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2. A Mouse Model Suggests Two Mechanisms for Thyroid Alterations in Infantile Cystinosis: Decreased Thyroglobulin Synthesis Due to Endoplasmic Reticulum Stress/Unfolded Protein Response and Impaired Lysosomal Processing

Author

Chevronnay, HP Gaide, Janssens, V, Van Der Smissen, P, Liao, XH, Abid, Y, Nevo, N, Antignac, C, Refetoff, S, Cherqui, S, Pierreux, CE, and Courtoy, PJ

Subjects
Medical Physiology, Biomedical and Clinical Sciences, Rare Diseases, Genetics, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Metabolic and endocrine, Amino Acid Transport Systems, Neutral, Animals, Cystinosis, Endoplasmic Reticulum Stress, Female, Lysosomes, Male, Mice, Thyroglobulin, Unfolded Protein Response, Biological Sciences, Agricultural and Veterinary Sciences, Medical and Health Sciences, Endocrinology & Metabolism, Clinical sciences
Abstract

Thyroid hormones are released from thyroglobulin (Tg) in lysosomes, which are impaired in infantile/nephropathic cystinosis. Cystinosis is a lysosomal cystine storage disease due to defective cystine exporter, cystinosin. Cystinotic children develop subclinical and then overt hypothyroidism. Why hypothyroidism is the most frequent and earliest endocrine complication of cystinosis is unknown. We here defined early alterations in Ctns(-/-) mice thyroid and identified subcellular and molecular mechanisms. At 9 months, T4 and T3 plasma levels were normal and TSH was moderately increased (∼4-fold). By histology, hyperplasia and hypertrophy of most follicles preceded colloid exhaustion. Increased immunolabeling for thyrocyte proliferation and apoptotic shedding indicated accelerated cell turnover. Electron microscopy revealed endoplasmic reticulum (ER) dilation, apical lamellipodia indicating macropinocytic colloid uptake, and lysosomal cystine crystals. Tg accumulation in dilated ER contrasted with mRNA down-regulation. Increased expression of ER chaperones, glucose-regulated protein of 78 kDa and protein disulfide isomerase, associated with alternative X-box binding protein-1 splicing, revealed unfolded protein response (UPR) activation by ER stress. Decreased Tg mRNA and ER stress suggested reduced Tg synthesis. Coordinated increase of UPR markers, activating transcription factor-4 and C/EBP homologous protein, linked ER stress to apoptosis. Hormonogenic cathepsins were not altered, but lysosome-associated membrane protein-1 immunolabeling disclosed enlarged vesicles containing iodo-Tg and impaired lysosomal fusion. Isopycnic fractionation showed iodo-Tg accumulation in denser lysosomes, suggesting defective lysosomal processing and hormone release. In conclusion, Ctns(-/-) mice showed the following alterations: 1) compensated primary hypothyroidism and accelerated thyrocyte turnover; 2) impaired Tg production linked to ER stress/UPR response; and 3) altered endolysosomal trafficking and iodo-Tg processing. The Ctns(-/-) thyroid is useful to study disease progression and evaluate novel therapies.

Published
2015

3. A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.

Author

Gaide Chevronnay, HP, Janssens, V, Van Der Smissen, P, Liao, XH, Abid, Y, Nevo, N, Antignac, C, Refetoff, S, Cherqui, S, Pierreux, CE, and Courtoy, PJ

Subjects
Lysosomes, Animals, Mice, Cystinosis, Amino Acid Transport Systems, Neutral, Thyroglobulin, Female, Male, Unfolded Protein Response, Endoplasmic Reticulum Stress, Endocrinology & Metabolism, Agricultural and Veterinary Sciences, Medical and Health Sciences, Biological Sciences
Abstract

Thyroid hormones are released from thyroglobulin (Tg) in lysosomes, which are impaired in infantile/nephropathic cystinosis. Cystinosis is a lysosomal cystine storage disease due to defective cystine exporter, cystinosin. Cystinotic children develop subclinical and then overt hypothyroidism. Why hypothyroidism is the most frequent and earliest endocrine complication of cystinosis is unknown. We here defined early alterations in Ctns(-/-) mice thyroid and identified subcellular and molecular mechanisms. At 9 months, T4 and T3 plasma levels were normal and TSH was moderately increased (∼4-fold). By histology, hyperplasia and hypertrophy of most follicles preceded colloid exhaustion. Increased immunolabeling for thyrocyte proliferation and apoptotic shedding indicated accelerated cell turnover. Electron microscopy revealed endoplasmic reticulum (ER) dilation, apical lamellipodia indicating macropinocytic colloid uptake, and lysosomal cystine crystals. Tg accumulation in dilated ER contrasted with mRNA down-regulation. Increased expression of ER chaperones, glucose-regulated protein of 78 kDa and protein disulfide isomerase, associated with alternative X-box binding protein-1 splicing, revealed unfolded protein response (UPR) activation by ER stress. Decreased Tg mRNA and ER stress suggested reduced Tg synthesis. Coordinated increase of UPR markers, activating transcription factor-4 and C/EBP homologous protein, linked ER stress to apoptosis. Hormonogenic cathepsins were not altered, but lysosome-associated membrane protein-1 immunolabeling disclosed enlarged vesicles containing iodo-Tg and impaired lysosomal fusion. Isopycnic fractionation showed iodo-Tg accumulation in denser lysosomes, suggesting defective lysosomal processing and hormone release. In conclusion, Ctns(-/-) mice showed the following alterations: 1) compensated primary hypothyroidism and accelerated thyrocyte turnover; 2) impaired Tg production linked to ER stress/UPR response; and 3) altered endolysosomal trafficking and iodo-Tg processing. The Ctns(-/-) thyroid is useful to study disease progression and evaluate novel therapies.

