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  • 1. Anderson, Beverley H.
    et al.
    Kasher, Paul R.
    Mayer, Josephine
    Szynkiewicz, Marcin
    Jenkinson, Emma M.
    Bhaskar, Sanjeev S.
    Urquhart, Jill E.
    Daly, Sarah B.
    Dickerson, Jonathan E.
    O'Sullivan, James
    Leibundgut, Elisabeth Oppliger
    Muter, Joanne
    Abdel-Salem, Ghada M. H.
    Babul-Hirji, Riyana
    Baxter, Peter
    Berger, Andrea
    Bonafe, Luisa
    Brunstom-Hernandez, Janice E.
    Buckard, Johannes A.
    Chitayat, David
    Chong, Wui K.
    Cordelli, Duccio M.
    Ferreira, Patrick
    Fluss, Joel
    Forrest, Ewan H.
    Franzoni, Emilio
    Garone, Caterina
    Hammans, Simon R.
    Houge, Gunnar
    Hughes, Imelda
    Jacquemont, Sebastien
    Jeannet, Pierre-Yves
    Jefferson, Rosalind J.
    Kumar, Ram
    Kutschke, Georg
    Lundberg, Staffan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Lourenco, Charles M.
    Mehta, Ramesh
    Naidu, Sakkubai
    Nischal, Ken K.
    Nunes, Luis
    Ounap, Katrin
    Philippart, Michel
    Prabhakar, Prab
    Risen, Sarah R.
    Schiffmann, Raphael
    Soh, Calvin
    Stephenson, John B. P.
    Stewart, Helen
    Stone, Jon
    Tolmie, John L.
    van der Knaap, Marjo S.
    Vieira, Jose P.
    Vilain, Catheline N.
    Wakeling, Emma L.
    Wermenbol, Vanessa
    Whitney, Andrea
    Lovell, Simon C.
    Meyer, Stefan
    Livingston, John H.
    Baerlocher, Gabriela M.
    Black, Graeme C. M.
    Rice, Gillian I.
    Crow, Yanick J.
    Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus2012Inngår i: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 44, nr 3, s. 338-342Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.

  • 2.
    Bajic, Dragan
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för onkologi, radiologi och klinisk immunologi, Enheten för radiologi.
    Wang, Cheng
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för onkologi, radiologi och klinisk immunologi, Enheten för radiologi.
    Kumlien, Eva
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Mattsson, Peter
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Lundberg, Staffan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Raininko, Raili
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för onkologi, radiologi och klinisk immunologi.
    Incomplete inversion of the hippocampus: a common developmental anomaly2008Inngår i: European Radiology, ISSN 0938-7994, E-ISSN 1432-1084, Vol. 18, nr 1, s. 138-142Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Incomplete inversion of the hippocampus, an imperfect fetal development, has been described in patients with epilepsy or severe midline malformations. We studied this condition in a nonepileptic population without obvious developmental anomalies. We analyzed the coronal MR images of 50 women and 50 men who did not have epilepsy. Twenty of them were healthy volunteers and 80 were patients without obvious intracranial developmental anomalies, intracranial masses, hydrocephalus or any condition affecting the temporal lobes. If the entire hippocampus (the head could not be evaluated) were affected, the incomplete inversion was classified as total, otherwise as partial. Incomplete inversion of the hippocampus was found in 19/100 subjects (9 women, 10 men). It was unilateral, always on the left side, in 13 subjects (4 women, 9 men): 9 were of the total type, 4 were partial. It was bilateral in six subjects (five women, one man): four subjects had total types bilaterally, two had a combination of total and partial types. The collateral sulcus was vertically oriented in all subjects with a deviating hippocampal shape. We conclude that incomplete inversion of the hippocampus is not an unusual morphologic variety in a nonepileptic population without other obvious intracranial developmental anomalies.

  • 3.
    Lindgren, Åsa
    et al.
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Institutionen för psykologi.
    Kihlgren, Margareta
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Institutionen för psykologi.
    Melin, Lennart
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Institutionen för psykologi.
    Croona, Cecilia
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Institutionen för psykologi.
    Lundberg, Staffan
    Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Eeg-Olofsson, Orvar
    Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Development of cognitive functions in children with rolandic epilepsy2004Inngår i: Epilepsy & Behavior, Vol. 5, s. 903-910Artikkel i tidsskrift (Fagfellevurdert)
  • 4.
    Livingston, John H
    et al.
    Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United Kingdom.
    Mayer, Josephine
    Department of Genetic Medicine, University of Manchester, United Kingdom.
    Jenkinson, Emma
    Department of Genetic Medicine, University of Manchester, United Kingdom.
    Kasher, Paul
    Department of Genetic Medicine, University of Manchester, United Kingdom.
    Stivaros, Stavros
    Imaging, Genomics and Proteomics Research Group, University of Manchester, United Kingdom.
    Berger, Andrea
    Department of Pediatric Neurology, Children’s Hospital, Harlaching, Munich and University of Mainz, Germany.
    Cordelli, Duccio M
    Child Neuropsychiatry Unit, University of Bologna, Italy.
    Ferreira, Patrick
    Division of Medical Genetics, Alberta Children’s Hospital, Calgary, Canada.
    Jefferson, Rosalind
    Department of Paediatrics, Royal Berkshire Hospital, Reading, United Kingdom.
    Kutschke, Georg
    Department of Pediatrics and Neonatology, Universitätsklinikum des Saarlandes, Homburg, Germany.
    Lundberg, Staffan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Ounap, Katrin
    Department of Genetics, Tartu University Hospital, Estonia.
    Prabhakar, Prab
    Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
    Soh, Calvin
    Department of Neuroradiology, Salford Royal NHS Foundation Trust, United Kingdom.
    Stewart, Helen
    Department of Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, United Kingdom.
    Stone, Jon
    Department of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom.
    van der Knaap, Marjo S
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.
    van Esch, Hilda
    Center for Human Genetics, University Hospitals Leuven, Belgium.
    van Mol, Christine
    Center for Human Genetics, University Hospitals Leuven, Belgium.
    Wakeling, Emma
    North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, United Kingdom.
    Whitney, Andrea
    Department of Paediatric Neurology, Southampton General Hospital, United Kingdom.
    Rice, Gillian I
    Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United Kingdom.
    Crow, Yanick J
    Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United Kingdom.
    Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus2014Inngår i: Neuropediatrics, ISSN 0174-304X, E-ISSN 1439-1899, Vol. 45, nr 3, s. 175-182Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Objective

    With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity.

