identical gene-variant were explored for "age at ESRF" and "life-expectancy" in correlation with treatment as endpoints. RESULTS: All 13 untreated hemizygous patients developed ESRF (mean age 48.9+/-13.7 years) as did three very late treated hemizygotes (51.7+/-4.2 years), with a mean life-expectancy of 59.2+/-9.6 years. All 28 earlier (eGFR 60 ml/min or higher) treated hemizygous patients were still alive and still had not reached ESRF. Therapy minimized the annual loss of their glomerular filtration rate, similar to the annual loss in healthy individuals. Out of 65 heterozygotes, 4 untreated individuals developed ESRF at an age of 53.3+/-20.7 years. None of the treated heterozygous females developed ESRF. CONCLUSIONS: For the first time, this study shows that in Alport syndrome, early therapy in individuals with missense variants might have the potential to delay renal failure for their lifetime and thus to improve life-expectancy and quality of life without the need for renal replacement therapy. Some treated patients have reached retirement age with still-functioning kidneys whereas untreated relatives have already reached ESRF at the same or younger age. Thus, in children with glomerular hematuria, early testing for Alport-related gene variants could lead to timely nephroprotective intervention.

Published
2022

7. Study on Technical Parameters and Suitability of Platinum-Based Metallic Glasses for Jewellery Applications.

Author

Schmitt, L.-Y., Neuber, N., Eisenbart, M., Ciftci, L., Gross, O., Klotz, U. E., and Busch, R.

Subjects
JEWELRY making, METALLIC glasses, CORROSION resistance, PLATINUM alloys, ABRASION resistance, MICROCRACKS
Abstract

Jewellery-specific standardised tests as well as bulk metallic glass (BMG)-specific testing methods were performed on a series of platinumbased BMGs with and without phosphorus, to evaluate their suitability as jewellery items. Their mechanical properties (elasticity, Young's modulus and yield stress) were determined by three-point beam bending measurements. Hardness, wear and corrosion resistance were tested in comparison to state-of-the-art crystalline platinum-based jewellery alloys. The platinum-BMG alloys exhibit elastic elongation of about 2%. Compared to conventional crystalline platinum-alloys, their fracture strength of ca. 2 GPa and their hardness of ca. 450 HV1 is four and two times higher, respectively. However, the BMGs show less abrasion resistance in the pinon- disc test than the conventional benchmark alloys due to adhesive wear and microcracking. Regarding the corrosion resistance in simulated body fluids, the BMG alloys reveal a slightly higher release of metals, while the tarnishing behaviour is comparable to the benchmark alloys. The phosphorus-free platinum-BMG alloy showed pronounced tarnishing during exposure to air at elevated temperature. The outstanding thermoplastic formability, a special feature of amorphous metals that can be crucial for enabling novel and filigree designs, was determined and quantified for all BMG alloys. [ABSTRACT FROM AUTHOR]

Published
2023
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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. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

Koettgen, A, Cornec-Le Gall, E, Halbritter, J, Kiryluk, K, Mallett, AJ, Parekh, RS, Rasouly, HM, Sampson, MG, Tin, A, Antignac, C, Ars, E, Bergmann, C, Bleyer, AJ, Bockenhauer, D, Devuyst, O, Florez, JC, Fowler, KJ, Franceschini, N, Fukagawa, M, Gale, DP, Gbadegesin, RA, Goldstein, DB, Grams, ME, Greka, A, Gross, O, Guay-Woodford, LM, Harris, PC, Hoefele, J, Hung, AM, Knoers, NVAM, Kopp, JB, Kretzler, M, Lanktree, MB, Lipska-Zietkiewicz, BS, Nicholls, K, Nozu, K, Ojo, A, Parsa, A, Pattaro, C, Pei, Y, Pollak, MR, Rhee, EP, Sanna-Cherchi, S, Savige, J, Sayer, JA, Scolari, F, Sedor, JR, Sim, X, Somlo, S, Susztak, K, Tayo, BO, Torra, R, van Eerde, AM, Weinstock, A, Winkler, CA, Wuttke, M, Zhang, H, King, JM, Cheung, M, Jadoul, M, Winkelmayer, WC, Gharavi, AG, Koettgen, A, Cornec-Le Gall, E, Halbritter, J, Kiryluk, K, Mallett, AJ, Parekh, RS, Rasouly, HM, Sampson, MG, Tin, A, Antignac, C, Ars, E, Bergmann, C, Bleyer, AJ, Bockenhauer, D, Devuyst, O, Florez, JC, Fowler, KJ, Franceschini, N, Fukagawa, M, Gale, DP, Gbadegesin, RA, Goldstein, DB, Grams, ME, Greka, A, Gross, O, Guay-Woodford, LM, Harris, PC, Hoefele, J, Hung, AM, Knoers, NVAM, Kopp, JB, Kretzler, M, Lanktree, MB, Lipska-Zietkiewicz, BS, Nicholls, K, Nozu, K, Ojo, A, Parsa, A, Pattaro, C, Pei, Y, Pollak, MR, Rhee, EP, Sanna-Cherchi, S, Savige, J, Sayer, JA, Scolari, F, Sedor, JR, Sim, X, Somlo, S, Susztak, K, Tayo, BO, Torra, R, van Eerde, AM, Weinstock, A, Winkler, CA, Wuttke, M, Zhang, H, King, JM, Cheung, M, Jadoul, M, Winkelmayer, WC, and Gharavi, AG

Abstract

Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling. All of these steps rely on accurate interpretation of genetic data, which can be outpaced by current rates of data collection. In March of 2021, Kidney Diseases: Improving Global Outcomes (KDIGO) held a Controversies Conference on "Genetics in Chronic Kidney Disease (CKD)" to review the current state of understanding of monogenic and complex (polygenic) kidney diseases, processes for applying genetic findings in clinical medicine, and use of genomics for defining and stratifying CKD. Given the important contribution of genetic variants to CKD, practitioners with CKD patients are advised to "think genetic," which specifically involves obtaining a family history, collecting detailed information on age of CKD onset, performing clinical examination for extrarenal symptoms, and considering genetic testing. To improve the use of genetics in nephrology, meeting participants advised developing an advanced training or subspecialty track for nephrologists, crafting guidelines for testing and treatment, and educating patients, students, and practitioners. Key areas of future research, including clinical interpretation of genome variation, electronic phenotyping, global representation, kidney-specific molecular data, polygenic scores, translational epidemiology, and open data resources, were also identified.

Published
2022

12. Development of a NanoBRET assay to validate inhibitors of Sirt2-mediated lysine deacetylation and defatty-acylation that block prostate cancer cell migration

Author

Vogelmann, A., primary, Schiedel, M., additional, Wössner, N., additional, Merz, A., additional, Herp, D., additional, Hammelmann, S., additional, Colcerasa, A., additional, Komaniecki, G., additional, Hong, JY., additional, Sum, M., additional, Metzger, E., additional, Neuwirt, E., additional, Zhang, L., additional, Einsle, O., additional, Groß, O., additional, Schüle, R., additional, Lin, H., additional, Sippl, W., additional, and Jung, M., additional

Published
2022
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13. Management of Lupus Nephritis

Author

Merkel F, Gross O, and Weber M

Subjects
Systemic lupus erythematosus, Autoimmunity, Immunosuppressive therapy, Lupus nephritis, Glomerulonephritis., Medicine
Abstract

Summary : Renal disease is common in systemic lupus erythematosus (SLE) and significantly influences patient prognosis. Immunosuppressive therapy has markedly improved outcome, however, it increases the risk of infection and cancer induction. Although several therapeutic regimens have proved to be effective in controlling lupus nephritis (LN), optimal therapy is still a matter of discussion. The following review summarizes our current knowledge in treating LN and discusses new aspects in pathogenesis. Hopefully, continuing progress in uncovering details about the pathogenesis of SLE might lead to more disease-specific approaches to treat the underlying immunological disorder.

