Search Results - "Knappskog, Per M"

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases by Oftedal, Bergithe E., Hellesen, Alexander, Erichsen, Martina M., Bratland, Eirik, Vardi, Ayelet, Perheentupa, Jaakko, Kemp, E. Helen, Fiskerstrand, Torunn, Viken, Marte K., Weetman, Anthony P., Fleishman, Sarel J., Banka, Siddharth, Newman, William G., Sewell, W.A.C., Sozaeva, Leila S., Zayats, Tetyana, Haugarvoll, Kristoffer, Orlova, Elizaveta M., Haavik, Jan, Johansson, Stefan, Knappskog, Per M., Løvås, Kristian, Wolff, Anette S.B., Abramson, Jakub, Husebye, Eystein S.

“…The autoimmune regulator (AIRE) gene is crucial for establishing central immunological tolerance and preventing autoimmunity. Mutations in AIRE cause a rare…”
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A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1 by Oftedal, Bergithe Eikeland, Berger, Amund Holte, Bruserud, Øyvind, Goldfarb, Yael, Sulen, Andre, Breivik, Lars, Hellesen, Alexander, Ben-Dor, Shifra, Haffner-Krausz, Rebecca, Knappskog, Per M, Johansson, Stefan, Wolff, Anette Sb, Bratland, Eirik, Abramson, Jakub, Husebye, Eystein Sverre

“…Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic…”
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Genome-wide analysis of attention deficit hyperactivity disorder in Norway by Zayats, Tetyana, Athanasiu, Lavinia, Sonderby, Ida, Djurovic, Srdjan, Westlye, Lars T, Tamnes, Christian K, Fladby, Tormod, Aase, Heidi, Zeiner, Pål, Reichborn-Kjennerud, Ted, Knappskog, Per M, Knudsen, Gun Peggy, Andreassen, Ole A, Johansson, Stefan, Haavik, Jan

“…Attention deficit hyperactivity disorder (ADHD) is a highly heritable neuropsychiatric condition, but it has been difficult to identify genes underlying this…”
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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 by Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.

“…A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan…”
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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism by Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

“…Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing…”
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In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins by Pakdaman, Yasaman, Sanchez-Guixé, Monica, Kleppe, Rune, Erdal, Sigrid, Bustad, Helene J, Bjørkhaug, Lise, Haugarvoll, Kristoffer, Tzoulis, Charalampos, Heimdal, Ketil, Knappskog, Per M, Johansson, Stefan, Aukrust, Ingvild

“…Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP1 homology and U-box containing protein 1 ( ) gene encoding…”
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Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration by Brunetti, Dario, Torsvik, Janniche, Dallabona, Cristina, Teixeira, Pedro, Sztromwasser, Pawel, Fernandez‐Vizarra, Erika, Cerutti, Raffaele, Reyes, Aurelio, Preziuso, Carmela, D'Amati, Giulia, Baruffini, Enrico, Goffrini, Paola, Viscomi, Carlo, Ferrero, Ileana, Boman, Helge, Telstad, Wenche, Johansson, Stefan, Glaser, Elzbieta, Knappskog, Per M, Zeviani, Massimo, Bindoff, Laurence A

“…Mitochondrial dysfunction and altered proteostasis are central features of neurodegenerative diseases. The pitrilysin metallopeptidase 1 (PITRM1) is a…”
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Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16 by Pakdaman, Yasaman, Berland, Siren, Bustad, Helene J., Erdal, Sigrid, Thompson, Bryony A., James, Paul A., Power, Kjersti N., Ellingsen, Ståle, Krooni, Martin, Berge, Line I., Sexton, Adrienne, Bindoff, Laurence A., Knappskog, Per M., Johansson, Stefan, Aukrust, Ingvild

“…Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that…”
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Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients by Mavroconstanti, Thegna, Johansson, Stefan, Winge, Ingeborg, Knappskog, Per M, Haavik, Jan

“…The CDH13 gene codes for T-cadherin, a GPI-anchored protein with cell adhesion properties that is highly expressed in the brain and cardiovascular system…”
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Different properties of the central and peripheral forms of human tryptophan hydroxylase by McKinney, Jeffrey, Knappskog, Per M., Haavik, Jan