Published
2015

5. Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns.

Author

Cherqui, S, Kalatzis, V, Forestier, L, Poras, I, and Antignac, C

Subjects
Bioinformatics, Biological Sciences, Medical and Health Sciences, Information and Computing Sciences
Abstract

BackgroundCystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before the age of ten. The causative gene, CTNS, was cloned in 1998 and the encoded protein, cystinosin, was predicted to be a lysosomal membrane protein.ResultsWe have cloned the murine homologue of CTNS, Ctns, and the encoded amino acid sequence is 92.6% similar to cystinosin. We localised Ctns to mouse chromosome 11 in a region syntenic to human chromosome 17 containing CTNS. Ctns is widely expressed in all tissues tested with the exception of skeletal muscle, in contrast to CTNS.ConclusionsWe have isolated, characterised and localised Ctns, the murine homologue of CTNS underlying cystinosis. Furthermore, our work has brought to light the existence of a differential pattern of expression between the human and murine homologues, providing critical information for the generation of a mouse model for cystinosis.

Published
2000

7. 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

8. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Author

Schueler, Markus, Halbritter, Jan, Phelps, Ian G, Braun, Daniela A, Otto, Edgar A, Porath, Jonathan D, Gee, Heon Yung, Shendure, Jay, OʼRoak, Brian J, Lawson, Jennifer A, Nabhan, Marwa M, Soliman, Neveen A, Doherty, Dan, Hildebrandt, Friedhelm, Yalcinkaya, F, Bakkaloglu, S, Ozaltin, F, Comak, E, Krull, F, Schmitz-Hübner, Rupprecht, H, Muller, D, Dahlem, P, Hoppe, B, Wolfe, M, Weber, M, Vester, U, Bonzel, K, Nikolay, J, Hansmann, I, Wiefel, M, Orth, U, Pfleiderer, H, Pape, L, Morlot, Ehrich, J, Tonshoff, B, Schindera, F, Hoefele, J, Griebel, M, Broeking, E, Konrad, M, Radke, M, Brandis, M, Kirchhoff, A, Feygina, V, Springate, J, Ahmadzdeh, S, Gipson, D, Becker, A, Dharnidharka, V, Mark, P, Srivaths, P, Wilson, A, Kamil, E, Why, S, Pan, C, Kashtan, C, D’Alessandri, C, Trachtman, H, Kaplan, B, Joseph, M, Weiss, R, Thomas, S, Newberry, L, Koyun, M, Fathy, H, RybiSzuminska, A, Szczepanska, M, Dolezel, Z, Malina, M, Seeman, T, Honzik, T, Ferreira, P, Ferguson, M, Harvey, E, Chong, K, Sandford, R, Josifova, D, Bockenhauer, D, Sayer, J, Johnson, C, Senguttuvan, P, Pela, I, Knops, N, Levart, T, Neuhaus, T, Ayuso, C, Kindi, A, Knoers, N, Antignac, C, Radauer, W, Genzani, C, Berg, U, Klingenberg, C, Jones, C, Savarirayan, R, and Kausman, J

Published
2016
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11. Renal replacement therapy for autosomal dominant polycystic kidney disease (ADPKD) in Europe: prevalence and survival—an analysis of data from the ERA-EDTA Registry

Author

Spithoven, Edwin M., Kramer, Anneke, Meijer, Esther, Orskov, Bjarne, Wanner, Christoph, Abad, Jose M., Aresté, Nuria, Alonso de la Torre, Ramón, Caskey, Fergus, Couchoud, Cécile, Finne, Patrik, Heaf, James, Hoitsma, Andries, de Meester, Johan, Pascual, Julio, Postorino, Maurizio, Ravani, Pietro, Zurriaga, Oscar, Jager, Kitty J., Gansevoort, Ron T., de los Ángeles García Bazaga, M., Metcalfe, W., Rodrigo, E., Quirós, J.R., Budde, K., Devuyst, O., Ecder, T., Eckardt, K.U., Gansevoort, R.T., Köttgen, A., Ong, A.C., Petzold, K., Pirson, Y., Remuzzi, G., Torra, R., Sandford, R.N., Serra, A.L., Tesar, V., Walz, G., Wüthrich, R.P., Antignac, C., Bindels, R., Chauveau, D., Devuyst, O., Emma, F., Gansevoort, R.T., Maxwell, P.H., Ong, A.C., Remuzzi, G., Ronco, P., and Schaefer, F.

