نتائج البحث - "genomic disorders"

1

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan

المساهمون: Human genetics, Other Research, Klinische Genetica, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction, Public Health, Clinical Genetics

المصدر: Nature Genetics, 44, 581-5
Roscioli, T, Kamsteeg, E J, Buysse, K, Maystadt, I, van Reeuwijk, J, van den Elzen, C, van Beusekom, E, Riemersma, M, Pfundt, R, Vissers, L E L M, Schraders, M, Altunoglu, U, Buckley, M F, Brunner, H G, Grisart, B, Zhou, H Q, Veltman, J A, Gilissen, C, Mancini, G M S, Delree, P, Willemsen, M A, Ramadza, D P, Chitayat, D, Bennett, C, Sheridan, E, Peeters, E A J, Tan-Sindhunata, M B, de Die-Smulders, C E, Devriendt, K, Kayserili, H, El-Hashash, O A, Stemple, D L, Lefeber, D J, Lin, Y Y & van Bokhoven, H 2012, ' Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan ', Nature Genetics, vol. 44, no. 5, pp. 581-585 . https://doi.org/10.1038/ng.2253Test
Nature Genetics, 44(5), 581-585. Nature Publishing Group
Nature Genetics, 44(5), 581-+. Nature Publishing Group
Nature genetics
Nature Genetics, 44, 5, pp. 581-5
Nature Genetics; Vol 44

مصطلحات موضوعية: Embryo, Nonmammalian, Glycosylation, Genetics and epigenetic pathways of disease [NCMLS 6], Muscle Fibers, Skeletal, Walker-Warburg syndrome, O-glycosylation, ISPD gene, medicine.disease_cause, Eye, Mannosyltransferases, chemistry.chemical_compound, 0302 clinical medicine, Dystroglycans, Zebrafish, Genetics, 0303 health sciences, Mutation, Fukutin-related protein, biology, Brain, Walker-Warburg Syndrome, musculoskeletal system, Phenotype, Child, Preschool, Congenital muscular dystrophy, musculoskeletal diseases, animal structures, DCN MP - Plasticity and memory, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, medicine, Animals, Humans, Walker–Warburg syndrome, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Glycostation disorders [IGMD 4], medicine.disease, biology.organism_classification, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], chemistry, biology.protein, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e284bf358b33bcd86598fbcd6a329e8Test
https://hdl.handle.net/2066/108772Test

2

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

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

المساهمون: Laboratory Medicine, ICaR - Ischemia and repair

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 643-51
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812(6), 643-651. Elsevier
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease
Wilmer, M J, Kluijtmans, L A J, van der Velden, T J, Willems, P H, Scheffer, P G, Masereeuw, R, Monnens, L A, van den Heuvel, L P & Levtchenko, E N 2011, ' Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells ', Biochimica et Biophysica Acta. Molecular Basis of Disease, vol. 1812, no. 6, pp. 643-651 . https://doi.org/10.1016/j.bbadis.2011.02.010Test
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 6, pp. 643-51
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease; Vol 1812

مصطلحات موضوعية: Male, Cystinosis, 030232 urology & nephrology, medicine.disease_cause, Kidney Tubules, Proximal, chemistry.chemical_compound, 0302 clinical medicine, Adenosine Triphosphate, Child, Cells, Cultured, Renal disorder [IGMD 9], 0303 health sciences, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Functional imaging [IGMD 1], Glutathione, 3. Good health, Renal disorder Membrane transport and intracellular motility [IGMD 9], ATP production, Redox status, Cystinosin, Child, Preschool, Molecular Medicine, Female, Oxidation-Reduction, medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Energy and redox metabolism [NCMLS 4], Adolescent, Cysteamine, Cystine, Renal disorder Energy and redox metabolism [IGMD 9], End stage renal disease, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Nephropathic Cystinosis, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, Cell Proliferation, Infant, Epithelial Cells, medicine.disease, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, chemistry, Oxidative stress, Reactive Oxygen Species

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0affcf2f136725a5944fb82906ded065Test