Published
2000

18. Collagen IValpha345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases.

Author

Pokidysheva E.N., Seeger H., Pedchenko V., Chetyrkin S., Bergmann C., Abrahamson D., Cui Z.W., Delpire E., Fervenza F.C., Fidler A.L., Gaspert A., Grohmann M., Gross O., Haddad G., Harris R.C., Kashtan C., Fogo A.B., Kitching A.R., Lorenzen J.M., McAdoo S., Pusey C.D., Segelmark M., Simmons A., Voziyan P.A., Wagner T., Wuthrich R.P., Zhao M.-H., Boudko S.P., Kistler A.D., Hudson B.G., Pokidysheva E.N., Seeger H., Pedchenko V., Chetyrkin S., Bergmann C., Abrahamson D., Cui Z.W., Delpire E., Fervenza F.C., Fidler A.L., Gaspert A., Grohmann M., Gross O., Haddad G., Harris R.C., Kashtan C., Fogo A.B., Kitching A.R., Lorenzen J.M., McAdoo S., Pusey C.D., Segelmark M., Simmons A., Voziyan P.A., Wagner T., Wuthrich R.P., Zhao M.-H., Boudko S.P., Kistler A.D., and Hudson B.G.

Abstract

Diseases of the glomerular basement membrane (GBM), such as Goodpasture's disease (GP) and Alport syndrome (AS), are a major cause of chronic kidney failure and an unmet medical need. Collagen IValpha345 is an important architectural element of the GBM that was discovered in previous research on GP and AS. How this collagen enables GBM to function as a permselective filter and how structural defects cause renal failure remain an enigma. We found a distinctive genetic variant of collagen IValpha345 in both a familial GP case and four AS kindreds that provided insights into these mechanisms. The variant is an 8-residue appendage at the C-terminus of the alpha3 subunit of the alpha345 hexamer. A knock-in mouse harboring the variant displayed GBM abnormalities and proteinuria. This pathology phenocopied AS, which pinpointed the alpha345 hexamer as a focal point in GBM function and dysfunction. Crystallography and assembly studies revealed underlying hexamer mechanisms, as described in Boudko et al. and Pedchenko et al. Bioactive sites on the hexamer surface were identified where pathogenic pathways of GP and AS converge and, potentially, that of diabetic nephropathy (DN). We conclude that the hexamer functions include signaling and organizing macromolecular complexes, which enable GBM assembly and function. Therapeutic modulation or replacement of alpha345 hexamer could therefore be a potential treatment for GBM diseases, and this knock-in mouse model is suitable for developing gene therapies.Copyright © 2021 THE AUTHORS. Published by Elsevier Inc on behalf of American Society for Biochemistry and Molecular Biology. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Published
2021

19. Collagen IValpha345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases.

Author

Kistler A.D., Wuthrich R.P., Zhao M.-H., Boudko S.P., Hudson B.G., Kitching A.R., Pokidysheva E.N., Seeger H., Pedchenko V., Chetyrkin S., Bergmann C., Abrahamson D., Cui Z.W., Delpire E., Fervenza F., Fidler A.L., Fogo A.B., Gaspert A., Grohmann M., Gross O., Haddad G., Harris R.C., Kashtan C., Lorenzen J.M., McAdoo S., Pusey C.D., Segelmark M., Simmons A., Voziyan P.A., Wagner T., Kistler A.D., Wuthrich R.P., Zhao M.-H., Boudko S.P., Hudson B.G., Kitching A.R., Pokidysheva E.N., Seeger H., Pedchenko V., Chetyrkin S., Bergmann C., Abrahamson D., Cui Z.W., Delpire E., Fervenza F., Fidler A.L., Fogo A.B., Gaspert A., Grohmann M., Gross O., Haddad G., Harris R.C., Kashtan C., Lorenzen J.M., McAdoo S., Pusey C.D., Segelmark M., Simmons A., Voziyan P.A., and Wagner T.

Abstract

Diseases of the glomerular basement membrane (GBM), such as Goodpasture's disease (GP) and Alport syndrome (AS), are a major cause of chronic kidney failure and an unmet medical need. Collagen IValpha345 is an important architectural element of the GBM that was discovered in previous research on GP and AS. How this collagen enables GBM to function as a permselective filter and how structural defects cause renal failure remain an enigma. We found a distinctive genetic variant of collagen IValpha345 in both a familial GP case and four AS kindreds that provided insights into these mechanisms. The variant is an 8-residue appendage at the C-terminus of the alpha3 subunit of the alpha345 hexamer. A knock-in mouse harboring the variant displayed GBM abnormalities and proteinuria. This pathology phenocopied AS, which pinpointed the alpha345 hexamer as a focal point in GBM function and dysfunction. Crystallography and assembly studies revealed underlying hexamer mechanisms, as described in Companion Papers II and III. Bioactive sites on the hexamer surface were identified where pathogenic pathways of GP and AS converge, and, potentially, that of diabetic nephropathy (DN). We conclude that the hexamer functions include signaling and organizing macromolecular complexes, which enable GBM assembly and function. Therapeutic modulation or replacement of alpha345 hexamer could therefore be a potential treatment for GBM diseases, and this knock-in mouse model is suitable for developing gene therapies.Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.

Published
2021

20. The importance of clinician, patient and researcher collaborations in Alport syndrome

Author

Rheault, MN, Savige, J, Randles, MJ, Weinstock, A, Stepney, M, Turner, AN, Parziale, G, Gross, O, Flinter, FA, Miner, JH, Lagas, S, Gear, S, Lennon, R, Rheault, MN, Savige, J, Randles, MJ, Weinstock, A, Stepney, M, Turner, AN, Parziale, G, Gross, O, Flinter, FA, Miner, JH, Lagas, S, Gear, S, and Lennon, R

Abstract

Alport syndrome is caused by mutations in the genes COL4A3, COL4A4 or COL4A5 and is characterised by progressive glomerular disease, sensorineural hearing loss and ocular defects. Occurring in less than 1:5000, Alport syndrome is a rare genetic disorder but still accounts for > 1% of the prevalent population receiving renal replacement therapy. There is also increasing awareness about the risk of chronic kidney disease in individuals with heterozygous mutations in Alport syndrome genes. The mainstay of current therapy is the use of angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, yet potential new therapies are now entering clinical trials. The 2017 International Workshop on Alport Syndrome in Glasgow was a pre-conference workshop ahead of the 50th anniversary meeting of the European Society for Pediatric Nephrology. It focussed on updates in clinical practice, genetics and basic science and also incorporated patient perspectives. More than 80 international experts including clinicians, geneticists, researchers from academia and industry, and patient representatives took part in panel discussions and breakout groups. This report summarises the workshop proceedings and the relevant contemporary literature. It highlights the unique clinician, patient and researcher collaborations achieved by regular engagement between the groups.