Published
2014
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13. SAT-449 PSEUDOURIDYLATION DEFECT DUE TO DKC1 AND NOP10 MUTATIONS CAUSE NEPHROTIC SYNDROME, CATARACT, DEAFNESS AND ENTEROCOLITIS

Author

Balogh, E., primary, Varga, M., additional, Chandler, J., additional, Tahoun, M., additional, K. Menyhárd, D., additional, Schay, G., additional, Légrádi, R., additional, Williams, H., additional, Nürnberg, P., additional, Szabó, A., additional, Long, D.A., additional, Tomita, K., additional, Antignac, C., additional, Waters, A., additional, and Tory, K., additional

Published
2020
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21. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Author

Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., Hussain, M.S., Daga, A., Widmeier, E., Rao, J., Ashraf, S., Tan, W., Lusk, C.P., Kolb, A., Jobst-Schwan, T., Schmidt, J.M., Hoogstraten, C.A., Eddy, K., Kitzler, T.M., Shril, S., Moawia, A., Schrage, K., Khayyat, A.I.A., Lawson, J.A., Gee, H.Y., Warejko, J.K., Hermle, T., Majmundar, A.J., Hugo, H., Budde, B., Motameny, S., Altmuller, J., Noegel, A.A., Fathy, H.M., Gale, D.P., Waseem, S.S., Khan, A., Kerecuk, L., Hashmi, S., Mohebbi, N., Ettenger, R., Serdaroglu, E., Alhasan, K.A., Hashem, M., Goncalves, S., Ariceta, G., Ubetagoyena, M., Antonin, W., Baig, S.M., Alkuraya, F.S., Shen, Q., Xu, H., Antignac, C., Lifton, R.P., Mane, S., Nurnberg, P., Khokha, M.K., Hildebrandt, F., Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., Hussain, M.S., Daga, A., Widmeier, E., Rao, J., Ashraf, S., Tan, W., Lusk, C.P., Kolb, A., Jobst-Schwan, T., Schmidt, J.M., Hoogstraten, C.A., Eddy, K., Kitzler, T.M., Shril, S., Moawia, A., Schrage, K., Khayyat, A.I.A., Lawson, J.A., Gee, H.Y., Warejko, J.K., Hermle, T., Majmundar, A.J., Hugo, H., Budde, B., Motameny, S., Altmuller, J., Noegel, A.A., Fathy, H.M., Gale, D.P., Waseem, S.S., Khan, A., Kerecuk, L., Hashmi, S., Mohebbi, N., Ettenger, R., Serdaroglu, E., Alhasan, K.A., Hashem, M., Goncalves, S., Ariceta, G., Ubetagoyena, M., Antonin, W., Baig, S.M., Alkuraya, F.S., Shen, Q., Xu, H., Antignac, C., Lifton, R.P., Mane, S., Nurnberg, P., Khokha, M.K., and Hildebrandt, F.

Abstract

Item does not contain fulltext, Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion of SRNS remains unexplained. Recently, it was discovered that mutations of NUP93 and NUP205, encoding 2 proteins of the inner ring subunit of the nuclear pore complex (NPC), cause SRNS. Here, we describe mutations in genes encoding 4 components of the outer rings of the NPC, namely NUP107, NUP85, NUP133, and NUP160, in 13 families with SRNS. Using coimmunoprecipitation experiments, we showed that certain pathogenic alleles weakened the interaction between neighboring NPC subunits. We demonstrated that morpholino knockdown of nup107, nup85, or nup133 in Xenopus disrupted glomerulogenesis. Re-expression of WT mRNA, but not of mRNA reflecting mutations from SRNS patients, mitigated this phenotype. We furthermore found that CRISPR/Cas9 knockout of NUP107, NUP85, or NUP133 in podocytes activated Cdc42, an important effector of SRNS pathogenesis. CRISPR/Cas9 knockout of nup107 or nup85 in zebrafish caused developmental anomalies and early lethality. In contrast, an in-frame mutation of nup107 did not affect survival, thus mimicking the allelic effects seen in humans. In conclusion, we discovered here that mutations in 4 genes encoding components of the outer ring subunits of the NPC cause SRNS and thereby provide further evidence that specific hypomorphic mutations in these essential genes cause a distinct, organ-specific phenotype.

Published
2018

27. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report

Author

Eckardt, K. -U, Alper, S. L., Antignac, C., Bleyer, A. J., Chauveau, D., Dahan, K., Constantinou-Deltas, Constantinos D., Hosking, A., Kmoch, S., Rampoldi, L., Wiesener, M., Wolf, M. T., Devuyst, O., Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169], Eckardt, Ku, Alper, Sl, Antignac, C, Bleyer, Aj, Chauveau, D, Dahan, K, Deltas, C, Hosking, A, Kmoch, S, Rampoldi, L, Wiesener, M, Wolf, Mt, and Devuyst, O