3

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

المؤلفون: Alice Janssen, Lambertus P. van den Heuvel, Maïlys Guillard, Eva Morava, Nina Ondruskova, Hana Hansikova, Jiri Zeman, Machiko Kadoya, Isao Yuasa, Katerina Vesela, Ron A. Wevers, Yoshinao Wada, Dirk J. Lefeber

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 901-6
Journal of Inherited Metabolic Disease, 34, 901-6

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Peptide, Neuroinformatics [DCN 3], CDG - an update, medicine.disease_cause, Renal disorder Energy and redox metabolism [IGMD 9], Models, Biological, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Congenital Disorders of Glycosylation, Catalytic Domain, Genetics, medicine, Humans, Genetics(clinical), Child, Genetics (clinical), chemistry.chemical_classification, Mutation, biology, Isoelectric focusing, Transferrin, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], Molecular biology, Human genetics, Renal disorder Membrane transport and intracellular motility [IGMD 9], Isoelectric point, chemistry, Biochemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, biology.protein, Isoelectric Focusing, Perception and Action Glycostation disorders [DCN 1], Protein Processing, Post-Translational, Neuraminidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f7dcbabbbc3a6412ee94b427ea67e89Test
https://doi.org/10.1007/s10545-011-9311-yTest

4

Sequence variants at CYP1A1–CYP1A2 and AHR associate with coffee consumption

المصدر: Human Molecular Genetics
Human Molecular Genetics, 20, 2071-7
Human Molecular Genetics, 20, 10, pp. 2071-7

مصطلحات موضوعية: Male, Genome-wide association study, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Coffee, chemistry.chemical_compound, 0302 clinical medicine, Association Studies Article, Promoter Regions, Genetic, Genetics (clinical), Genetics, 0303 health sciences, education.field_of_study, biology, General Medicine, Middle Aged, 3. Good health, Female, Caffeine, Functional Neurogenomics [DCN 2], Adult, Population, Drinking Behavior, Single-nucleotide polymorphism, Models, Biological, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular epidemiology [NCEBP 1], 03 medical and health sciences, Sex Factors, Cytochrome P-450 CYP1A2, Cytochrome P-450 CYP1A1, Humans, education, Molecular Biology, Alleles, Molecular epidemiology Aetiology, screening and detection [NCEBP 1], Aged, 030304 developmental biology, Genetic association, Chromosomes, Human, Pair 15, Hormonal regulation [IGMD 6], CYP1A2, Genetic Variation, Heritability, Aryl hydrocarbon receptor, Receptors, Aryl Hydrocarbon, chemistry, biology.protein, 030217 neurology & neurosurgery, Genome-Wide Association Study

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76c0957e178cea624a096b7abf1f49e7Test
https://doi.org/10.1093/hmg/ddr086Test

5

Reliable laboratory urinalysis results using a new standardised urine collection device

المؤلفون: Michiel F. Schreuder, Myriam A.M.A. Roelofs-Thijssen, Antonius E. van Herwaarden, Marije Hogeveen

المصدر: Clinical Biochemistry, 46, 13-14, pp. 1252-6
Clinical Biochemistry, 46, 1252-6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7e3d058d5b11bfcc5634f94855d7bfTest
https://doi.org/10.1016/j.clinbiochem.2013.04.014Test

6

Copper Deficiency in Patients with Cystinosis with Cysteamine Toxicity

المؤلفون: Sofie Symoens, Marcella Greco, Francesco Emma, François Nobili, Koen Desmet, Elisabeth A.M. Cornelissen, Lambertus van den Heuvel, Elena Levtchenko, Fransiska Malfait, Marc R. Lilien, Jerry A. Schneider, Anne De Paepe, Mirian C. H. Janssen, Flemming Skovby, Martine T.P. Besouw

المساهمون: Faculteit Medische Wetenschappen/UMCG

المصدر: Journal of Pediatrics, 163, 3, pp. 754-60
Journal of Pediatrics, 163, 754-60
Journal of Pediatrics, 163(3), 754-760. MOSBY-ELSEVIER