“…Tryptophan hydroxylase (TPH) catalyses the rate‐limiting reaction in the biosynthesis of serotonin. In humans, two different TPH genes exist, located on…”
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Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy by Flønes, Irene, Sztromwasser, Paweł, Haugarvoll, Kristoffer, Dölle, Christian, Lykouri, Maria, Schwarzlmüller, Thomas, Jonassen, Inge, Miletic, Hrvoje, Johansson, Stefan, Knappskog, Per M, Bindoff, Laurence A, Tzoulis, Charalampos

“…Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although the disease…”
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Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish by Pakdaman, Yasaman, Denker, Elsa, Austad, Eirik, Norton, William H. J., Rolfsnes, Hans O., Bindoff, Laurence A., Tzoulis, Charalampos, Aukrust, Ingvild, Knappskog, Per M., Johansson, Stefan, Ellingsen, Ståle

“…The ubiquitin ligase CHIP (C-terminus of Hsc70-interacting protein) is encoded by STUB1 and promotes ubiquitination of misfolded and damaged proteins. CHIP…”
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Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding by Winge, Ingeborg, McKinney, Jeffrey A, Ying, Ming, D'Santos, Clive S, Kleppe, Rune, Knappskog, Per M, Haavik, Jan

“…TPH (tryptophan hydroxylase) catalyses the rate-limiting step in the synthesis of serotonin, and exists in two isoforms: TPH1, mainly found in peripheral…”
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Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene by Bredrup, Cecilie, Knappskog, Per M, Majewski, Jacek, Rodahl, Eyvind, Boman, Helge

“…To describe the clinical and pathologic characteristics of a family with a congenital stromal dystrophy of the cornea and to identify the genetic basis for…”
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Global Gene Expression Profiling and Tissue Microarray Reveal Novel Candidate Genes and Down-Regulation of the Tumor Suppressor Gene CAV1 in Sporadic Vestibular Schwannomas by Aarhus, Mads, Bruland, Ove, Sætran, Hege Aase, Mork, Sverre J, Lund-Johansen, Morten, Knappskog, Per M

“…Abstract BACKGROUND: The vestibular nerve is the predilection site for schwannomas. Few transcriptomic studies have been performed on solely sporadic…”
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Limited gene flow among brown bear populations in far Northern Europe? Genetic analysis of the east-west border population in the Pasvik Valley by SCHREGEL, JULIA, KOPATZ, ALEXANDER, HAGEN, SNORRE B., BRØSETH, HENRIK, SMITH, MARTIN E., WIKAN, STEINAR, WARTIAINEN, INGVILD, ASPHOLM, PAUL E., ASPI, JOUNI, SWENSON, JON E., MAKAROVA, OLGA, POLIKARPOVA, NATALIA, SCHNEIDER, MICHAEL, KNAPPSKOG, PER M., RUOKONEN, MINNA, KOJOLA, ILPO, TIRRONEN, KONSTANTIN F., DANILOV, PJOTR I., EIKEN, HANS GEIR

“…Noninvasively collected genetic data can be used to analyse large‐scale connectivity patterns among populations of large predators without disturbing them,…”
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Three-Dimensional Structure of Human Tryptophan Hydroxylase and Its Implications for the Biosynthesis of the Neurotransmitters Serotonin and Melatonin by Wang, Lin, Erlandsen, Heidi, Haavik, Jan, Knappskog, Per M, Stevens, Raymond C

“…Tryptophan hydroxylase oxidizes l-tryptophan to 5-hydroxy-l-tryptophan in the rate-determining step of serotonin biosynthesis. We have determined the X-ray…”
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Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy by Bredrup, Cecilie, Stang, Espen, Bruland, Ove, Palka, Barbara P, Young, Robert D, Haavik, Jan, Knappskog, Per M, Rødahl, Eyvind

“…Congenital stromal corneal dystrophy (CSCD) is characterized by stromal opacities that morphologically are seen as interlamellar layers of amorphous substance…”
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Functional properties of missense variants of human tryptophan hydroxylase 2 by McKinney, Jeffrey A, Turel, Banu, Winge, Ingeborg, Knappskog, Per M, Haavik, Jan

“…Tryptophan hydroxylase 2 (TPH2) catalyzes the rate-limiting step in serotonin biosynthesis in the nervous system. Several variants of human TPH2 have been…”
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Exome sequencing and genetic testing for MODY by Johansson, Stefan, Irgens, Henrik, Chudasama, Kishan K, Molnes, Janne, Aerts, Jan, Roque, Francisco S, Jonassen, Inge, Levy, Shawn, Lima, Kari, Knappskog, Per M, Bell, Graeme I, Molven, Anders, Njølstad, Pål R

“…Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing…”
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