Published
2020

22. Expert consensus guidelines for the genetic diagnosis of Alport syndrome

Author

Savige, J, Ariani, F, Mari, F, Bruttini, M, Renieri, A, Gross, O, Deltas, C, Flinter, F, Ding, J, Gale, DP, Nagel, M, Yau, M, Shagam, L, Torra, R, Ars, E, Hoefele, J, Garosi, G, and Storey, H

Subjects
Next generation sequencing, Collagen IV genes, Pathogenic variants, urologic and male genital diseases, Alport syndrome
Abstract

Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments. In individuals with suspected Alport syndrome, all three COL4A5, COL4A3 and COL4A4 genes should be examined for pathogenic variants, probably by high throughput-targeted next generation sequencing (NGS) technologies, with a customised panel for simultaneous testing of the three Alport genes. These techniques identify up to 95% of pathogenic COL4A variants. Where causative pathogenic variants cannot be demonstrated, the DNA should be examined for deletions or insertions by re-examining the NGS sequencing data or with multiplex ligation-dependent probe amplification (MLPA). These techniques identify a further 5% of variants, and the remaining few changes include deep intronic splicing variants or cases of somatic mosaicism. Where no pathogenic variants are found, the basis for the clinical diagnosis should be reviewed. Genes in which mutations produce similar clinical features to Alport syndrome (resulting in focal and segmental glomerulosclerosis, complement pathway disorders, MYH9-related disorders, etc.) should be examined. NGS approaches have identified novel combinations of pathogenic variants in Alport syndrome. Two variants, with one in COL4A3 and another in COL4A4, produce a more severe phenotype than an uncomplicated heterozygous change. NGS may also identify further coincidental pathogenic variants in genes for podocyte-expressed proteins that also modify the phenotype. Our understanding of the genetics of Alport syndrome is evolving rapidly, and both genetic and non-genetic factors are likely to contribute to the observed phenotypic variability.

Published
2019

24. The fungal peptide toxin Candidalysin activates the NLRP3 inflammasome and causes cytolysis in mononuclear phagocytes

Author

Kasper, L., Konig, A., Koenig, P.A., Gresnigt, M.S., Westman, J., Drummond, R.A., Lionakis, M.S., Gross, O., Ruland, J., Naglik, J.R., Hube, B., Kasper, L., Konig, A., Koenig, P.A., Gresnigt, M.S., Westman, J., Drummond, R.A., Lionakis, M.S., Gross, O., Ruland, J., Naglik, J.R., and Hube, B.

Abstract

Contains fulltext : 200455.pdf (publisher's version ) (Open Access), Clearance of invading microbes requires phagocytes of the innate immune system. However, successful pathogens have evolved sophisticated strategies to evade immune killing. The opportunistic human fungal pathogen Candida albicans is efficiently phagocytosed by macrophages, but causes inflammasome activation, host cytolysis, and escapes after hypha formation. Previous studies suggest that macrophage lysis by C. albicans results from early inflammasome-dependent cell death (pyroptosis), late damage due to glucose depletion and membrane piercing by growing hyphae. Here we show that Candidalysin, a cytolytic peptide toxin encoded by the hypha-associated gene ECE1, is both a central trigger for NLRP3 inflammasome-dependent caspase-1 activation via potassium efflux and a key driver of inflammasome-independent cytolysis of macrophages and dendritic cells upon infection with C. albicans. This suggests that Candidalysin-induced cell damage is a third mechanism of C. albicans-mediated mononuclear phagocyte cell death in addition to damage caused by pyroptosis and the growth of glucose-consuming hyphae.

Published
2018

26. Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: Report from the 2015 International Workshop on Alport Syndrome

Author

Gross, O., Kashtan, C. E., Rheault, M. N., Flinter, F., Savige, J., Miner, J. H., Torra, R., Ars, E., Constantinou-Deltas, Constantinos D., Savva, Isavella, Perin, L., Renieri, A., Ariani, F., Mari, F., Baigent, C., Judge, P., Knebelman, B., Heidet, L., Lagas, S., Blatt, D., Ding, J., Zhang, Y., Gale, D. P., Prunotto, M., Xue, Y., Schachter, A. D., Morton, L. C. G., Blem, J., Huang, M., Liu, S., Vallee, S., Renault, D., Schifter, J., Skelding, J., Gear, S., Friede, T., Turner, A. N., Lennon, R., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

Subjects
Chronic kidney disease, Hereditary kidney disease, Guidelines, Nephroprotection, Alport syndrome
Abstract

Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the a3a4a5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure therefore, there is an urgent requirement to expand and intensify research towards discovering new therapeutic targets and new therapies. The 2015 International Workshop on Alport Syndrome targeted unmet needs in basic science, genetics and diagnosis, clinical research and current clinical care. In three intensive days, more than 100 international experts including physicians, geneticists, researchers from academia and industry, and patient representatives from all over the world participated in panel discussions and breakout groups. This report summarizes the most important priority areas including (i) understanding the crucial role of podocyte protection and regeneration, (ii) targeting mutations by new molecular techniques for new animal models and potential gene therapy, (iii) creating optimal interaction between nephrologists and geneticists for early diagnosis, (iv) establishing standards for mutation screening and databases, (v) improving widespread accessibility to current standards of clinical care, (vi) improving collaboration with the pharmaceutical/biotech industry to investigate new therapies, (vii) research in hearing loss as a huge unmet need in Alport patients and (viii) the need to evaluate the risk and benefit of novel (including 'repurposing') therapies on an international basis. © The Author 2016. 32 916 924 Cited By :1

Published
2017

28. Advances and unmet needs in genetic, basic and clinical science in Alport syndrome::report from the 2015 International Workshop on Alport Syndrome

Author

Gross, O, Kashtan, CE, Rheault, MN, Flinter, F, Savige, J, Miner, JH, Torra, R, Ars, E, Deltas, C, Savva, I, Perin, L, Renieri, A, Ariani, F, Mari, F, Baigent, C, Judge, P, Knebelman, B, Heidet, L, Lagas, S, Blatt, D, Ding, J, Zhang, Y, Gale, DP, Prunotto, M, Xue, Y, Schachter, AD, Morton, LC, Blem, J, Huang, M, Liu, S, Vallee, S, Renault, D, Schifter, J, Skelding, J, Gear, S, Friede, T, Turner, AN, and Lennon, R

Subjects
Collagen Type IV, nephroprotection, Podocytes, Reviews, Nephritis, Hereditary, Genetic Therapy, Quality Improvement, hereditary kidney disease, Mutation, Animals, Humans, Alport syndrome, chronic kidney disease, guidelines, Needs Assessment
Abstract

Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the alpha 3 alpha 4 alpha 5(IV) collagen heterotrimer. AS is rare, but it accounts for > 1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure; therefore, there is an urgent requirement to expand and intensify research towards discovering new therapeutic targets and new therapies. The 2015 International Workshop on Alport Syndrome targeted unmet needs in basic science, genetics and diagnosis, clinical research and current clinical care. In three intensive days, more than 100 international experts including physicians, geneticists, researchers from academia and industry, and patient representatives from all over the world participated in panel discussions and breakout groups. This report summarizes the most important priority areas including (i) understanding the crucial role of podocyte protection and regeneration, (ii) targeting mutations by new molecular techniques for new animal models and potential gene therapy, (iii) creating optimal interaction between nephrologists and geneticists for early diagnosis, (iv) establishing standards for mutation screening and databases, (v) improving widespread accessibility to current standards of clinical care, (vi) improving collaboration with the pharmaceutical/biotech industry to investigate new therapies, (vii) research in hearing loss as a huge unmet need in Alport patients and (viii) the need to evaluate the risk and benefit of novel (including 'repurposing') therapies on an international basis.