    Patients and Methods

    A total of 15 patients with LCC were identified from our database of patients with intracranial calcification. The clinical and radiological features are described.

    Results 

    The median age (range) at presentation was 10 months (range, 2 days-54 years). Of the 15 patients, 9 presented with epileptic seizures, 5 with motor abnormalities, and 1 with developmental delay. Motor abnormalities developed in 14 patients and cognitive problems in 13 patients. Dense calcification occurred in the basal ganglia, thalami, dentate nucleus, brain stem, deep gyri, deep white matter, and in a pericystic distribution. Diffuse leukoencephalopathy was present in all patients, and it was usually symmetrical involving periventricular, deep, and sometimes subcortical, regions. Cysts developed in the basal ganglia, thalamus, deep white matter, cerebellum, or brain stem. In unaffected areas, normal myelination was present. No patient demonstrated cerebral atrophy.

    Conclusion

    LCC shares the neuroradiological features of CP. However, LCC is a purely neurological disorder distinguished genetically by the absence of mutations in CTC1. The molecular cause(s) of LCC has (have) not yet been determined.

  • 5.
    Lourenço Dos Santos, Sofia
    et al.
    Sorbonne Universités, UPMC Univ Paris 06, UMR 8256, Biological Adaptation and Ageing-IBPS, Paris, France.
    Baraibar, Martin A
    Sorbonne Universités, UPMC Univ Paris 06, UMR 8256, Biological Adaptation and Ageing-IBPS, Paris, France.
    Lundberg, Staffan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Larsson, Lars
    Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
    Friguet, Bertrand
    Sorbonne Universités, UPMC Univ Paris 06, UMR 8256, Biological Adaptation and Ageing-IBPS, Paris, France.
    Oxidative proteome alterations during skeletal muscle ageing2015Inngår i: Redox Biology, ISSN 0090-7324, E-ISSN 2213-2317, Vol. 5, s. 267-274Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Sarcopenia corresponds to the degenerative loss of skeletal muscle mass, quality, and strength associated with ageing and leads to a progressive impairment of mobility and quality of life. However, the cellular and molecular mechanisms involved in this process are not completely understood. A hallmark of cellular and tissular ageing is the accumulation of oxidatively modified (carbonylated) proteins, leading to a decreased quality of the cellular proteome that could directly impact on normal cellular functions. Although increased oxidative stress has been reported during skeletal muscle ageing, the oxidized protein targets, also referred as to the 'oxi-proteome' or 'carbonylome', have not been characterized yet. To better understand the mechanisms by which these damaged proteins build up and potentially affect muscle function, proteins targeted by these modifications have been identified in human rectus abdominis muscle obtained from young and old healthy donors using a bi-dimensional gel electrophoresis-based proteomic approach coupled with immunodetection of carbonylated proteins. Among evidenced protein spots, 17 were found as increased carbonylated in biopsies from old donors comparing to young counterparts. These proteins are involved in key cellular functions such as cellular morphology and transport, muscle contraction and energy metabolism. Importantly, impairment of these pathways has been described in skeletal muscle during ageing. Functional decline of these proteins due to irreversible oxidation may therefore impact directly on the above-mentioned pathways, hence contributing to the generation of the sarcopenic phenotype.

  • 6.
    Lundberg, S
    et al.
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Frylmark, A
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Children with rolandic epilepsy have abnormalities of oromotor and dichotic listening performance2005Inngår i: Developmental Medicine & Child Neurology, Vol. 47, s. 603-608Artikkel i tidsskrift (Fagfellevurdert)
  • 7.
    Stattin, Eva-Lena
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Johansson, Josefin
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Gudmundsson, Sanna
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Ameur, Adam
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Lundberg, Staffan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Bondeson, Marie-Louise
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Wilbe, Maria
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin crease2018Inngår i: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 176, nr 6, s. 1405-1410Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder characterized by multiple joint contractures often in association with other congenital abnormalities. Pretibial linear vertical creases are a rare finding associated with arthrogryposis, and the etiology of the specific condition is unknown. We aimed to genetically and clinically characterize a boy from a consanguineous family, presenting with AMC and pretibial vertical linear creases on the shins. Whole exome sequencing and variant analysis revealed homozygous novel missense variants of ECEL1 (c.1163T > C, p.Leu388Pro, NM_004826) and MUSK (c.2572C > T, p.Arg858Cys, NM_005592). Both variants are predicted to have deleterious effects on the protein function, with amino acid positions highly conserved among species. The variants segregated in the family, with healthy mother, father, and sister being heterozygous carriers and the index patient being homozygous for both mutations. We report on a unique patient with a novel ECEL1 homozygous mutation, expanding the phenotypic spectrum of Distal AMC Type 5D to include vertical linear skin creases. The homozygous mutation in MUSK is of unknown clinical significance. MUSK mutations have previously shown to cause congenital myasthenic syndrome, a neuromuscular disorder with defects in the neuromuscular junction.

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