المؤلفون: Diana M Iglesias, Reyhan El-Kares, Anna Taranta, Francesco Bellomo, Francesco Emma, Martine Besouw, Elena Levtchenko, Jaan Toelen, Lambertus van den Heuvel, Leelee Chu, Jing Zhao, Yoon Kow Young, Nicoletta Eliopoulos, Paul Goodyer

المصدر: PLoS ONE, Vol 7, Iss 8, p e42840 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22912749/pdf/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/353a18b5afee4d52adc1fd7c0dda280d

المؤلفون: Robin Loesch, Emma J. Brasell, Reyhan El Kares, Paul Goodyer, LeeLee Chu, Diana M. Iglesias, Jung Hwa Seo

المصدر: Pediatric nephrology (Berlin, Germany). 34(5)

مصطلحات موضوعية: viruses, Nonsense mutation, Cystinosis, Genetic Vectors, 030232 urology & nephrology, 030204 cardiovascular system & hematology, Transfection, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Nephropathic Cystinosis, Medicine, Humans, RNA, Messenger, business.industry, Translational readthrough, Fibroblasts, Peptide Chain Termination, Translational, medicine.disease, Recombinant Proteins, 3. Good health, Transplantation, Amino Acid Transport Systems, Neutral, HEK293 Cells, Cystinosin, chemistry, Nephrology, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Cancer research, Cystine, Cysteamine, Gentamicins, business, Plasmids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1193d62ecdb0c1a7f65d0389a8852912
https://pubmed.ncbi.nlm.nih.gov/30623245

المؤلفون: Elena Torban, Martin Bitzan, Yulia Zilber, Chantale Bernard, Reyhan El Kares, Sima Babayeva, Michelle Miller, Paul Goodyer

المصدر: Pediatric Nephrology. 26:1071-1081

مصطلحات موضوعية: medicine.medical_specialty, Myosin Light Chains, Time Factors, Myosin light-chain kinase, Adolescent, Apoptosis, urologic and male genital diseases, Cell Line, Podocyte, Nephrin, Focal segmental glomerulosclerosis, Recurrence, Stress Fibers, Internal medicine, medicine, Humans, Phosphorylation, Child, Cell Size, Myosin Heavy Chains, biology, Glomerulosclerosis, Focal Segmental, Podocytes, urogenital system, business.industry, Molecular Motor Proteins, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Glomerulosclerosis, Plasmapheresis, medicine.disease, Kidney Transplantation, female genital diseases and pregnancy complications, Transplantation, Protein Transport, Proteinuria, Treatment Outcome, Endocrinology, medicine.anatomical_structure, Nephrology, Pediatrics, Perinatology and Child Health, biology.protein, Podocin, Slit diaphragm, Kidney Failure, Chronic, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de600ca66162f64ce12bfcff8331f9cf
https://doi.org/10.1007/s00467-011-1831-z

المؤلفون: Lajmi Lakhal-Chaieb, Daniel C Manolescu, Pangala V. Bhat, Paul Goodyer, Alexandre Montpetit, Reyhan El-Kares

المصدر: Pediatric Research. 67:598-602

مصطلحات موضوعية: Male, medicine.medical_specialty, Receptor complex, Genotype, Receptors, Retinoic Acid, Retinoic acid, Tretinoin, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Aldehyde Dehydrogenase 1 Family, White People, ALDH1A2, chemistry.chemical_compound, Gene Frequency, Internal medicine, Gene expression, medicine, Humans, Allele, Vitamin A, Chi-Square Distribution, Homozygote, Infant, Newborn, Quebec, Retinol, Retinal Dehydrogenase, Fetal Blood, Phenotype, Endocrinology, chemistry, Pediatrics, Perinatology and Child Health, Female, Umbilical Cord Serum

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef801332286292b56e82daec38a729ad
https://doi.org/10.1203/pdr.0b013e3181dcf18a

