Blar i forfatter "Van Ghelue, Marijke"

Viser treff 1-14 av 14

    • ABCC9-related intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9 

      Smeland, Marie Falkenberg; McClenaghan, Conor; Roessler, Helen I.; Savelberg, Sanne; Hansen, Geir Åsmund Myge; Hjellnes, Helene; Arntzen, Kjell Arne; Müller, Kai Ivar; Dybesland, Andreas R.; Harter, Theresa; Sala-Rabanal, Monica; Emfinger, Chris H.; Huang, Yan; Singareddy, Soma S.; Gunn, Jamie; Wozniak, David F.; Kovacs, Attila; Massink, Maarten; Tessadori, Federico; Kamel, Sarah M.; Bakkers, Jeroen; Remedi, Maria S.; Van Ghelue, Marijke; Nichols, Colin G.; van Haaften, Gijs (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-10-01)
      Mutations in genes encoding K<sub>ATP</sub> channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are ...

    • Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort 

      Jarhelle, Elisabeth; Stensland, Hilde Monica Frostad Riise; Mæhle, Lovise Olaug; Van Ghelue, Marijke (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-08-05)
      Germline mutations in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Molecular screening of these two genes in patients with a family history of breast or ovarian cancer has revealed pathogenic variants as well as genetic variants of unknown significance (VUS). These VUS may cause a challenge in the genetic counseling process regarding clinical management of the patient and the family. ...

    • Detection of quebec polyomavirus dna in samples from different patient groups 

      Prezioso, Carla; Van Ghelue, Marijke; Pietropaolo, Valeria; Moens, Ugo (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-05-18)
      Polyomaviruses infect many species, including humans. So far, 15 polyomaviruses have been described in humans, but it remains to be established whether all of these are genuine human polyomaviruses. The most recent polyomavirus to be detected in a person is Quebec polyomavirus (QPyV), which was identified in a metagenomic analysis of a stool sample from an 85-year-old hospitalized man. We used PCR ...

    • Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020) 

      Jensen, Synnøve; Müller, Kai Ivar; Mellgren, Svein Ivar; Bindoff, Laurence Albert; Rasmussen, Magnhild; Ørstavik, Kristin; Jonsrud, Christoffer; Tveten, Kristian; Nilssen, Øivind; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-11-25)
      We aimed to investigate the epidemiology and natural history of FKRP-related limb-girdle muscular dystrophy R9 (LGMDR9) in Norway. We identified 153 genetically confirmed subjects making the overall prevalence 2.84/100,000, the highest reported figure worldwide. Of the 153 subjects, 134 (88 %) were homozygous for FKRP c.826C>A giving a carrier frequency for this variant of 1/101 in Norway. Clinical ...

    • Fetal sex determination in twin pregnancies using non-invasive prenatal testing 

      Villela, Darine; Che, Huiwen; Van Ghelue, Marijke; Dehaspe, Luc; Brison, Nathalie; Van Den Bogaert, Kris; Devriendt, Koen; Lewi, Liesbeth; Bayindir, Baran; Vermeesch, Joris Robert (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-07-04)
      Non-invasive prenatal testing (NIPT) is accurate for fetal sex determination in singleton pregnancies, but its accuracy is not well established in twin pregnancies. Here, we present an accurate sex prediction model to discriminate fetal sex in both dichorionic diamniotic (DCDA) and monochorionic diamniotic/monochorionic monoamniotic (MCDA/MCMA) twin pregnancies. A retrospective analysis was performed ...

    • 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 ...

    • Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions 

      Hovland, Henrikke Nilsen; Mchaina, Eunice Kabanyana; Vetti, Hildegunn Høberg; Ariansen, Sarah Louise; Sjursen, Wenche; Van Ghelue, Marijke; Haukanes, Bjørn Ivar; Knappskog, Per Morten; Aukrust, Ingvild; Berge, Elisabet Ognedal (Journal article; Tidsskriftartikkel; Peer reviewed, 2023-01-19)
      : The BRCA1 protein is implicated in numerous important cellular processes to prevent genomic instability and tumorigenesis, and pathogenic germline variants predispose carriers to hereditary breast and ovarian cancer (HBOC). Most functional studies of missense variants in BRCA1 focus on variants located within the Really Interesting New Gene (RING), coiled-coil and BRCA1 C-terminal (BRCT) ...