Subjects
Pathology, Tamm–Horsfall protein, glomerulus filtration rate, genetic association, Gout, uromodulin, kidney disease, DNA Mutational Analysis, treatment contraindication, Disease, hyperuricemia, Medullary cystic kidney disease, preprorenin, REN gene, Tamm Horsfall glycoprotein, Pathognomonic, medical terminology, genetics, gene mutation, autosomal dominant tubulointerstitial kidney disease, pathophysiology, HNF1B gene, biology, predictive value, hepatocyte nuclear factor-1β, consensus development, genetic screening, deficiency, HNF1B, Polycystic Kidney, Autosomal Dominant, genetic code, Phenotype, Treatment Outcome, priority journal, classification, diagnostic test, Nephrology, standards, nomenclature, Kidney Diseases, medicine.medical_specialty, Consensus, phenotype, disease classification, nephrology, kidney transplantation, MUC1 gene, Hyperuricemia, Article, medication therapy management, UMOD gene, gout, Predictive Value of Tests, Terminology as Topic, Uromodulin, medicine, follow up, Humans, Genetic Predisposition to Disease, human, business.industry, practice guideline, hepatocyte nuclear factor 1beta, medicine.disease, mucin 1, clinical feature, renin, consensus, nephronophthisis, Mutation, biology.protein, Tubulointerstitial fibrosis, treatment outcome, Diagnosis Classification, genetic disorder, mutation, business, genetic predisposition, dna mutational analysis, Kidney disease, mucin-1
Abstract

Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology for this group of diseases using the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria. Implementation of these recommendations is anticipated to facilitate recognition and characterization of these monogenic diseases. A better understanding of these rare disorders may be relevant for the tubulointerstitial fibrosis component in many forms of chronic kidney disease. 88 676 683 Cited By :41

Published
2014

28. Cakutome, a high-throughput tool for molecular diagnosis and identification of novel causative genes for CAKUT patients

Author

Heidet, L., primary, Morinière, V., additional, Henry, C., additional, De Tomasi, L., additional, Campait, R., additional, Alibeu, O., additional, Fourrage, C., additional, Bole-Feysot, C., additional, Nitschké, P., additional, Pietrement, C., additional, Gaillard, D., additional, Gonzales, M., additional, Novo, R., additional, Schaeffer, E., additional, Roume, J., additional, Martinovic, J., additional, Salomon, R., additional, Saunier, S., additional, Antignac, C., additional, and Jeanpierre, C., additional

Published
2017
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30. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

Author

Bleyer, A. J., Kmoch, S., Antignac, C., Robins, V., Kidd, K., Kelsoe, J. R., Hladik, G., Klemmer, P., Knohl, S. J., Scheinman, S. J., Vo, N., Santi, A., Harris, A., Canaday, O., Weller, N., Hulick, P. J., Vogel, K., Rahbari-Oskoui, F. F., Tuazon, J., Constantinou-Deltas, Constantinos D., Somers, D., Megarbane, A., Kimmel, P. L., Sperati, C. J., Orr-Urtreger, A., Ben-Shachar, S., Waugh, D. A., Mcginn, S., Bleyer Jr., A. J., Hodaňová, K., Vyletal, P., Živná, M., Hart, T. C., Hart, P. S., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

Subjects
Male, Pathology, glomerulus filtration rate, Time Factors, Epidemiology, urinalysis, medicine.medical_treatment, DNA Mutational Analysis, variable number of tandem repeat, genetic analysis, Critical Care and Intensive Care Medicine, Medullary cystic kidney disease, Kidney, Gastroenterology, Tamm Horsfall glycoprotein, Risk Factors, middle aged, gene mutation, Registries, Aged, 80 and over, adult, article, Age Factors, Middle Aged, Polycystic Kidney, Autosomal Dominant, Pedigree, female, medicine.anatomical_structure, Phenotype, genotyping technique, Nephrology, Mutation (genetic algorithm), Disease Progression, Female, mutational analysis, Adult, medicine.medical_specialty, Adolescent, Risk Assessment, Young Adult, medullary sponge kidney, male, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, human, chromosome 1, Dialysis, Aged, Retrospective Studies, Transplantation, business.industry, Mucin-1, Editorials, Retrospective cohort study, mucin 1, medicine.disease, major clinical study, renin, Mutation, Kidney Failure, Chronic, Gene-Environment Interaction, Age of onset, business, Kidney disease
Abstract

Background and objectives The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a protein that is present in skin, breast, and lung tissue, the gastrointestinal tract, and the distal tubules of the kidney. The purpose of this investigationwas to analyze the clinical characteristics of families and individuals with this mutation. Design, setting, participants, & measurements Families with autosomal dominant interstitial kidney diseasewere referred for genetic analysis over a 14-year period. Families without UMOD or REN mutations prospectively underwent genotyping for the presence of the MUC1 mutation. Clinical characteristics were retrospectively evaluated in individuals with the MUC1 mutation and historically affected individuals (persons who were both related to genetically affected individuals in such a way that ensured that they could be genetically affected and had a history of CKD stage IV or kidney failure resulting in death, dialysis, or transplantation). Results Twenty-four families were identified with the MUC1 mutation. Of 186 family members undergoing MUC1 mutational analysis, the mutation was identified in 95 individuals, 91 individuals did not have the mutation, and111 individuals were identified as historically affected. Individuals with the MUC1 mutation suffered from chronic kidney failure with a widely variable age of onset of end stage kidney disease ranging from 16 to.80 years. Urinalyses revealed minimal protein and no blood. Ultrasounds of 35 individuals showed no medullary cysts. There were no clinical manifestations of the MUC1 mutation detected in the breasts, skin, respiratory system, or gastrointestinal tract. ConclusionMUC1 mutation results in progressive chronic kidney failurewith a bland urinary sediment. The age of onset of end stage kidney disease is highly variable, suggesting that gene-gene or gene-environment interactions contribute to phenotypic variability. © 2014 by the American Society of Nephrology. 9 527 535 Cited By :15