Published
2016

30. The DESCARTES-Nantes survey of kidney transplant recipients displaying clinical operational tolerance identifies 35 new tolerant patients and 34 almost tolerant patients

Author

Massart, A., Pallier, A., Pascual, J., Viklicky, O., Budde, K., Spasovski, G., Klinger, M., Sever, M.S., Sorensen, S.S., Hadaya, K., Oberbauer, R., Dudley, C., Fijter, J.W. de, Yussim, A., Hazzan, M., Wekerle, T., Berglund, D., Biase, C. De, Perez-Saez, M.J., Muhlfeld, A., Orlando, G., Clemente, K., Lai, Q., Pisani, F., Kandus, A., Baas, M.C., Bemelman, F., Ponikvar, J.B., Mazouz, H., Stratta, P., Subra, J.F., Villemain, F., Hoitsma, A., Braun, L., Cantarell, M.C., Colak, H., Courtney, A., Frasca, G.M., Howse, M., Naesens, M., Reischig, T., Seron, D., Seyahi, N., Tugmen, C., Hernandez, A., Bena, L., Biancone, L., Cuna, V., Diaz-Corte, C., Dufay, A., Gaasbeek, A., Garnier, A., Gatault, P., Gentil Govantes, M.A., Glowacki, F., Gross, O., Hurault de Ligny, B., Huynh-Do, U., Janbon, B., Jimenez Del Cerro, L.A., Keller, F., Manna, G. La, Lauzurica, R., Monies De Sagazan, H. Le, Thaiss, F., Legendre, C., Martin, S., Moal, M.C., Noel, C., Pillebout, E., Piredda, G.B., Puga, A.R., Sulowicz, W., Tuglular, S., Prokopova, M., Chesneau, M., Moine, A. Le, Guerif, P., Soulillou, J.P., Abramowicz, M., Giral, M., Racape, J., Maggiore, U., Brouard, S., Abramowicz, D., Massart, A., Pallier, A., Pascual, J., Viklicky, O., Budde, K., Spasovski, G., Klinger, M., Sever, M.S., Sorensen, S.S., Hadaya, K., Oberbauer, R., Dudley, C., Fijter, J.W. de, Yussim, A., Hazzan, M., Wekerle, T., Berglund, D., Biase, C. De, Perez-Saez, M.J., Muhlfeld, A., Orlando, G., Clemente, K., Lai, Q., Pisani, F., Kandus, A., Baas, M.C., Bemelman, F., Ponikvar, J.B., Mazouz, H., Stratta, P., Subra, J.F., Villemain, F., Hoitsma, A., Braun, L., Cantarell, M.C., Colak, H., Courtney, A., Frasca, G.M., Howse, M., Naesens, M., Reischig, T., Seron, D., Seyahi, N., Tugmen, C., Hernandez, A., Bena, L., Biancone, L., Cuna, V., Diaz-Corte, C., Dufay, A., Gaasbeek, A., Garnier, A., Gatault, P., Gentil Govantes, M.A., Glowacki, F., Gross, O., Hurault de Ligny, B., Huynh-Do, U., Janbon, B., Jimenez Del Cerro, L.A., Keller, F., Manna, G. La, Lauzurica, R., Monies De Sagazan, H. Le, Thaiss, F., Legendre, C., Martin, S., Moal, M.C., Noel, C., Pillebout, E., Piredda, G.B., Puga, A.R., Sulowicz, W., Tuglular, S., Prokopova, M., Chesneau, M., Moine, A. Le, Guerif, P., Soulillou, J.P., Abramowicz, M., Giral, M., Racape, J., Maggiore, U., Brouard, S., and Abramowicz, D.

Abstract

Item does not contain fulltext, BACKGROUND: Kidney recipients maintaining a prolonged allograft survival in the absence of immunosuppressive drugs and without evidence of rejection are supposed to be exceptional. The ERA-EDTA-DESCARTES working group together with Nantes University launched a European-wide survey to identify new patients, describe them and estimate their frequency for the first time. METHODS: Seventeen coordinators distributed a questionnaire in 256 transplant centres and 28 countries in order to report as many 'operationally tolerant' patients (TOL; defined as having a serum creatinine <1.7 mg/dL and proteinuria <1 g/day or g/g creatinine despite at least 1 year without any immunosuppressive drug) and 'almost tolerant' patients (minimally immunosuppressed patients (MIS) receiving low-dose steroids) as possible. We reported their number and the total number of kidney transplants performed at each centre to calculate their frequency. RESULTS: One hundred and forty-seven questionnaires were returned and we identified 66 TOL (61 with complete data) and 34 MIS patients. Of the 61 TOL patients, 26 were previously described by the Nantes group and 35 new patients are presented here. Most of them were noncompliant patients. At data collection, 31/35 patients were alive and 22/31 still operationally tolerant. For the remaining 9/31, 2 were restarted on immunosuppressive drugs and 7 had rising creatinine of whom 3 resumed dialysis. Considering all patients, 10-year death-censored graft survival post-immunosuppression weaning reached 85% in TOL patients and 100% in MIS patients. With 218 913 kidney recipients surveyed, cumulative incidences of operational tolerance and almost tolerance were estimated at 3 and 1.5 per 10 000 kidney recipients, respectively. CONCLUSIONS: In kidney transplantation, operational tolerance and almost tolerance are infrequent findings associated with excellent long-term death-censored graft survival.

Published
2016

32. Alport syndrome from bench to bedside: The potential of current treatment beyond RAAS blockade and the horizon of future therapies

Author

Gross, O., Perin, L., Constantinou-Deltas, Constantinos D., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

Subjects
Paricalcitol, induced pluripotent stem cell, podocyte, MicroRNA-21, genotype phenotype correlation, Nephritis, Hereditary, Disease, Review, hydroxymethylglutaryl coenzyme A reductase inhibitor, hyperparathyroidism, Renin-Angiotensin System, Type IV collagen, angiotensin 1 receptor antagonist, cardiovascular disease, nephritis, renin angiotensin aldosterone system, dipeptidyl carboxypeptidase inhibitor, genetics, cerivastatin, kidney development, renin inhibitor, Proteinuria, hypercholesterolemia, adult, pathogenesis, drug effect, Discoidin domain receptor 1, unfolded protein response, unclassified drug, priority journal, Nephrology, Chaperon therapy, paricalcitol, recurrent infection, medicine.symptom, medicine.drug, Adult, Collagen Type IV, medicine.medical_specialty, microRNA 21, stem cell transplantation, Angiotensin Receptor Antagonists, Kidney fibrosis, collagen type 4, medicine, Humans, human, Alport syndrome, Intensive care medicine, collagen receptor, Transplantation, Hyperparathyroidism, nonhuman, business.industry, medicine.disease, embryonic stem cell, Blockade, very late activation antigen 1, angiotensin receptor antagonist, very late activation antigen 2, Immunology, Tubulointerstitial fibrosis, glomerulus basement membrane, prognosis, proteinuria, business, aldosterone antagonist
Abstract

