Rebecca Higgins
Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
Higgins R, Fischer T, Schwieger-Briel A, French L, Hoetzenecker W, Hornung R, Malzacher A, Cozzio A, Navarini A, Has C, Chang Y, Desislava I, Jensen A, Wachstein J, Bruckner-Tuderman L, Spiegel R, Traber H, Achermann J, Schaller M, Fehrenbacher B, Röcken M, Guenova E. Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn. Acta Derm Venereol 2020; 100:adv00041.
Jan 30, 2020Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
Jan 30, 2020Acta Derm Venereol 2020; 100:adv00041
Higgins Rebecca, Fischer Tina, Schwieger-Briel Agnes E, French Lars E, Hoetzenecker Wolfram, Hornung René, Malzacher Andreas, Cozzio Antonio, Navarini Alexander, Has Cristina, Chang Yun-Tsan, Desislava Ignatova, Jensen Annika N, Wachstein Julian, Bruckner-Tuderman Leena, Spiegel Roland, Traber Hubert, Achermann Josef, Schaller Martin, Fehrenbacher Birgit, Röcken Martin, Guenova Emmanuella
SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2
Burgener A, Dimeloe S, Lötscher J, Sauder U, Ebnöther M, Burger B, Heijnen I, Martínez-Cano S, Cantoni N, Brücker R, Kahlert C, Sancho D, Jones R, Navarini A, Recher M, Epple R, Grählert J, Müller-Durovic B, Bantug G, Meyer B, Higgins R, Ghosh A, Bignucolo O, Ma E, Loeliger J, Unterstab G, Geigges M, Steiner R, Enamorado M, Ivanek R, Hunziker D, Schmidt A, Hess C. SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2. Nat Immunol 2019; 20:1311-1321.
Sep 16, 2019SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2
Sep 16, 2019Nat Immunol 2019; 20:1311-1321
Burgener Anne-Valérie, Dimeloe Sarah, Lötscher Jonas, Sauder Ursula, Ebnöther Monika, Burger Bettina, Heijnen Ingmar, Martínez-Cano Sarai, Cantoni Nathan, Brücker Rolf, Kahlert Christian, Sancho David, Jones Russell G, Navarini Alexander, Recher Mike, Epple Raja, Grählert Jasmin, Müller-Durovic Bojana, Bantug Glenn R, Meyer Benedikt J, Higgins Rebecca, Ghosh Adhideb, Bignucolo Olivier, Ma Eric H, Loeliger Jordan, Unterstab Gunhild, Geigges Marco, Steiner Rebekah, Enamorado Michel, Ivanek Robert, Hunziker Danielle, Schmidt Alexander, Hess Christoph
Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis
Navarini A, Bignucolo O, Meyer B, Meienberg F, Mehling M, Jeker L, Heijnen I, Daikeler T, Gebbers J, Grimbacher B, Sansom D, Jeker R, Hess C, Jauch A, Kistner A, Bigler M, Hruz P, Berger C, Hou T, Schwab C, Gabrysch A, Higgins R, Frede N, Padberg S, Kämpe O, Burgener A, Marquardsen F, Baldin F, Recher M. Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis. J Allergy Clin Immunol 2016; 139:1043-1046.e5.
Nov 28, 2016Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis
Nov 28, 2016J Allergy Clin Immunol 2016; 139:1043-1046.e5
Navarini Alexander A, Bignucolo Olivier, Meyer Benedikt, Meienberg Fabian, Mehling Matthias, Jeker Lukas T, Heijnen Ingmar, Daikeler Thomas D, Gebbers Jan-Olaf, Grimbacher Bodo, Sansom David M, Jeker Raphael, Hess Christoph, Jauch Annaise, Kistner Anne, Bigler Marc, Hruz Petr, Berger Christoph T, Hou Tie Zheng, Schwab Charlotte, Gabrysch Annemarie, Higgins Rebecca, Frede Natalie, Padberg Sgier, Kämpe Olle, Burgener Anne-Valérie, Marquardsen Florian, Baldin Fabian, Recher Mike