المؤلفون: Nicolaou, Nayia, Margadant, Coert, Kevelam, Sietske H, Lilien, Marc R, Oosterveld, Michiel J S, Kreft, Maaike, van Eerde, Albertien M, Pfundt, Rolph, Terhal, Paulien A, van der Zwaag, Bert, Nikkels, Peter G J, Sachs, Norman, Goldschmeding, Roel, Knoers, Nine V A M, Renkema, Kirsten Y, Sonnenberg, Arnoud

المصدر: Nicolaou , N , Margadant , C , Kevelam , S H , Lilien , M R , Oosterveld , M J S , Kreft , M , van Eerde , A M , Pfundt , R , Terhal , P A , van der Zwaag , B , Nikkels , P G J , Sachs , N , Goldschmeding , R , Knoers , N V A M , Renkema , K Y & Sonnenberg , A 2012 , ' Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome ' , The Journal of Clinical ....

مصطلحات موضوعية: Base Sequence, Cells, Cultured, Endoplasmic Reticulum/metabolism, Fatal Outcome, Female, Gene Expression, Genetic Association Studies, Glomerular Mesangium/metabolism, Glycosylation, Humans, Infant, Integrin alpha3/genetics, Integrin beta1/genetics, Lung Diseases, Interstitial/diagnosis, Models, Molecular, Nephrotic Syndrome/diagnosis, Pedigree, Podocytes/metabolism, Point Mutation, Proteasome Endopeptidase Complex/metabolism, Protein Multimerization, Protein Processing, Post-Translational/genetics, Proteolysis, Sequence Analysis, DNA, Tetraspanin 24/metabolism

العلاقة: https://research.rug.nl/en/publications/d0a79a4d-9ed4-4f6c-8d72-b0360b97e874Test

الإتاحة: https://doi.org/10.1172/JCI64100Test
https://hdl.handle.net/11370/d0a79a4d-9ed4-4f6c-8d72-b0360b97e874Test
https://research.rug.nl/en/publications/d0a79a4d-9ed4-4f6c-8d72-b0360b97e874Test

المؤلفون: van de Warrenburg, Bart P C, Sinke, Richard J, Kremer, Berry

المصدر: van de Warrenburg , B P C , Sinke , R J & Kremer , B 2005 , ' Recent advances in hereditary spinocerebellar ataxias ' , Journal of neuropathology and experimental neurology , vol. 64 , no. 3 , pp. 171-80 . < http://ovidsp.tx.ovid.com/sp-3.14.0b/ovidweb.cgi?QS2=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 >

مصطلحات موضوعية: Axonal Transport, Calcium Signaling, DNA Repair, Genes, Dominant, Recessive, Growth Substances, Humans, Mitochondria, Molecular Chaperones, Mutation, Proteasome Endopeptidase Complex, Protein Folding, Spinocerebellar Ataxias, Transcription, Genetic, Trinucleotide Repeats, Ubiquitin

العلاقة: https://research.rug.nl/en/publications/cd1e61cf-c65f-46e2-b133-7ae25322fc78Test

الإتاحة: https://hdl.handle.net/11370/cd1e61cf-c65f-46e2-b133-7ae25322fc78Test
https://research.rug.nl/en/publications/cd1e61cf-c65f-46e2-b133-7ae25322fc78Test
http://ovidsp.tx.ovid.com/sp-3.14.0b/ovidweb.cgi?QS2=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