المؤلفون: Pierre-Alain Hueber, Shujie He, LeeLee Chu, Ryuji Fukuzawa, Miriam Blumentkrantz, Michael R. Eccles, Matthew Anaka, Paul Goodyer, Anthony E. Reeve, Nada Jabado, Reyhan El-Kares, Diana M. Iglesias

المصدر: Pediatric and Developmental Pathology. 12:347-354

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Stromal cell, Mesenchyme, Blotting, Western, PAX3, Gene Expression, Cell fate determination, Biology, Kidney, Polymerase Chain Reaction, Wilms Tumor, Pathology and Forensic Medicine, Mesoderm, Mice, Cell Line, Tumor, medicine, Animals, Humans, Paired Box Transcription Factors, RNA, Small Interfering, PAX3 Transcription Factor, fungi, HEK 293 cells, Gene Expression Regulation, Developmental, Cell Differentiation, Mesenchymal Stem Cells, Cell migration, Wilms' tumor, General Medicine, musculoskeletal system, medicine.disease, Immunohistochemistry, Embryonic stem cell, Kidney Neoplasms, Extracellular Matrix, Gene Expression Regulation, Neoplastic, Phenotype, medicine.anatomical_structure, embryonic structures, Pediatrics, Perinatology and Child Health, Cancer research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::483840dd9ada4b79457febea88b1bb67
https://doi.org/10.2350/08-05-0466.1

المؤلفون: Nicoletta Eliopoulos, Reyhan El-Kares, Jing Zhao, Yoon Kow Young, Martine T.P. Besouw, Jaan Toelen, Francesco Emma, Anna Taranta, Lambertus P. van den Heuvel, LeeLee Chu, Francesco Bellomo, Elena Levtchenko, Paul Goodyer, Diana M. Iglesias

المساهمون: Faculteit Medische Wetenschappen/UMCG, Borlongan, Cesario V

المصدر: PLoS One, 7
PLoS ONE
PLoS ONE, 7(8):42840. PUBLIC LIBRARY SCIENCE
PLoS One, 7, 8
PLoS ONE, Vol 7, Iss 8, p e42840 (2012)

مصطلحات موضوعية: medicine.medical_treatment, Cystinosis, COMMUNICATION, Exosomes, CYSTEAMINE, NEPHROPATHIC CYSTINOSIS, Mice, Molecular Cell Biology, Multidisciplinary, Mesenchymal Stromal Cells, Pediatric Nephrology, Microvesicle, Stem Cells, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Stem-cell therapy, Genomics, Gene Therapy, LEUKOCYTES, Cell biology, Renal disorder Membrane transport and intracellular motility [IGMD 9], Protein Transport, Cystinosin, Nephrology, Medicine, Cystine, KIDNEY INJURY, Membranes and Sorting, Stem cell, Cellular Types, Research Article, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Science, Bone Marrow Cells, Biology, Mesenchymal Stem Cell Transplantation, Renal disorder Energy and redox metabolism [IGMD 9], Genomic Medicine, Nephropathic Cystinosis, DIMETHYL ESTER, medicine, Animals, Humans, RNA, Messenger, IDENTIFICATION, TRANSPLANTATION, Mesenchymal stem cell, Mesenchymal Stem Cells, Fibroblasts, medicine.disease, Microvesicles, Amino Acid Transport Systems, Neutral, Metabolic Disorders, Mutation, MEDIATORS, Lysosomes

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a69d18b90aeb57290f7667ab600a1390
http://hdl.handle.net/2066/109597

المؤلفون: LeeLee Chu, Diana M. Iglesias, Paola Romagnani, Nicoletta Eliopoulos, Reyhan El Kares, Zhao Zhang, Paul Goodyer

المصدر: Human molecular genetics. 20(21)