Published
2014

31. Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease

Author

Spithoven, E., Kramer, A., Meijer, E., Orskov, B., Wanner, C., Caskey, F., Collart, F., Finne, P., Fogarty, D., Groothoff, J., Hoitsma, A., Nogier, M., Postorino, M., Ravani, P., Zurriaga, O., Jager, K., Gansevoort, R., ERA EDTA Registry, Eurocyst, C., Wgikd, Aresté N, W.G.I.K.D., Arias, M., Couchoud, C., Budde, K., Chauveau, D., Devuyst, O., Ecder, T., Eckardt, K., Köttgen, A., Ong, A., Petzold, K., Pirson, Y., Remuzzi, G., Torra, R., Sandford, R., Serra, A., Tesar, V., Walz, G., Wüthrich, R., Antignac, C., Bindels, R., Emma, F., Maxwell, P., Ronco, P., Schaefer, F., ACS - Amsterdam Cardiovascular Sciences, APH - Amsterdam Public Health, Medical Informatics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Paediatric Nephrology, University of Zurich, Gansevoort, Ron T, Cardiovascular Centre (CVC), and Groningen Kidney Center (GKC)

Subjects
Change over time, medicine.medical_specialty, EUROPE, medicine.medical_treatment, Population, Autosomal dominant polycystic kidney disease, PROGRESSION, urologic and male genital diseases, 10052 Institute of Physiology, Internal medicine, medicine, In patient, Renal replacement therapy, education, BLOOD-PRESSURE CONTROL, POPULATION, ADPKD, Epidemiology, Renoprotective therapy, Nephrology, Settore MED/14 - Nefrologia, Kidney, education.field_of_study, 2727 Nephrology, business.industry, urogenital system, Incidence (epidemiology), Other Research Radboud Institute for Health Sciences [Radboudumc 0], medicine.disease, TRENDS, female genital diseases and pregnancy complications, Surgery, medicine.anatomical_structure, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 570 Life sciences, biology, GROWTH, epidemiology, business, Kidney disease, renoprotective therapy
Abstract

Item does not contain fulltext Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of end-stage kidney failure, but is often identified early and therefore amenable to timely treatment. Interventions known to postpone the need for renal replacement therapy (RRT) in non-ADPKD patients have also been tested in ADPKD patients, but with inconclusive results. To help resolve this we determined changes in RRT incidence rates as an indicator for increasing effective renoprotection over time in ADPKD. We analyzed data from the European Renal Association-European Dialyses and Transplant Association Registry on 315,444 patients starting RRT in 12 European countries between 1991 and 2010, grouped into four 5-year periods. Of them, 20,596 were due to ADPKD. Between the first and last period the mean age at onset of RRT increased from 56.6 to 58.0 years. The age- and gender-adjusted incidence rate of RRT for ADPKD increased slightly over the four periods from 7.6 to 8.3 per million population. No change over time was found in the incidence of RRT for ADPKD up to age 50, whereas in recent time periods the incidence in patients above the age of 70 clearly increased. Among countries there was a significant positive association between RRT take-on rates for non-ADPKD kidney disease and ADPKD. Thus, the increased age at onset of RRT is most likely due to an increased access for elderly ADPKD patients or lower competing risk prior to the start of RRT rather than the consequence of effective emerging renoprotective treatments for ADPKD. 01 december 2014

Published
2014

33. Utilisation du modèle Drosophile dans la validation de gènes candidats dans le syndrome néphrotique cortico-résistant

Author

Lachaussée, N., primary, Gonçalves, S., additional, Arrondel, C., additional, Helmstaedter, M., additional, Kretz, O., additional, Boyer, O., additional, Gribouval, O., additional, Bole-Feysot, C., additional, Nitschke, P., additional, Gubler, M.-C., additional, Huber, T.B., additional, Mollet, G., additional, Simons, M., additional, and Antignac, C., additional

Published
2016
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34. Le « Cakutome », un outil de séquençage haut-débit ciblé pour le diagnostic moléculaire et l’identification de nouveaux gènes impliqués dans les anomalies du développement des reins et des voies urinaires

Author

Jeanpierre, C., primary, Humbert, C., additional, Morinière, V., additional, Bole-Feysot, C., additional, Nitschké, P., additional, Fourrage, C., additional, Salomon, R., additional, Antignac, C., additional, and Heidet, L., additional

Published
2016
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35. A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.

Author

UCL - SSS/DDUV - Institut de Duve, UCL - (SLuc) Service de biologie hématologique, UCL - SSS/IRSS - Institut de recherche santé et société, UCL - MD/RMED/CAMG - Centre académique de médecine générale, Gaide Chevronnay, Héloïse P., Janssens, Virginie, Van Der Smissen, Patrick, Liao, X H, Abid, Yasmin, Nevo, N, Antignac, C, Refetoff, S, Cherqui, S, Pierreux, Christophe, Courtoy, Pierre J., UCL - SSS/DDUV - Institut de Duve, UCL - (SLuc) Service de biologie hématologique, UCL - SSS/IRSS - Institut de recherche santé et société, UCL - MD/RMED/CAMG - Centre académique de médecine générale, Gaide Chevronnay, Héloïse P., Janssens, Virginie, Van Der Smissen, Patrick, Liao, X H, Abid, Yasmin, Nevo, N, Antignac, C, Refetoff, S, Cherqui, S, Pierreux, Christophe, and Courtoy, Pierre J.

