Research Topics
Genomes and Genes | Rinse KloosterSummaryAffiliation: Leiden University Medical Center Country: The Netherlands Publications
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Detail Information
Publications
Selection of VHH antibody fragments that recognize different Aβ depositions using complex immune librariesRinse Klooster
Department of Human and Clinical Genetics, Medical Genetics Center, Leiden University Medical Center, Leiden, The Netherlands
Methods Mol Biol 911:241-53. 2012..We show that this can result in binders that preferentially recognize the target of interest when present in specific structures depending on the antigen source...
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein levelRinse Klooster
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Eur J Hum Genet 17:1615-24. 2009..The one exception was a selective increase in FRG2 mRNA expression in FSHD myotubes. This study provides further evidence that there is no demonstrable consistent, large magnitude, overexpression of any of the FSHD candidate genes...
Self-regulated alternative splicing at the AHNAK locusAntoine de Morrée
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
FASEB J 26:93-103. 2012..A small 17-kDa isoform of Periaxin similarly traffics between the cytoplasm and the nucleus to regulate mRNA splicing. Thus, AHNAK constitutes a novel mechanism in post-transcriptional control of gene expression...
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2Richard J L F Lemmers
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Nat Genet 44:1370-4. 2012..Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation...
Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 proteinVered Raz
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Am J Pathol 179:1988-2000. 2011..We suggest that this difference can contribute to muscle weakness in OPMD...
Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in miceRinse Klooster
Department of Human Genetics, Medical Genetics Centre, Leiden University Medical Centre, Leiden, The Netherlands
Brain 135:1081-101. 2012....