    • HPyV6 and HPyV7 in urine from immunocompromised patients 

      Prezioso, Carla; Van Ghelue, Marijke; Moens, Ugo; Pietropaolo, Valeria (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-01-22)
      Background - Human polyomavirus 6 (HPyV6) and HPyV7 are two of the novel polyomaviruses that were originally detected in non-diseased skin. Serological studies have shown that these viruses are ubiquitous in the healthy adult population with seroprevalence up to 88% for HPyV6 and 72% for HPyV7. Both viruses are associated with pruritic skin eruption in immunocompromised patients, but a role with ...

    • Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients 

      Jarhelle, Elisabeth; Stensland, Hilde Monica Frostad Riise; Hansen, Geir Åsmund Myge; Skarsfjord, Siri; Jonsrud, Christoffer; Ingebrigtsen, Monica; Strømsvik, Nina; Van Ghelue, Marijke (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-12-27)
      Families with breast and ovarian cancer are often tested for disease associated sequence variants in <i>BRCA1</i> and <i>BRCA2</i>. Pathogenic sequence variants (PVs) in these two genes are known to increase breast and ovarian cancer risks in females. However, in most families no PVs are detected in these two genes. Currently, several studies have identified other genes involved in hereditary breast ...

    • Increased levels of BAFF in patients with Systemic Lupus Erythematosus are associated with acute phase reactants, independent of BAFF genetics: a case control study 

      Eilertsen, Gro Østli; Van Ghelue, Marijke; Nossent, Johannes C (Journal article; Tidsskriftartikkel, 2011)
      Objectives. To determine whether increased levels of B-cell activating factor (BAFF) in patients with SLE are due to disease activity or genetic variations in the promoter region of the BAFF gene and BAFF gene expression. Methods. The case-control study included 101 SLE patients and 111 healthy controls. Five single nucleotide polymorphisms (SNPs) in the BAFF promoter region were investigated by ...

    • 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)

    • Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene 

      Müller, Kai Ivar; Nilssen, Øivind; Nebuchenykh, Maria; Løseth, Sissel; Jonsrud, Christoffer; Hoem, Gry; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-10-19)
      We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causing Kennedy disease. Two sisters inherited CAG expansions from their mother who was a carrier and their father who had Kennedy disease. Genetic testing revealed alleles comprising 43/45, and 43/43 CAG repeats in the younger and older sister, respectively. They ...

    • The prevalence of hereditary neuromuscular disorders in Northern Norway 

      Müller, Kai Ivar; Van Ghelue, Marijke; Lund, Irene; Jonsrud, Christoffer; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2020-11-13)
      <i>Aim</i> - To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway.<p> <p><i>Methods</i> - From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary neuromuscular disorders.<p> <p><i>Results</i> - We identified 542 patients with a hereditary neuromuscular disorder ...

    • A role of Sp1 binding motifs in basal and large T-Antigen-induced promoter activities of human polyomavirus HPyV9 and its variant UF-1 

      Moens, Ugo; Song, Xiaobo; Van Ghelue, Marijke; Lednicky, John A.; Ehlers, Bernhard (Journal article; Tidsskriftartikkel; Peer reviewed, 2017-11-14)
      Human polyomavirus 9 (HPyV9) was originally detected in the serum of a renal transplant patient. Seroepidemiological studies showed that ~20-50% of the human population have antibodies against this virus. HPyV9 has not yet been associated with any disease and little is known about the route of infection, transmission, host cell tropism, and genomic variability in circulating strains. Recently, the ...