Abstract

Thyroid hormones are released from thyroglobulin (Tg) in lysosomes, which is impaired in infantile/nephropathic cystinosis. Cystinosis is a lysosomal cystine storage disease due to defective cystine exporter, cystinosin (CTNS). Cystinotic children develop subclinical then overt hypothyroidism. Why hypothyroidism is the most frequent and earliest endocrine complication of cystinosis is unknown. We here defined early alterations in Ctns(-/-) mice thyroid and identified subcellular and molecular mechanisms. At 9 months, T4 and T3 plasma levels were normal and TSH was moderately increased (∼4-fold). By histology, hyperplasia and hypertrophy of most follicles preceded colloid exhaustion. Increased immunolabelling for thyrocyte proliferation and apoptotic shedding indicated accelerated cell turnover. Electron microscopy revealed endoplasmic reticulum (ER) dilation, apical lamellipodia indicating macropinocytic colloid uptake, and lysosomal cystine crystals. Tg accumulation in dilated ER contrasted with mRNA down-regulation. Increased expression of ER chaperones, GRP78 and PDI, associated with alternative XBP-1 splicing, revealed unfolded protein response (UPR) activation by ER stress. Decreased Tg mRNA and ER stress suggested reduced Tg synthesis. Coordinated increase of UPR markers, ATF-4 and CHOP, linked ER stress to apoptosis. Hormonogenic cathepsins were not altered, but LAMP-1 immunolabelling disclosed enlarged vesicles containing iodo-Tg and impaired lysosomal fusion. Isopycnic fractionation showed iodo-Tg accumulation in denser lysosomes, suggesting defective lysosomal processing and hormone release. In conclusion, Ctns(-/-) mice show (i) compensated primary hypothyroidism and accelerated thyrocyte turnover; (ii) impaired Tg production linked to ER stress/UPR response; and (iii) altered endolysosomal trafficking and iodo-Tg processing. The Ctns(-/-) thyroid is useful to study disease progression and evaluate novel therapies.

Published
2015

36. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Barrter syndrome : evidence for genetic heterogeneity

Author

Károlyi, L., Konrad, M., Köckerling, A., Ziegler, A., Zimmermann, D.K., Roth, B., Wieg, C., Grzeschik, K.H., Koch, M.C., Seyberth, H.W., Vargas, R., Forestier, C., Jean, G., Deschaux, M., Rizzoni, G.F., Niaudet, P., Antignac, C., Feldmann, D., Lorridon, F., Cougoureux, E., Laroze, F., Alessandri, J.-L., David, L., Saunier, P., Deschenes, G., Hildebrandt, F., Vollmer, M., Proesmans, W., Brandis, M., Heuvel, L.P.W.J. van den, Lemmink, H.H., Nillesen, W., Monnens, L.A.H., Knoers, N.V.A.M., Guay-Woodford, L.M., Wright, C.J., Madrigal, G., and Hebert, S.C.

Subjects
Cultured, Ion Transport, Cells, Molecular, Molecular Probe Techniques, Hospitalized, Kidney, Kidney Function Tests, Urogenital Abnormalities (Non MeSH), Basement Membrane, Urethra, Urethral Diseases, Cell Adhesion, Kidney Diseases, Endothelium, Cloning, Molecular, Child, Gram-Negative Bacterial Infections, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Child, Hospitalized, Peritoneal Dialysis, Cells, Cultured, Cloning
Abstract

Contains fulltext : 24466___.PDF (Publisher’s version ) (Open Access)

Published
1997

37. Exome resequencing reveals ADCK4 mutations as novel causes of steroid-resistant nephrotic syndrome

Author

Ashraf, S., Gee, H. Y., Woerner, S., Xie, L. X., Vega Warner, V., Lovric, S., Fang, H., Song, X., Cattran, D., Avila Casado, C., Paterson, A. D., Nitschke, P., Cochat, C. Bole F. e. y. s. o. t. P., Esteve Rudd, J., Haberberger, B., Allen, S. J., Zhou, W., Airik, R., Otto, E. A., Barua, M., Al Hamed, M. H., Kari, J. A., Evans, J., Bierzynska, A., Saleem, M. A., Bockenhauer, D., Kleta, R., El Desoky, S., Hacihamdioglu, D. O., Gok, F., Wiggins, R. C., Lifton, M. C. h. o. i. R. P., Levy, S., Han, Z., Salviati, Leonardo, Prokisch, H., Williams, D. S., Pollak, M., Clarke, C. F., Pei, Y., Antignac, C., and Hildebrandt, F.