The hereditary type IV collagen disease Alport syndrome (AS) always leads to end-stage renal failure. Yesterday, for the past 90 years, this course was described as 'inevitable'. Today, RAAS blockade has changed the 'inevitable' course to a treatable disease. Tomorrow, researchers hope to erase the 'always' from 'always leads to renal failure' in the textbooks. This review elucidates therapeutic targets that evolve from research: (i) kidney embryogenesis and pathogenesis (ii) phenotypegenotype correlation and the role of collagen receptors and podocytes (iii) the malfunctioning Alport-GBM (iv) tubulointerstitial fibrosis (v) the role of proteinuria in pathogenesis and prognosis and (vi) secondary events such as infections, hyperparathyroidism and hypercholesterolaemia. Therefore, moderate lifestyle, therapy of bacterial infections, Paricalcitol in adult patients with hyperparathyroidism and HMG-CoAreductase inhibitors in adult patients with dyslipoproteinemia might contribute to a slower progression of AS and less cardiovascular events. In the future, upcoming treatments including stem cells, chaperon therapy, collagen receptor blockade and anti-microRNA therapy will expand our perspective in protecting the kidneys of Alport patients from further damage. This perspective on current and future therapies is naturally limited by our personal focus in research, but aims to motivate young scientists and clinicians to find a multimodal cure for AS. © The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. 29 iv124 iv130 Cited By :14

Published
2014

35. Inhibitor of apoptosis (IAP) proteins limit RIP3 dependent IL-1 activation

Author

Vince, J E, Wong, W Wei-Lynn, Gentle, I E, Lawlor, K E, Allam, R, O'Reilly, L, Mason, K, Gross, O, Ma, S, Guarda, G, Anderton, H, Castillo, R, Häcker, G, Silke, J, Tschopp, J, and University of Zurich

Subjects
2403 Immunology, 2723 Immunology and Allergy, 570 Life sciences, biology, 610 Medicine & health, 2725 Infectious Diseases, 10263 Institute of Experimental Immunology
Published
2012

38. Generation and analysis of card9-deficient mice

Author

Groß, O.

Abstract

Fungal infections are increasing worldwide with the dramatic rise in immunodeficiencies including AIDS. However, the immune responses to such infections remain poorly understood. Dectin-1 is the major mammalian pattern recognition receptor for fungal cell wall components. In this work, Card9 was identified as a key transducer of Dectin-1 signaling. Card9 controls Dectin-1 mediated myeloid cell activation, cytokine production and innate anti-fungal immunity. Card9 couples to Bcl10 and regulates via Bcl10/Malt1 fungus-induced NF-κB activation. Card9-deficient mice have been generated, which show severe defects in the immune response to the pathogenic yeast Candida albicans. Furthermore, Card9 controls the activation of adaptive immune responses against fungal infections. These results represent a potential basis for the development of therapeutic strategies for the specific manipulation of anti-fungal immune responses.

Published
2008

41. HYPERTENSION: EXPERIMENTAL

Author

Yasuda, G., primary, Kinguchi, S., additional, Katsumata, M., additional, Hirawa, N., additional, Shibata, K., additional, Van Roeyen, C. R. C., additional, Drescher, A., additional, Hess, K., additional, Boor, P., additional, Martin, I. V., additional, Zok, S., additional, Braun, G., additional, Kuppe, C., additional, Liehn, E., additional, Weiskirchen, R., additional, Eriksson, U., additional, Gross, O., additional, Floege, J., additional, Eitner, F., additional, Ostendorf, T., additional, Mose, F. H., additional, Jensen, J. M., additional, Therwani, S., additional, Mortensen, J., additional, Hansen, A. B., additional, Bech, J. N., additional, Pedersen, E. B., additional, Vink, E. E., additional, De Boer, A., additional, Hoogduin, J. M., additional, Leiner, T., additional, Bots, M. L., additional, Blankestijn, P. J., additional, Silva Sousa, H., additional, Branco, P., additional, Dores, H., additional, Carvalho, M. S., additional, Goncalves, P., additional, Almeida, M. S., additional, Andrade, M. J., additional, Pereira, M., additional, Gaspar, M. A., additional, Mendes, M., additional, and Barata, J. D., additional

Published
2014
Full Text
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42. Outcomes of male patients with alport syndrome undergoing renal replacement therapy

Author

Temme, J., Kramer, A., Jager, K.J., Lange, K., Peters, F., Muller, G.A., Kramar, R., Heaf, J.G., Finne, P., Palsson, R., Reisaeter, A.V., Hoitsma, A.J., Metcalfe, W., Postorino, M., Zurriaga, O., Santos, J.P., Ravani, P., Jarraya, F., Verrina, E., Dekker, F.W., Gross, O., Temme, J., Kramer, A., Jager, K.J., Lange, K., Peters, F., Muller, G.A., Kramar, R., Heaf, J.G., Finne, P., Palsson, R., Reisaeter, A.V., Hoitsma, A.J., Metcalfe, W., Postorino, M., Zurriaga, O., Santos, J.P., Ravani, P., Jarraya, F., Verrina, E., Dekker, F.W., and Gross, O.

Abstract

Item does not contain fulltext, BACKGROUND AND OBJECTIVES: Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialysis, hemodialysis, or transplantation) with those of men with other renal diseases. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Patients with Alport syndrome receiving RRT identified from 14 registries in Europe were matched to patients with other renal diseases. A linear spline model was used to detect changes in the age at start of RRT over time. Kaplan-Meier method and Cox regression analysis were used to examine patient and graft survival. RESULTS: Age at start of RRT among patients with Alport syndrome remained stable during the 1990s but increased by 6 years between 2000-2004 and 2005-2009. Survival of patients with Alport syndrome requiring dialysis or transplantation did not change between 1990 and 2009. However, patients with Alport syndrome had better renal graft and patient survival than matched controls. Numbers of living-donor transplantations were lower in patients with Alport syndrome than in matched controls. CONCLUSIONS: These data suggest that kidney failure in patients with Alport syndrome is now being delayed compared with previous decades. These patients appear to have superior patient survival while undergoing dialysis and superior patient and graft survival after deceased-donor kidney transplantation compared with patients receiving RRT because of other causes of kidney failure.

