Markus Stumm
Otto-von-Guericke University Magdeburg
88 Papers
1K Citations
Markus Stumm is an academic researcher from Otto-von-Guericke University Magdeburg. The author has contributed to research in topics: Nijmegen breakage syndrome & Ataxia-telangiectasia. The author has an hindex of 30, co-authored 85 publications. Previous affiliations of Markus Stumm include Humboldt University of Berlin & Free University of Berlin.
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Papers
DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency
Mark O'Driscoll,Karen M. Cerosaletti,Pierre M. Girard,Yan Dai,Markus Stumm,Boris Kysela,Betsy A. Hirsch,Andrew R. Gennery,Susan E. Palmer,J. Seidel,Richard A. Gatti,Raymonda Varon,Marjorie A. Oettinger,Heidemarie Neitzel,Penny A. Jeggo,Patrick Concannon +15 more
TL;DR: Four patients with features including immunodeficiency and developmental and growth delay were found to have mutations in the gene encoding DNA ligase IV (LIG4), and their clinical phenotype closely resembles the DNA damage response disorder, Nijmegen breakage syndrome.
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Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
Regina Waltes,Reinhard Kalb,Magtouf Gatei,Amanda W. Kijas,Markus Stumm,Alexandra Sobeck,Britta Wieland,Raymonda Varon,Yaniv Lerenthal,Martin F. Lavin,Martin F. Lavin,Detlev Schindler,Thilo Dörk +12 more
TL;DR: A patient previously diagnosed as probably having NBS, with microcephaly, mental retardation, 'bird-like' face, and short stature is reported on, finding that she is compound heterozygous for mutations in the RAD50 gene that give rise to low levels of unstable RAD50 protein.
273
Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1
Petra van der Lelij,Krystyna H. Chrzanowska,Barbara C. Godthelp,Martin A. Rooimans,Anneke B. Oostra,Markus Stumm,Małgorzata Z. Zdzienicka,Hans Joenje,Johan P. de Winter +8 more
TL;DR: The DDX11-deficient patient represents another cohesinopathy, besides Cornelia de Lange syndrome and Roberts syndrome, and shows thatDDX11 functions at the interface between DNA repair and sister chromatid cohesion.
205
Nonhomologous end joining and V(D)J recombination require an additional factor
Yan Dai,Boris Kysela,L. A. Hanakahi,Kostas G. Manolis,Enriqueta Riballo,Markus Stumm,T. O. Harville,Stephen C. West,Marjorie A. Oettinger,Penny A. Jeggo +9 more
TL;DR: A patient with T−B− severe combined immunodeficiency, whose cells have defects closely resembling those of NHEJ-defective rodent cells, is described, providing strong evidence that additional activities are crucial for N HEJ and V(D)J recombination in mammals.
194
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
Berthold Struk,Li Cai,Stéphanie Zäch,Wan Ji,Joon Chung,Amanda L. Lumsden,Markus Stumm,Marcel Huber,Lori Schaen,Chung-Ah Kim,Lowell A. Goldsmith,Denis Viljoen,Luis E. Figuera,Wayne Fuchs,Francis L. Munier,Raj Ramesar,Daniel Hohl,Robert I. Richards,Kenneth H. Neldner,Klaus Lindpaintner +19 more
TL;DR: The identification of mutations in the gene encoding the transmembrane transporter protein, ABC-C6 (also known as MRP-6), one of the four genes located in the region of linkage, as cause of the disease is reported.
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