مصطلحات موضوعية: Male, CROSS-LINKING, Cystinosis, PENICILLAMINE, Renal Agents, THERAPY, NEPHROPATHIC CYSTINOSIS, DISEASE, Protein-Lysine 6-Oxidase, chemistry.chemical_compound, HUMAN NEUROLATHYRISM, LYSYL OXIDASE, Child, Cation Transport Proteins, Copper Transporter 1, Renal disorder [IGMD 9], Adenosine Triphosphatases, biology, Ceruloplasmin, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Renal disorder Membrane transport and intracellular motility [IGMD 9], Child, Preschool, Toxicity, Female, Collagen, Adult, Genetic Markers, medicine.medical_specialty, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Cysteamine, Lysyl oxidase, METABOLISM, Protective Agents, Renal disorder Energy and redox metabolism [IGMD 9], Collagen Type I, Young Adult, Nephropathic Cystinosis, Internal medicine, medicine, Humans, Health aging / healthy living Cardiovascular diseases [IGMD 5], Polymorphism, Genetic, business.industry, Fanconi syndrome, ADULTS, Sequence Analysis, DNA, Fanconi Syndrome, medicine.disease, Collagen Type I, alpha 1 Chain, Endocrinology, chemistry, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, biology.protein, business, Copper deficiency, Biomarkers, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2f3195e7aa10589c5bb81c66fd265beTest
https://doi.org/10.1016/j.jpeds.2013.03.078Test

7

Cysteamine

المؤلفون: Lambert P. van den Heuvel, Martine T.P. Besouw, Rosalinde Masereeuw, Elena Levtchenko

المصدر: Drug Discovery Today, 18, 15-16, pp. 785-92
Drug Discovery Today, 18, 785-92

مصطلحات موضوعية: Drug, medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], media_common.quotation_subject, Cysteamine, Cystine, Radiation-Protective Agents, CHILDREN, Pharmacology, Renal disorder Energy and redox metabolism [IGMD 9], THERAPY, NEPHROPATHIC CYSTINOSIS, TOXICITY, chemistry.chemical_compound, In vivo, Cystamine, Nephropathic Cystinosis, Non-alcoholic Fatty Liver Disease, Internal medicine, Drug Discovery, Nonalcoholic fatty liver disease, medicine, Animals, Humans, media_common, Randomized Controlled Trials as Topic, FATTY LIVER-DISEASE, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Neurodegenerative Diseases, medicine.disease, CYSTAMINE, Fatty Liver, Renal disorder Membrane transport and intracellular motility [IGMD 9], Endocrinology, Membrane transport and intracellular motility Renal disorder [NCMLS 5], BDNF, chemistry, Cystinosis, HUNTINGTONS-DISEASE, GROWTH, INDUCED LUPUS

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::143445caa02077fa283fe8446287fc4bTest
https://doi.org/10.1016/j.drudis.2013.02.003Test

8

Specific sphingolipid content decrease in Cerkl knockdown mouse retinas

المؤلفون: Gemma Marfany, Josefina Casas, Meritxell Egido-Gabás, Robert E. Anderson, Alejandro Garanto, Nawajes A. Mandal, Roser Gonzàlez-Duarte, Gemma Fabriàs

المصدر: EXPERIMENTAL EYE RESEARCH
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Experimental Eye Research, 110, May, pp. 96-106
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Experimental Eye Research, 110, 96-106

مصطلحات موضوعية: Spectrometry, Mass, Electrospray Ionization, Ceramide, Cellular homeostasis, Biology, Ceramides, Real-Time Polymerase Chain Reaction, Transfection, Article, Glycosphingolipids, Retina, Mice, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Sphingosine, Membrane fluidity, Animals, Humans, Chromatography, High Pressure Liquid, Phospholipids, Mice, Knockout, Sphingolipids, Kinase, Retinal, Lipid Metabolism, Sphingolipid, Sensory Systems, Sphingomyelins, Mice, Inbred C57BL, carbohydrates (lipids), Phosphotransferases (Alcohol Group Acceptor), Ophthalmology, HEK293 Cells, chemistry, Protein kinase domain, Biochemistry, RNA, lipids (amino acids, peptides, and proteins), sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Sphingomyelin, Retinitis Pigmentosa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ecbb328cd63095e99e4a566748616b3Test
https://doi.org/10.1016/j.exer.2013.03.003Test