Published
2012

43. Outcomes of Male Patients with Alport Syndrome Undergoing Renal Replacement Therapy

Author

Temme, J. (Johanna), Anneke Kramer, Jager, K.J. (Kitty), Lange, K. (Katharina), Peters, F. (Frederick), Müller, G.-A. (Gerhard-Anton), Reinhard Kramar, James G. Heaf, Finne, P. (Patrik), Runolfur Palsson, Anna V. Reisæter, Hoitsma, A.J. (Andries), Wendy Metcalfe, Postorino, M. (Maurizio), Oscar Zurriaga, Julio P. Santos, Pietro Ravani, Faical Jarraya, Verrina, E. (Enrico), Dekker, F.W. (Friedo), Gross, O. (Oliver), Temme, J. (Johanna), Anneke Kramer, Jager, K.J. (Kitty), Lange, K. (Katharina), Peters, F. (Frederick), Müller, G.-A. (Gerhard-Anton), Reinhard Kramar, James G. Heaf, Finne, P. (Patrik), Runolfur Palsson, Anna V. Reisæter, Hoitsma, A.J. (Andries), Wendy Metcalfe, Postorino, M. (Maurizio), Oscar Zurriaga, Julio P. Santos, Pietro Ravani, Faical Jarraya, Verrina, E. (Enrico), Dekker, F.W. (Friedo), and Gross, O. (Oliver)

Abstract

Background and objectives: Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialysis, hemodialysis, or transplantation) with those of men with other renal diseases. Design, setting, participants, & measurements: Patients with Alport syndrome receiving RRT identified from 14 registries in Europe were matched to patients with other renal diseases. A linear spline model was used to detect changes in the age at start of RRT over time. Kaplan-Meier method and Cox regression analysis were used to examine patient and graft survival. Results: Age at start of RRT among patients with Alport syndrome remained stable during the 1990s but increased by 6 years between 2000–2004 and 2005–2009. Survival of patients with Alport syndrome requiring dialysis or transplantation did not change between 1990 and 2009. However, patients with Alport syndrome had better renal graft and patient survival than matched controls. Numbers of living-donor transplantations were lower in patients with Alport syndrome than in matched controls. Conclusions: These data suggest that kidney failure in patients with Alport syndrome is now being delayed compared with previous decades. These patients appear to have superior patient survival while undergoing dialysis and superior patient and graft survival after deceased-donor kidney transplantation compared with patients receiving RRT because of other causes of kidney failure.

Published
2012
Full Text
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45. Stem cell therapy for Alport syndrome: the hope beyond the hype

Author

Gross, O, Borza, D B, Andres, H J, Licht, C, Weber, M, Segerer, S, Torra, R, Gubler, M C, Heidet, L, Harvey, S, Cosgrove, D, Lees, G, Kashtan, C, Gregory, M, Savige, J, Ding, J, Thorner, P, Abrahamson, D R, Antignac, C, Tryggvason, K, Hudson, B, Miner, J H, Gross, O, Borza, D B, Andres, H J, Licht, C, Weber, M, Segerer, S, Torra, R, Gubler, M C, Heidet, L, Harvey, S, Cosgrove, D, Lees, G, Kashtan, C, Gregory, M, Savige, J, Ding, J, Thorner, P, Abrahamson, D R, Antignac, C, Tryggvason, K, Hudson, B, and Miner, J H

