Blar i forfatter "Brox, Vigdis"
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Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction
Alhamidi, Maisoon; Kjeldsen, Elisabeth; Fagerheim, Toril; Brox, Vigdis; Lindal, Sigurd; Van Ghelue, Marijke; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2011)Limb-Girdle Muscular Dystrophy type 2I (LGMD2I) is an inheritable autosomal, recessive disorder caused by mutations in the FuKutin-Related Protein (FKRP) gene (FKRP) located on chromosome 19 (19q13.3). Mutations in FKRP are also associated with Congenital Muscular Dystrophy (MDC1C), Walker-Warburg Syndrome (WWS) and Muscle Eye Brain disease (MEB). These four disorders share in common an incomplete/aberrant ... -
Intensity Dependent Confidence Intervals on Microarray Measurements of Differentially Expressed Genes : A Case Study of the Effect of MK5, FKRP and TAF4 on the Transcriptome
Jakobsen, Kirsti; Van, Belle Werner; Gerits, Nancy; Brox, Vigdis; Van Ghelue, Marijke; Moens, Ugo (Journal article; Tidsskriftartikkel; Peer reviewed, 2007) -
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation
Alhamidi, Maisoon; Brox, Vigdis; Stensland, Eva; Liset, Merete; Lindal, Sigurd; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2017-07)<p>Limb girdle muscular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP). LGMD2I displays clinical heterogeneity with onset of severe symptoms in early childhood to mild calf and thigh hypertrophy in the second or third decade. Patients homozygous for the common FKRP mutation c.826C>A (p.Leu276Ile) show phenotypes within the milder ... -
Usher syndrome in Denmark: mutation Spectrum and some clinical observations
Dad, Sheena; Dahl Rendtorff, Nanna; Tranebjærg, Lisbeth; Grønskov, Karen; Gasdal Karstensen, Helena; Brox, Vigdis; Nilssen, Øivind; Roux, Anne-Francoise; Rosenberg, Thomas; Jensen, Hanne; Birk Møller, Lisbeth (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-05-12)Background:<br> Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3.<br> Methods:<br> Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods.<br> Results:<br> Before Next Generation Sequencing (NGS) became available ...