9

Uremic toxins inhibit renal metabolic capacity through interference with glucuronidation and mitochondrial respiration

المؤلفون: Henricus A. M. Mutsaers, Jitske Jansen, L.P.W.J. van den Heuvel, Raymond Vanholder, Martijn J. Wilmer, Eva Schepers, Marleen Forkink, P.H.H. van den Broek, Griet Glorieux, Rosalinde Masereeuw, Joost G. J. Hoenderop, Dorien Reijnders

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1832, 1, pp. 142-50
Mutsaers, H A M, Wilmer, M J G, Reijnders, D, Jansen, J, van den Broek, P H H, Forkink, M, Schepers, E, Glorieux, G, Vanholder, R, van den Heuvel, L P, Hoenderop, J G & Masereeuw, R 2013, ' Uremic toxins inhibit renal metabolic capacity through interference with glucuronidation and mitochondrial respiration ', Biochimica et Biophysica Acta-Molecular Basis of Disease, vol. 1832, no. 1, pp. 142-150 . https://doi.org/10.1016/j.bbadis.2012.09.006Test
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1832, 142-50

مصطلحات موضوعية: medicine.medical_specialty, Glucuronosyltransferase, Organic anion transporter 1, Drug-Related Side Effects and Adverse Reactions, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Energy and redox metabolism [NCMLS 4], Glucuronidation, Uremic toxins, Oxidative phosphorylation, Kidney, Renal disorder Energy and redox metabolism [IGMD 9], Cell Line, Electron Transport, Cresols, Internal medicine, Chronic kidney disease, medicine, Humans, Umbelliferones, Molecular Biology, Uremia, Renal disorder [IGMD 9], Drug metabolism, biology, Cardiovascular diseases [NCEBP 14], Chemistry, Kidney metabolism, Mitochondrial medicine Energy and redox metabolism [IGMD 8], medicine.disease, Mitochondria, Succinate Dehydrogenase, Renal disorder Membrane transport and intracellular motility [IGMD 9], Endocrinology, medicine.anatomical_structure, Mitochondrial medicine [IGMD 8], Membrane transport and intracellular motility Renal disorder [NCMLS 5], Pharmaceutical Preparations, biology.protein, Molecular Medicine, UDP-glucuronosyltransferases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8c1c4d480cac224ea4af124b773414Test

10

Heparinized collagen scaffolds with and without growth factors for the repair of diaphragmatic hernia: construction and in vivo evaluation

المؤلفون: Daphne Reijnen, Theo Hafmans, Willeke F. Daamen, Toin H. van Kuppevelt, Rene M. H. Wijnen, Katrien M. Brouwer

المصدر: Organogenesis, 9, 3, pp. 161-7
Organogenesis, 9, 161-7

مصطلحات موضوعية: Male, Embryology, Scaffold, Pathology, medicine.medical_specialty, medicine.medical_treatment, Diaphragm, Biomedical Engineering, Neovascularization, Physiologic, CDL NWP Medewerkers - vallen niet onder een onderzoeksinstituut, Glycosaminoglycan, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, medicine, Animals, Diaphragmatic hernia, Rats, Wistar, Hernia, Diaphragmatic, Transplantation, Tissue Scaffolds, Chemistry, Guided Tissue Regeneration, Heparin, Growth factor, Congenital diaphragmatic hernia, Anatomy, medicine.disease, Tissue engineering and pathology [NCMLS 3], Rats, Vascular endothelial growth factor, Disease Models, Animal, Intercellular Signaling Peptides and Proteins, Hepatocyte growth factor, Collagen, Developmental Biology, medicine.drug, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::948fb033f830202f2ba317b06ecc3310Test
https://hdl.handle.net/2066/125968Test

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