Published
2009

47. Experimental pathology

Author

Yi Chun, D. X., primary, Alexandre, H., additional, Edith, B., additional, Nacera, O., additional, Julie, P., additional, Chantal, J., additional, Eric, R., additional, Zhang, X., additional, Jin, Y., additional, Miravete, M., additional, Dissard, R., additional, Klein, J., additional, Gonzalez, J., additional, Caubet, C., additional, Pecher, C., additional, Pipy, B., additional, Bascands, J.-L., additional, Mercier-Bonin, M., additional, Schanstra, J., additional, Buffin-Meyer, B., additional, Claire, R., additional, Rigothier, C., additional, Richard, D., additional, Sebastien, L., additional, Moin, S., additional, Chantal, B., additional, Christian, C., additional, Jean, R., additional, Migliori, M., additional, Cantaluppi, V., additional, Mannari, C., additional, Medica, D., additional, Giovannini, L., additional, Panichi, V., additional, Goldwich, A., additional, Alexander, S., additional, Andre, G., additional, Amann, K., additional, Migliorini, A., additional, Sagrinati, C., additional, Angelotti, M. L., additional, Mulay, S. R., additional, Ronconi, E., additional, Peired, A., additional, Romagnani, P., additional, Anders, H.-J., additional, Chiang, W. C., additional, Lai, C. F., additional, Peng, W.-H., additional, Wu, C. F., additional, Chang, F.-C., additional, Chen, Y.-T., additional, Lin, S.-L., additional, Chen, Y. M., additional, Wu, K. D., additional, Lu, K.-S., additional, Tsai, T. J., additional, Virgine, O., additional, Qing Feng, F., additional, Zhang, S.-Y., additional, Dominique, D., additional, Vincent, A., additional, Marina, C., additional, Philippe, L., additional, Georges, G., additional, Pawlak, A., additional, Sahali, D., additional, Matsumoto, S., additional, Kiyomoto, H., additional, Ichimura, A., additional, Dan, T., additional, Nakamichi, T., additional, Tsujita, T., additional, Akahori, K., additional, Ito, S., additional, Miyata, T., additional, Xie, S., additional, Zhang, B., additional, Shi, W., additional, Yang, Y., additional, Nagasu, H., additional, Satoh, M., additional, Kidokoro, K., additional, Nishi, Y., additional, Ihoriya, C., additional, Kadoya, H., additional, Sasaki, T., additional, Kashihara, N., additional, Wu, C.-F., additional, Chou, Y.-H., additional, Duffield, J., additional, Rocca, C., additional, Gregorini, M., additional, Corradetti, V., additional, Valsania, T., additional, Bedino, G., additional, Bosio, F., additional, Pattonieri, E. F., additional, Esposito, P., additional, Sepe, V., additional, Libetta, C., additional, Rampino, T., additional, Dal Canton, A., additional, Omori, H., additional, Kawada, N., additional, Inoue, K., additional, Ueda, Y., additional, Yamamoto, R., additional, Matsui, I., additional, Kaimori, J., additional, Takabatake, Y., additional, Moriyama, T., additional, Isaka, Y., additional, Rakugi, H., additional, Wasilewska, A., additional, Taranta-Janusz, K., additional, Deebek, W., additional, Kuroczycka-Saniutycz, E., additional, Lee, A. S., additional, Lee, J. E., additional, Jung, Y. J., additional, Kang, K. P., additional, Lee, S., additional, Kim, W., additional, Arfian, N., additional, Emoto, N., additional, Yagi, K., additional, Nakayama, K., additional, Hartopo, A. B., additional, Nugrahaningsih, D. A., additional, Yanagisawa, M., additional, Hirata, K.-I., additional, Munoz-Felix, J. M., additional, Lopez-Novoa, J. M., additional, Martinez-Salgado, C., additional, Oujo, B., additional, Arevalo, M., additional, Bernabeu, C., additional, Perez-Barriocanal, F., additional, Jesper, K., additional, Nathalie, V., additional, Pierre, G., additional, Yi Chun, D. X., additional, Iyoda, M., additional, Shibata, T., additional, Matsumoto, K., additional, Shindo-Hirai, Y., additional, Kuno, Y., additional, Wada, Y., additional, Akizawa, T., additional, Schwartz, I., additional, Schwartz, D., additional, Prot Bertoye, C., additional, Terryn, S., additional, Claver, J., additional, Beghdadi, W. B., additional, Monteiro, R., additional, Blank, U., additional, Devuyst, O., additional, Daugas, E., additional, Van Beneden, K., additional, Geers, C., additional, Pauwels, M., additional, Mannaerts, I., additional, Van den Branden, C., additional, Van Grunsven, L. A., additional, Seckin, I., additional, Pekpak, M., additional, Uzunalan, M., additional, Uruluer, B., additional, Kokturk, S., additional, Ozturk, Z., additional, Sonmez, H., additional, Yaprak, E., additional, Furuno, Y., additional, Tsutsui, M., additional, Morishita, T., additional, Shimokawa, H., additional, Otsuji, Y., additional, Yanagihara, N., additional, Kabashima, N., additional, Ryota, S., additional, Kanegae, K., additional, Miyamoto, T., additional, Nakamata, J., additional, Ishimatsu, N., additional, Tamura, M., additional, Nakagawa, T., additional, Ichikawa, K., additional, Miyamoto, M., additional, Takabayashi, D., additional, Yamazaki, H., additional, Kakeshita, K., additional, Koike, T., additional, Kagitani, S., additional, Tomoda, F., additional, Hamashima, T., additional, Ishii, Y., additional, Inoue, H., additional, Sasahara, M., additional, El Machhour, F., additional, Kerroch, M., additional, Mesnard, L., additional, Chatziantoniou, C., additional, Dussaule, J.-C., additional, Inui, K., additional, Sasai, F., additional, Maruta, Y., additional, Nishiwaki, H., additional, Kawashima, E., additional, Inoue, Y., additional, Yoshimura, A., additional, Musacchio, E., additional, Priante, G., additional, Valvason, C., additional, Sartori, L., additional, Baggio, B., additional, Kim, J. H., additional, Gross, O., additional, Diana, R., additional, Gry, D. H., additional, Asimal, B., additional, Johanna, T., additional, Imke, S.-E., additional, Lydia, W., additional, Gerhard-Anton, M., additional, Hassan, D., additional, Cano, J. L., additional, Griera, M., additional, Olmos, G., additional, Martin, P., additional, Cortes, M. A., additional, Lopez-Ongil, S., additional, Rodriguez-Puyol, D., additional, DE Frutos, S., additional, Gonzalez, M., additional, Luengo, A., additional, Rodriguez-Puyol, M., additional, Calleros, L., additional, Lupica, R., additional, Lacquaniti, A., additional, Donato, V., additional, Maggio, R., additional, Mastroeni, C., additional, Lucisano, S., additional, Cernaro, V., additional, Fazio, M. R., additional, Quartarone, A., additional, Buemi, M., additional, Kacik, M., additional, Goedicke, S., additional, Eggert, H., additional, Hoyer, J. D., additional, Wurm, S., additional, Steege, A., additional, Banas, M., additional, Kurtz, A., additional, Banas, B., additional, Lasagni, L., additional, Lazzeri, E., additional, Romoli, S., additional, Schaefer, I., additional, Teng, B., additional, Worthmann, K., additional, Haller, H., additional, Schiffer, M., additional, Prattichizzo, C., additional, Netti, G. S., additional, Rocchetti, M. T., additional, Cormio, L., additional, Carrieri, G., additional, Stallone, G., additional, Grandaliano, G., additional, Ranieri, E., additional, Gesualdo, L., additional, Kucher, A., additional, Smirnov, A., additional, Parastayeva, M., additional, Beresneva, O., additional, Kayukov, I., additional, Zubina, I., additional, Ivanova, G., additional, Abed, A., additional, Schlekenbach, L., additional, Foglia, B., additional, Kwak, B., additional, Chadjichristos, C., additional, Queisser, N., additional, Schupp, N., additional, Brand, S., additional, Himer, L., additional, Szebeni, B., additional, Sziksz, E., additional, Saijo, S., additional, Kis, E., additional, Prokai, A., additional, Banki, N. F., additional, Fekete, A., additional, Tulassay, T., additional, Vannay, A., additional, Hegner, B., additional, Schaub, T., additional, Lange, C., additional, Dragun, D., additional, Klinkhammer, B. M., additional, Rafael, K., additional, Monika, M., additional, Anna, M., additional, Van Roeyen, C., additional, Boor, P., additional, Eva Bettina, B., additional, Simon, O., additional, Esther, S., additional, Floege, J., additional, Kunter, U., additional, Janke, D., additional, Jankowski, J., additional, Hayashi, M., additional, Takamatsu, I., additional, Horimai, C., additional, Yoshida, T., additional, Seno DI Marco, G., additional, Koenig, M., additional, Stock, C., additional, Reiermann, S., additional, Amler, S., additional, Koehler, G., additional, Fobker, M., additional, Buck, F., additional, Pavenstaedt, H., additional, Lang, D., additional, Brand, M., additional, Plotnikov, E., additional, Morosanova, M., additional, Pevzner, I., additional, Zorova, L., additional, Pulkova, N., additional, Zorov, D., additional, Wornle, M., additional, Ribeiro, A., additional, Belling, F., additional, Merkle, M., additional, Nakazawa, D., additional, Nishio, S., additional, Shibasaki, S., additional, Tomaru, U., additional, Akihiro, I., additional, Kobayashi, I., additional, Imanishi, Y., additional, Kurajoh, M., additional, Nagata, Y., additional, Yamagata, M., additional, Emoto, M., additional, Michigami, T., additional, Ishimura, E., additional, Inaba, M., additional, Wu, C.-C., additional, Lu, K.-C., additional, Chen, J.-S., additional, Chu, P., additional, Lin, Y.-F., additional, Eller, K., additional, Schroll, A., additional, Kirsch, A., additional, Huber, J., additional, Weiss, G., additional, Theurl, I., additional, Rosenkranz, A. R., additional, Zawada, A., additional, Rogacev, K., additional, Achenbach, M., additional, Fliser, D., additional, Held, G., additional, Heine, G. H., additional, Miyamoto, Y., additional, Iwao, Y., additional, Watanabe, H., additional, Kadowaki, D., additional, Ishima, Y., additional, Chuang, V. T. G., additional, Sato, K., additional, Otagiri, M., additional, Maruyama, T., additional, Iwatani, H., additional, Honda, D., additional, Noguchi, T., additional, Tanaka, M., additional, Tanaka, H., additional, Fukagawa, M., additional, Pircher, J., additional, Koppel, S., additional, Mannell, H., additional, Krotz, F., additional, Virzi, G. M., additional, Bolin, C., additional, Cruz, D., additional, Scalzotto, E., additional, De Cal, M., additional, Vescovo, G., additional, Ronco, C., additional, Grobmayr, R., additional, Lech, M., additional, Ryu, M., additional, Aoshima, Y., additional, Mizobuchi, M., additional, Ogata, H., additional, Kumata, C., additional, Nakazawa, A., additional, Kondo, F., additional, Ono, N., additional, Koiwa, F., additional, Kinugasa, E., additional, Freisinger, W., additional, Lale, N., additional, Lampert, A., additional, Ditting, T., additional, Heinlein, S., additional, Schmieder, R. E., additional, Veelken, R., additional, Nave, H., additional, Perthel, R., additional, Suntharalingam, M., additional, Bode-Boger, S., additional, Beutel, G., additional, Kielstein, J., additional, Rodrigues-Diez, R., additional, Rayego-Mateos, S., additional, Lavoz, C., additional, Stark Aroeira, L. G., additional, Orejudo, M., additional, Alique, M., additional, Ortiz, A., additional, Egido, J., additional, Ruiz-Ortega, M., additional, Oskar, W., additional, Rusan, C., additional, Padberg, J.-S., additional, Wiesinger, A., additional, Reuter, S., additional, Grabner, A., additional, Kentrup, D., additional, Lukasz, A., additional, Oberleithner, H., additional, Pavenstadt, H., additional, Kumpers, P., additional, Eberhardt, H. U., additional, Skerka, C., additional, Chen, Q., additional, Hallstroem, T., additional, Hartmann, A., additional, Kemper, M. J., additional, Zipfel, P. F., additional, N'gome-Sendeyo, K., additional, Fan, Q.-F., additional, Toblli, J., additional, Cao, G., additional, Giani, J. F., additional, Dominici, F. P., additional, Kim, J. S., additional, Yang, J. W., additional, Kim, M. K., additional, Han, B. G., additional, and Choi, S. O., additional

