Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Andreas Benneche"'
Autor:
Janne Austestad, Tor Magne Madland, Miriam Sandnes, Torjan Magne Haslerud, Andreas Benneche, Håkon Reikvam
Publikováno v:
Case Reports in Hematology, Vol 2023 (2023)
VEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the UBA1. There is an association between VEXAS and he
Externí odkaz:
https://doaj.org/article/0699e613701c455994dc8e50e9663771
Autor:
Siren Berland, Andreas Benneche, Andrew E. Fry, Kate Chandler, Julie Paulsen, Marie Falkenberg Smeland, Nicola Foulds, Neeti Ghali, Katrina Prescott, Jenny Carmichael, Vani Jain, Kay Metcalfe, Oliver Murch, Emma Hobson
Publikováno v:
Eur J Hum Genet
White–Sutton syndrome (WHSUS) is a neurodevelopmental disorder caused by heterozygous loss-of-function variants in POGZ. Through the Deciphering Developmental Disorders study and clinical testing, we identified 12 individuals from 10 families with
Autor:
Christina Torres, Kozycki, Shilpa, Kodati, Laryssa, Huryn, Hongying, Wang, Blake M, Warner, Priyam, Jani, Dima, Hammoud, Mones S, Abu-Asab, Yingyos, Jittayasothorn, Mary J, Mattapallil, Wanxia Li, Tsai, Ehsan, Ullah, Ping, Zhou, Xiaoying, Tian, Ariane, Soldatos, Niki, Moutsopoulos, Marie, Kao-Hsieh, Theo, Heller, Edward W, Cowen, Chyi-Chia Richard, Lee, Camilo, Toro, Shelley, Kalsi, Zohreh, Khavandgar, Alan, Baer, Margaret, Beach, Debra, Long Priel, Michele, Nehrebecky, Sofia, Rosenzweig, Tina, Romeo, Natalie, Deuitch, Laurie, Brenchley, Eileen, Pelayo, Wadih, Zein, Nida, Sen, Alexander H, Yang, Gary, Farley, David A, Sweetser, Lauren, Briere, Janine, Yang, Fabiano, de Oliveira Poswar, Ida Vanessa D, Schwartz, Tamires, Silva Alves, Perrine, Dusser, Isabelle, Koné-Paut, Isabelle, Touitou, Salah Mohamed, Titah, Petrus Martin, van Hagen, Rogier T A, van Wijck, Peter J, van der Spek, Hiromi, Yano, Andreas, Benneche, Ellen M, Apalset, Ragnhild Wivestad, Jansson, Rachel R, Caspi, Douglas Byron, Kuhns, Massimo, Gadina, Hidetoshi, Takada, Hiroaki, Ida, Ryuta, Nishikomori, Elena, Verrecchia, Eugenio, Sangiorgi, Raffaele, Manna, Brian P, Brooks, Lucia, Sobrin, Robert B, Hufnagel, David, Beck, Feng, Shao, Amanda K, Ombrello, Ivona, Aksentijevich, Daniel L, Kastner, Rachel, Mahoney
Publikováno v:
Annals of the rheumatic diseases. 81(10)
To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation inThis cohort study systematically evaluated 27 patients with ROSAH syndrome for inflammatory featu
Autor:
Thea Sjøgren, Eirik Bratland, Ellen C. Røyrvik, Marianne Aa. Grytaas, Andreas Benneche, Per M. Knappskog, Olle Kämpe, Bergithe E. Oftedal, Eystein S. Husebye, Anette S.B. Wolff
Publikováno v:
Journal of Autoimmunity. 133:102917
Autoantibodies against type I interferons (IFN) alpha (α) and omega (ω), and interleukins (IL) 17 and 22 are a hallmark of autoimmune polyendocrine syndrome type 1 (APS-1), caused by mutations in the autoimmune regulator (AIRE) gene. Such antibodie
Autor:
Paola Goffrini, Felice D'Arco, Enrico Baruffini, Adeline Vanderver, Tamison Jewett, Enrico Bertini, Anya Revah-Politi, Eirik Bratland, Vandana Shashi, Alessandra D'Amico, Camilla Ceccatelli Berti, Vimla Aggarwal, Silvia Maitz, Kwame Anyane-Yeboa, Tara H. Stamper, Francesco Canonico, Gabriel S Kupchik, Andreas Benneche, César Augusto Pinheiro Ferreira Alves, Daniela Longo, Gerarda Cappuccio, Annalaura Torella, Vincenzo Nigro, Nicola Brunetti-Pierri, Marjo S van der Knaap, Siren Berland, Jennifer A. Sullivan
Publikováno v:
Human Mutation, 42(6), 745-761. Wiley-Liss Inc.
Telethon Undiagnosed Diseases Program 2021, ' Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease ', Human Mutation, vol. 42, no. 6, pp. 745-761 . https://doi.org/10.1002/humu.24210
Web of Science
Human Mutation
Telethon Undiagnosed Diseases Program 2021, ' Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease ', Human Mutation, vol. 42, no. 6, pp. 745-761 . https://doi.org/10.1002/humu.24210
Web of Science
Human Mutation
KARS1 encodes a lysyl-transfer RNA synthetase (LysRS) that links lysine to its cognate tRNA. Two different KARS1 isoforms exert functional effects in cytosol and mitochondria. Bi-allelic pathogenic variants in KARS1 have been associated to sensorineu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::882282390879396ca62daaccc96a0201
https://research.vumc.nl/en/publications/ac77c7fb-0db0-43ed-8e07-bd8ed9a17451
https://research.vumc.nl/en/publications/ac77c7fb-0db0-43ed-8e07-bd8ed9a17451
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 140(16)
Elevated serum ferritin levels are common findings in clinical practice, usually caused by inflammation, liver disease, high alcohol consumption or malignancy, although it can occur in association with rare genetic conditions.We describe a male in hi
Publikováno v:
Tidsskrift for Den norske legeforening
Background Elevated serum ferritin levels are common findings in clinical practice, usually caused by inflammation, liver disease, high alcohol consumption or malignancy, although it can occur in association with rare genetic conditions. Case present
Autor:
Andreas Benneche
Publikováno v:
Tidsskrift for Den norske legeforening. 136:2027-2027