Published
2013

38. A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects

Author

Grampa, V, primary, Delous, M, additional, Silbermann, F, additional, Oyde, G, additional, Krug, P, additional, Filhol, E, additional, Alessandri, JL, additional, Sigaudy, S, additional, Bouvier, R, additional, Zabot, MT, additional, Antignac, C, additional, Gubler, M, additional, Attié-Bitach, T, additional, Benmerah, A, additional, Jeanpierre, C, additional, and Saunier, S, additional

Published
2015
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39. Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration

Author

Becker-Heck, A, primary, Bizet, A, additional, Ryan, R, additional, Krug, P, additional, Filhol, E, additional, Linghu, B, additional, Oakeley, E, additional, Serluca, F, additional, Legendre, F, additional, Dörner, N, additional, Lasbennes, MC, additional, Duca, J, additional, Yang, F, additional, Damask, A, additional, Klickstein, L, additional, Labow, M, additional, Schebesta, M, additional, Bouwmeester, T, additional, Valette, H, additional, Pinson, L, additional, Goubaux, B, additional, Dubot, P, additional, Salomon, R, additional, Antignac, C, additional, Gubler, M, additional, Jeanpierre, C, additional, Chibout, S, additional, Bole-Feysot, C, additional, Nitschké, P, additional, Benmerah, A, additional, Szustakowski, JD, additional, Sailer, AW, additional, Saunier, S, additional, and Saint-Mezard, P, additional

Published
2015
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40. CO-58 – Syndrome néphrotique congénital: une étude multicentrique française

Author

Berody, S., primary, Salomon, R., additional, Niaudet, P., additional, Heidet, L., additional, Baudouin, V., additional, Boudaillez, B., additional, de Parscau, L., additional, Dunand, O., additional, Flodrops, H., additional, Fila, M., additional, Garnier, A., additional, Harambat, J., additional, Louillet, F., additional, Merieau, E., additional, May, A., additional, Pietrement, C., additional, Rousset-Rouvière, C., additional, Rousset, G., additional, Tenenbaum, J., additional, Taque, S., additional, Ulinski, T., additional, Vieux, R., additional, Zaloszyc, A., additional, Antignac, C., additional, Baccheta, J., additional, Pierrepont, S., additional, Dehennault, M., additional, and Boyer, O., additional

Published
2015
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41. Nephropathic cystinosis: an international consensus document

Author

Emma, F., Nesterova, G., Langman, C., Labbe, A., Cherqui, S., Goodyer, P., Janssen, M.C., Greco, M., Topaloglu, R., Elenberg, E., Dohil, R., Trauner, D., Antignac, C., Cochat, P., Kaskel, F., Servais, A., Wuhl, E., Niaudet, P., Hoff, W. van 't, Gahl, W., Levtchenko, E.N., Emma, F., Nesterova, G., Langman, C., Labbe, A., Cherqui, S., Goodyer, P., Janssen, M.C., Greco, M., Topaloglu, R., Elenberg, E., Dohil, R., Trauner, D., Antignac, C., Cochat, P., Kaskel, F., Servais, A., Wuhl, E., Niaudet, P., Hoff, W. van 't, Gahl, W., and Levtchenko, E.N.

Abstract

Contains fulltext : 136370.pdf (publisher's version ) (Closed access), Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.

Published
2014

42. Clinical utility gene card for: cystinosis

Author

Levtchenko, E.N., Heuvel, L.P.W.J. van den, Emma, F., Antignac, C., Levtchenko, E.N., Heuvel, L.P.W.J. van den, Emma, F., and Antignac, C.

Abstract

Contains fulltext : 137646.pdf (publisher's version ) (Closed access)

Published
2014

45. Nephropathic cystinosis: an international consensus document

Author

Emma, F., primary, Nesterova, G., additional, Langman, C., additional, Labbe, A., additional, Cherqui, S., additional, Goodyer, P., additional, Janssen, M. C., additional, Greco, M., additional, Topaloglu, R., additional, Elenberg, E., additional, Dohil, R., additional, Trauner, D., additional, Antignac, C., additional, Cochat, P., additional, Kaskel, F., additional, Servais, A., additional, Wuhl, E., additional, Niaudet, P., additional, Van't Hoff, W., additional, Gahl, W., additional, and Levtchenko, E., additional

Published
2014
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46. 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

47. The ERA-EDTA Working Group on inherited kidney disorders.

Author

Devuyst, O., Antignac, C., Bindels, R.J.M., Chauveau, D., Emma, F., Gansevoort, R., Maxwell, P.H., Ong, A.C., Remuzzi, G., Ronco, P., Schaefer, F., Devuyst, O., Antignac, C., Bindels, R.J.M., Chauveau, D., Emma, F., Gansevoort, R., Maxwell, P.H., Ong, A.C., Remuzzi, G., Ronco, P., and Schaefer, F.

