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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H. Schwarz K, et al. Among authors: holzmann k. Nat Genet. 2009 Aug;41(8):936-40. doi: 10.1038/ng.405. Epub 2009 Jun 28. Nat Genet. 2009. PMID: 19561605 Free article.
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
Cario H, Smith DE, Blom H, Blau N, Bode H, Holzmann K, Pannicke U, Hopfner KP, Rump EM, Ayric Z, Kohne E, Debatin KM, Smulders Y, Schwarz K. Cario H, et al. Among authors: holzmann k. Am J Hum Genet. 2011 Feb 11;88(2):226-31. doi: 10.1016/j.ajhg.2011.01.007. Am J Hum Genet. 2011. PMID: 21310277 Free PMC article.
Deficiency of innate and acquired immunity caused by an IKBKB mutation.
Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, Janda A, Hese K, Schlesier M, Holzmann K, Borte S, Laux C, Rump EM, Rosenberg A, Zelinski T, Schrezenmeier H, Wirth T, Ehl S, Schroeder ML, Schwarz K. Pannicke U, et al. Among authors: holzmann k. N Engl J Med. 2013 Dec 26;369(26):2504-14. doi: 10.1056/NEJMoa1309199. N Engl J Med. 2013. PMID: 24369075 Free article.
Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.
Kohlhammer H, Schwaenen C, Wessendorf S, Holzmann K, Kestler HA, Kienle D, Barth TF, Möller P, Ott G, Kalla J, Radlwimmer B, Pscherer A, Stilgenbauer S, Döhner H, Lichter P, Bentz M. Kohlhammer H, et al. Among authors: holzmann k. Blood. 2004 Aug 1;104(3):795-801. doi: 10.1182/blood-2003-12-4175. Epub 2004 Apr 13. Blood. 2004. PMID: 15090459 Free article.
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.
Naumann M, Pal A, Goswami A, Lojewski X, Japtok J, Vehlow A, Naujock M, Günther R, Jin M, Stanslowsky N, Reinhardt P, Sterneckert J, Frickenhaus M, Pan-Montojo F, Storkebaum E, Poser I, Freischmidt A, Weishaupt JH, Holzmann K, Troost D, Ludolph AC, Boeckers TM, Liebau S, Petri S, Cordes N, Hyman AA, Wegner F, Grill SW, Weis J, Storch A, Hermann A. Naumann M, et al. Among authors: holzmann k. Nat Commun. 2018 Jan 23;9(1):335. doi: 10.1038/s41467-017-02299-1. Nat Commun. 2018. PMID: 29362359 Free PMC article.
Multi-platform profiling characterizes molecular subgroups and resistance networks in chronic lymphocytic leukemia.
Bloehdorn J, Braun A, Taylor-Weiner A, Jebaraj BMC, Robrecht S, Krzykalla J, Pan H, Giza A, Akylzhanova G, Holzmann K, Scheffold A, Johnston HE, Yeh RF, Klymenko T, Tausch E, Eichhorst B, Bullinger L, Fischer K, Weisser M, Robak T, Schneider C, Gribben J, Dahal LN, Carter MJ, Elemento O, Landau DA, Neuberg DS, Cragg MS, Benner A, Hallek M, Wu CJ, Döhner H, Stilgenbauer S, Mertens D. Bloehdorn J, et al. Among authors: holzmann k. Nat Commun. 2021 Sep 13;12(1):5395. doi: 10.1038/s41467-021-25403-y. Nat Commun. 2021. PMID: 34518531 Free PMC article.
213 results