مصطلحات موضوعية: Adult, Heterozygote, Molecular Sequence Data, Nephron, Cell Separation, Biology, Protein Serine-Threonine Kinases, Kidney, Wilms Tumor, Umbilical Cord, Mice, Genetics, medicine, Animals, Humans, RNA, Messenger, Allele, Progenitor cell, Cystatin C, Molecular Biology, Genetics (clinical), Alleles, In Situ Hybridization, Base Sequence, urogenital system, Infant, Newborn, Gene Expression Regulation, Developmental, Mesenchymal Stem Cells, General Medicine, Organ Size, Molecular biology, medicine.anatomical_structure, Animals, Newborn, Cord blood, Ureteric bud, Mutation, biology.protein, Nucleic Acid Conformation, Stem cell, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7334845002ff0440630f1a12a186da6
https://pubmed.ncbi.nlm.nih.gov/21821672

المؤلفون: Reyhan El-Kares, Paul Goodyer, François Mathieu, Julian P. Midgley

المصدر: Pediatric nephrology (Berlin, Germany). 26(8)

مصطلحات موضوعية: Proband, Male, medicine.medical_specialty, Pediatrics, Adolescent, Cysteamine, Cystinosis, Radiation-Protective Agents, chemistry.chemical_compound, Tubulopathy, Nephropathic Cystinosis, Internal medicine, Medicine, Humans, Age of Onset, Child, Base Sequence, business.industry, Exons, Middle Aged, medicine.disease, Kidney Transplantation, Pedigree, Transplantation, Endocrinology, Amino Acid Transport Systems, Neutral, Cystinosin, chemistry, Nephrology, Pediatrics, Perinatology and Child Health, Age of onset, business, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79e20f27f0855f7fb10e96f1b5a0ca53
https://pubmed.ncbi.nlm.nih.gov/21553323

المؤلفون: Daniel G. Bichet, Pierre-Alain Hueber, Kim Ma, Diana M. Iglesias, Reyhan El-Kares, Nada Jabado, Paul Goodyer, Miriam Blumenkrantz

المصدر: Pediatric nephrology (Berlin, Germany). 24(7)

مصطلحات موضوعية: Male, medicine.medical_specialty, Receptors, Vasopressin, Genes, Wilms Tumor, DNA Mutational Analysis, Mutation, Missense, Diabetes Insipidus, Nephrogenic, medicine.disease_cause, Wilms Tumor, Exon, Polyuria, Arginine vasopressin receptor 2, Internal medicine, medicine, Missense mutation, Humans, beta Catenin, Chromosome Aberrations, Mutation, Base Sequence, business.industry, Reverse Transcriptase Polymerase Chain Reaction, Infant, Wilms' tumor, Genetic Diseases, X-Linked, Nephrogenic diabetes insipidus, medicine.disease, Immunohistochemistry, Kidney Neoplasms, Endocrinology, Nephrology, Aquaporin 2, Pediatrics, Perinatology and Child Health, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f90bccd17e081a76ca77923b5785c768
https://pubmed.ncbi.nlm.nih.gov/19294427

المؤلفون: Zhao Zhang, Alexandre Montpetit, Paul Goodyer, Reyhan El Kares, Daniel C. Manolescu, Lajmi Lakhal-Chaieb, Pangala V. Bhat

المصدر: Kidney International. (1):96-102

مصطلحات موضوعية: Nephrology, medicine.medical_specialty, Genotype, Organogenesis, Retinoic acid, Kidney development, Tretinoin, Nephron, Biology, genetics and development, Kidney, Proto-Oncogene Mas, vitamin A, ALDH1A2, Retinoids, chemistry.chemical_compound, CYP26A1, Cytochrome P-450 Enzyme System, pediatric nephrology, Internal medicine, Proto-Oncogenes, kidney volume, medicine, Humans, Developing Countries, Alleles, kidney development, Vitamin A Deficiency, Infant, Newborn, Retinol, Infant, Nephrons, Retinoic Acid 4-Hydroxylase, medicine.anatomical_structure, Endocrinology, chemistry, embryonic structures, Kidney Diseases, Oxidoreductases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1b9a267db4f1e0b6cc4318e1f6a9aab