Abstract

1 januari 2012, Item does not contain fulltext

Published
2012

48. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Author

Chaki, M., Airik, R., Ghosh, A.K., Giles, R.H., Chen, R., Slaats, G.G., Wang, H, Hurd, T.W., Zhou, W., Cluckey, A., Gee, H.Y., Ramaswami, G., Hong, C.J., Hamilton, B.A., Cervenka, I., Ganji, R.S., Bryja, V., Arts, H.H., Reeuwijk, J. van, Oud, M.M., Letteboer, S.J., Roepman, R., Husson, H., Ibraghimov-Beskrovnaya, O., Yasunaga, T., Walz, G., Eley, L., Sayer, J.A., Schermer, B., Liebau, M.C., Benzing, T., Le Corre, S., Drummond, I., Janssen, S., Allen, S.J., Natarajan, S., O'Toole, J.F., Attanasio, M., Saunier, S., Antignac, C., Koenekoop, R.K., Ren, H., Lopez, I., Nayir, A., Stoetzel, C., Dollfus, H., Massoudi, R., Gleeson, J.G., Andreoli, S.P., Doherty, D.G., Lindstrad, A., Golzio, C., Katsanis, N., Pape, L., Abboud, E.B., Al-Rajhi, A.A., Lewis, R.A., Omran, H., Lee, E.Y., Wang, S., Sekiguchi, J.M., Saunders, R., Johnson, C.A., Garner, E., Vanselow, K., Andersen, J.S., Shlomai, J., Nurnberg, G., Nurnberg, P., Levy, S., Smogorzewska, A., Otto, E.A., Hildebrandt, F., Chaki, M., Airik, R., Ghosh, A.K., Giles, R.H., Chen, R., Slaats, G.G., Wang, H, Hurd, T.W., Zhou, W., Cluckey, A., Gee, H.Y., Ramaswami, G., Hong, C.J., Hamilton, B.A., Cervenka, I., Ganji, R.S., Bryja, V., Arts, H.H., Reeuwijk, J. van, Oud, M.M., Letteboer, S.J., Roepman, R., Husson, H., Ibraghimov-Beskrovnaya, O., Yasunaga, T., Walz, G., Eley, L., Sayer, J.A., Schermer, B., Liebau, M.C., Benzing, T., Le Corre, S., Drummond, I., Janssen, S., Allen, S.J., Natarajan, S., O'Toole, J.F., Attanasio, M., Saunier, S., Antignac, C., Koenekoop, R.K., Ren, H., Lopez, I., Nayir, A., Stoetzel, C., Dollfus, H., Massoudi, R., Gleeson, J.G., Andreoli, S.P., Doherty, D.G., Lindstrad, A., Golzio, C., Katsanis, N., Pape, L., Abboud, E.B., Al-Rajhi, A.A., Lewis, R.A., Omran, H., Lee, E.Y., Wang, S., Sekiguchi, J.M., Saunders, R., Johnson, C.A., Garner, E., Vanselow, K., Andersen, J.S., Shlomai, J., Nurnberg, G., Nurnberg, P., Levy, S., Smogorzewska, A., Otto, E.A., and Hildebrandt, F.

Abstract

Item does not contain fulltext, Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as "ciliopathies." However, disease mechanisms remain poorly understood. Here, we identify by whole-exome resequencing, mutations of MRE11, ZNF423, and CEP164 as causing NPHP-RC. All three genes function within the DNA damage response (DDR) pathway. We demonstrate that, upon induced DNA damage, the NPHP-RC proteins ZNF423, CEP164, and NPHP10 colocalize to nuclear foci positive for TIP60, known to activate ATM at sites of DNA damage. We show that knockdown of CEP164 or ZNF423 causes sensitivity to DNA damaging agents and that cep164 knockdown in zebrafish results in dysregulated DDR and an NPHP-RC phenotype. Our findings link degenerative diseases of the kidney and retina, disorders of increasing prevalence, to mechanisms of DDR.

Published
2012

49. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Author

Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A.A., Collins, F., Salih, M.A., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., Baudouin, V., Oud, M.M., Shannon, N., Le Merrer, M., Roche, O., Pietrement, C., Goumid, J., Baumann, C., Bole-Feysot, C., Nitschke, P., Zahrate, M., Beales, P., Arts, H.H., Munnich, A., Kaplan, J., Antignac, C., Cormier-Daire, V., Rozet, J.M., Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A.A., Collins, F., Salih, M.A., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., Baudouin, V., Oud, M.M., Shannon, N., Le Merrer, M., Roche, O., Pietrement, C., Goumid, J., Baumann, C., Bole-Feysot, C., Nitschke, P., Zahrate, M., Beales, P., Arts, H.H., Munnich, A., Kaplan, J., Antignac, C., Cormier-Daire, V., and Rozet, J.M.

Abstract

Item does not contain fulltext, Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.

Published
2012

50. Cellular and tissue mechanisms of the spatial and transcriptional heterogeneity of cystinotic lesions in Ctns-/- mice, and their correction by hematopoietic stem cell grafting

Author

UCL - SSS/DDUV - Institut de Duve, Gaide Chevronnay, Héloïse P., Janssens, V., Van Der Smissen, Patrick, Lac, Thanh, Harisson, F., Pierreux, Christophe, Antignac, C., Cherqui, S., Courtoy, Pierre J., 3d Cystinosis Research Foundation Symposium, UCL - SSS/DDUV - Institut de Duve, Gaide Chevronnay, Héloïse P., Janssens, V., Van Der Smissen, Patrick, Lac, Thanh, Harisson, F., Pierreux, Christophe, Antignac, C., Cherqui, S., Courtoy, Pierre J., and 3d Cystinosis Research Foundation Symposium

Published
2012

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