Published
2012
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48. Genetic diseases

Author

Inazu, T., primary, Kawahara, T., additional, Endou, H., additional, Anzai, N., additional, Sebesta, I., additional, Stiburkova, B., additional, Ichida, K., additional, Hosoyamada, M., additional, Testa, A., additional, Leonardis, D., additional, Catalano, F., additional, Pisano, A., additional, Mafrica, A., additional, Spoto, B., additional, Sanguedolce, M. C., additional, Parlongo, R. M., additional, Tripepi, G., additional, Postorino, M., additional, Enia, G., additional, Zoccali, C., additional, Mallamaci, F., additional, Working Group*, M., additional, Luque de Pablos, A., additional, Garcia-Nieto, V., additional, Lopez-Menchero, J. C., additional, Ramos-Trujillo, E., additional, Gonzalez-Acosta, H., additional, Claverie-Martin, F., additional, Arsali, M., additional, Demosthenous, P., additional, Papazachariou, L., additional, Athanasiou, Y., additional, Voskarides, K., additional, Deltas, C., additional, Pierides, A., additional, Lee, S., additional, Jeong, K. H., additional, Ihm, C., additional, Lee, T. W., additional, Lee, S. H., additional, Moon, J. Y., additional, Wi, J. G., additional, Lee, H. J., additional, Kim, E. Y., additional, Rogacev, K., additional, Friedrich, A., additional, Hummel, B., additional, Berg, J., additional, Zawada, A., additional, Fliser, D., additional, Geisel, J., additional, Heine, G. H., additional, Brabcova, I., additional, Dusilova-Sulkova, S., additional, Krejcik, Z., additional, Stranecky, V., additional, Lipar, K., additional, Marada, T., additional, Stepankova, J., additional, Viklicky, O., additional, Buraczynska, M., additional, Zukowski, P., additional, Zaluska, W., additional, Kuczmaszewska, A., additional, Ksiazek, A., additional, Gaggl, M., additional, Weidner, S., additional, Hofer, M., additional, Kleinert, J., additional, Fauler, G., additional, Wallner, M., additional, Kotanko, P., additional, Sunder-Plassmann, G., additional, Paschke, E., additional, Heguilen, R., additional, Albarracin, L., additional, Politei, J., additional, Liste, A. A., additional, Bernasconi, A., additional, Kusano, E., additional, Russo, R., additional, Pisani, A., additional, Messalli, G., additional, Imbriaco, M., additional, Prikhodina, L., additional, Ryzhkova, O., additional, Polyakov, V., additional, Lipkowska, K., additional, Ostalska-Nowicka, D., additional, Smiech, M., additional, Jaroniec, M., additional, Zaorska, K., additional, Szaflarski, W., additional, Nowicki, M., additional, Zachwieja, J., additional, D'arrigo, G., additional, Moskowitz, J., additional, Piret, S., additional, Tashman, A., additional, Velez, E., additional, Lhotta, K., additional, Thakker, R., additional, Cox, J., additional, Kingswood, J., additional, Mbundi, J., additional, Attard, G., additional, Patel, U., additional, Saggar, A., additional, Elmslie, F., additional, Doyle, T., additional, Jansen, A., additional, Jozwiak, S., additional, Belousova, E., additional, Frost, M., additional, Kuperman, R., additional, Bebin, M., additional, Korf, B., additional, Flamini, R., additional, Kohrman, M., additional, Sparagana, S., additional, Wu, J., additional, Ford, J., additional, Shah, G., additional, Franz, D., additional, Zonnenberg, B., additional, Cheung, W., additional, Urva, S., additional, Wang, J., additional, Kingswood, C., additional, Budde, K., additional, Kofman, T., additional, Narjoz, C., additional, Raimbourg, Q., additional, Roland, M., additional, Loriot, M.-A., additional, Karras, A., additional, Hill, G. S., additional, Jacquot, C., additional, Nochy, D., additional, Thervet, E., additional, Jagodzinski, P., additional, Mostowska, M., additional, Oko, A., additional, Nicolaou, N., additional, Kevelam, S., additional, Lilien, M., additional, Oosterveld, M., additional, Goldschmeding, R., additional, Van Eerde, A., additional, Pfundt, R., additional, Sonnenberg, A., additional, Ter Hal, P., additional, Knoers, N., additional, Renkema, K., additional, Storm, T., additional, Nielsen, R., additional, Christensen, E., additional, Frykholm, C., additional, Tranebjaerg, L., additional, Birn, H., additional, Verroust, P., additional, Neveus, T., additional, Sundelin, B., additional, Hertz, J. M., additional, Holmstrom, G., additional, Ericson, K., additional, Fabris, A., additional, Cremasco, D., additional, Zambon, A., additional, Muraro, E., additional, Alessi, M., additional, D'angelo, A., additional, Anglani, F., additional, Del Prete, D., additional, Alkmim Teixeira, A., additional, Quinto, B. M., additional, Jose Rodrigues, C., additional, Beltrame Ribeiro, A., additional, Batista, M., additional, Kerti, A., additional, Csohany, R., additional, Szabo, A., additional, Arkossy, O., additional, Sallai, P., additional, Moriniere, V., additional, Vega-Warner, V., additional, Lakatos, O., additional, Szabo, T., additional, Reusz, G., additional, Tory, K., additional, Addis, M., additional, Tosetto, E., additional, Meloni, C., additional, Ceol, M., additional, Cristofaro, R., additional, Melis, M. A., additional, Vercelloni, P., additional, Marra, G., additional, Kaniuka, S., additional, Nagel, M., additional, Wolyniec, W., additional, Obolonczyk, L., additional, Swiatkowska-Stodulska, R., additional, Sworczak, K., additional, Rutkowski, B., additional, Chen, C., additional, Jiang, L., additional, Chen, L., additional, Fang, L., additional, Mozes M., M., additional, Boosi, M., additional, Rosivall, L., additional, Kokeny, G., additional, Diana, R., additional, Gross, O., additional, Johanna, T., additional, Rainer, G., additional, Ayse, C., additional, Henrik, H., additional, Gerhard-Anton, M., additional, Nabil, M., additional, Intissar, E., additional, Belge, H., additional, Bloch, J., additional, Dahan, K., additional, Pirson, Y., additional, Vanhille, P., additional, and Demoulin, N., additional

Published
2012
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