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Items: 1 to 20 of 21


Defective immuno- and thymoproteasome assembly causes severe immunodeficiency.

Treise I, Huber EM, Klein-Rodewald T, Heinemeyer W, Grassmann SA, Basler M, Adler T, Rathkolb B, Helming L, Andres C, Klaften M, Landbrecht C, Wieland T, Strom TM, McCoy KD, Macpherson AJ, Wolf E, Groettrup M, Ollert M, Neff F, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Groll M, Busch DH.

Sci Rep. 2018 Apr 13;8(1):5975. doi: 10.1038/s41598-018-24199-0.


New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts.

Kunze S, Dalke C, Fuchs H, Klaften M, Rössler U, Hornhardt S, Gomolka M, Puk O, Sabrautzki S, Kulka U, Hrabě de Angelis M, Graw J.

PLoS One. 2015 May 7;10(5):e0125304. doi: 10.1371/journal.pone.0125304. eCollection 2015.


Screen for alterations of iron related parameters in N-ethyl-N-nitrosourea-treated mice identified mutant lines with increased plasma ferritin levels.

Rathkolb B, Klempt M, Sabrautzki S, Michel D, Klaften M, Laufs J, Sedlmeier R, Hans W, Fuchs H, Muckenthaler MU, Horsch M, Campagna DR, Fleming M, Hrabé de Angelis M, Wolf E, Aigner B.

Biometals. 2015 Apr;28(2):293-306. doi: 10.1007/s10534-015-9824-1. Epub 2015 Jan 31.


Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines.

Fuchs H, Sabrautzki S, Seedorf H, Rathkolb B, Rozman J, Hans W, Schneider R, Klaften M, Hölter SM, Becker L, Klempt M, Elvert R, Wurst W, Klopstock T, Klingenspor M, Wolf E, Gailus-Durner V, de Angelis MH.

Eur J Oral Sci. 2012 Aug;120(4):269-77. doi: 10.1111/j.1600-0722.2012.00966.x.


New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.

Sabrautzki S, Rubio-Aliaga I, Hans W, Fuchs H, Rathkolb B, Calzada-Wack J, Cohrs CM, Klaften M, Seedorf H, Eck S, Benet-Pagès A, Favor J, Esposito I, Strom TM, Wolf E, Lorenz-Depiereux B, Hrabě de Angelis M.

Mamm Genome. 2012 Aug;23(7-8):416-30. doi: 10.1007/s00335-012-9397-z. Epub 2012 Apr 21. Erratum in: Mamm Genome. 2014 Dec;25(11-12):648.


Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters.

Aigner B, Rathkolb B, Klempt M, Wagner S, Michel D, Klaften M, Laufs J, Schneider B, Sedlmeier R, Hrabé de Angelis M, Wolf E.

Mamm Genome. 2011 Oct;22(9-10):495-505. doi: 10.1007/s00335-011-9328-4. Epub 2011 May 8.


A novel N-ethyl-N-nitrosourea-induced mutation in phospholipase Cγ2 causes inflammatory arthritis, metabolic defects, and male infertility in vitro in a murine model.

Abe K, Fuchs H, Boersma A, Hans W, Yu P, Kalaydjiev S, Klaften M, Adler T, Calzada-Wack J, Mossbrugger I, Rathkolb B, Rozman J, Prehn C, Maraslioglu M, Kametani Y, Shimada S, Adamski J, Busch DH, Esposito I, Klingenspor M, Wolf E, Wurst W, Gailus-Durner V, Katan M, Marschall S, Soewarto D, Wagner S, de Angelis MH.

Arthritis Rheum. 2011 May;63(5):1301-11. doi: 10.1002/art.30280.


Mutation of the Na(+)-K(+)-2Cl(-) cotransporter NKCC2 in mice is associated with severe polyuria and a urea-selective concentrating defect without hyperreninemia.

Kemter E, Rathkolb B, Bankir L, Schrewe A, Hans W, Landbrecht C, Klaften M, Ivandic B, Fuchs H, Gailus-Durner V, Hrabé de Angelis M, Wolf E, Wanke R, Aigner B.

Am J Physiol Renal Physiol. 2010 Jun;298(6):F1405-15. doi: 10.1152/ajprenal.00522.2009. Epub 2010 Mar 10.


Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2).

van Bürck L, Blutke A, Kautz S, Rathkolb B, Klaften M, Wagner S, Kemter E, Hrabé de Angelis M, Wolf E, Aigner B, Wanke R, Herbach N.

Am J Physiol Endocrinol Metab. 2010 Mar;298(3):E512-23. doi: 10.1152/ajpendo.00465.2009. Epub 2009 Dec 1.


Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism.

Kemter E, Rathkolb B, Rozman J, Hans W, Schrewe A, Landbrecht C, Klaften M, Ivandic B, Fuchs H, Gailus-Durner V, Klingenspor M, de Angelis MH, Wolf E, Wanke R, Aigner B.

Am J Physiol Renal Physiol. 2009 Nov;297(5):F1391-8. doi: 10.1152/ajprenal.00261.2009. Epub 2009 Aug 19.


Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2G257D mutant mouse.

Puk O, Dalke C, Calzada-Wack J, Ahmad N, Klaften M, Wagner S, de Angelis MH, Graw J.

Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5653-61. doi: 10.1167/iovs.09-3550. Epub 2009 Jul 2.


Genome-wide search for genes that modulate inflammatory arthritis caused by Ali18 mutation in mice.

Abe K, Klaften M, Narita A, Kimura T, Imai K, Kimura M, Rubio-Aliaga I, Wagner S, Jakob T, Hrabé de Angelis M.

Mamm Genome. 2009 Mar;20(3):152-61. doi: 10.1007/s00335-009-9170-0. Epub 2009 Feb 24.


Features and strategies of ENU mouse mutagenesis.

Soewarto D, Klaften M, Rubio-Aliaga I.

Curr Pharm Biotechnol. 2009 Feb;10(2):198-213. Review.


Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in plasma enzyme activities as novel organ-specific disease models.

Aigner B, Rathkolb B, Klaften M, Sedlmeier R, Klempt M, Wagner S, Michel D, Mayer U, Klopstock T, de Angelis MH, Wolf E.

Exp Physiol. 2009 Apr;94(4):412-21. doi: 10.1113/expphysiol.2008.045864. Epub 2009 Jan 16.


A mutation in the enamelin gene in a mouse model.

Seedorf H, Klaften M, Eke F, Fuchs H, Seedorf U, Hrabe de Angelis M.

J Dent Res. 2007 Aug;86(8):764-8.


Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies.

Hammel M, Michel G, Hoefer C, Klaften M, Müller-Höcker J, de Angelis MH, Holzinger A.

Biochem Biophys Res Commun. 2007 Aug 10;359(4):947-51. Epub 2007 Jun 11.


Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes and severe beta-cell loss in Munich Ins2C95S mutant mice.

Herbach N, Rathkolb B, Kemter E, Pichl L, Klaften M, de Angelis MH, Halban PA, Wolf E, Aigner B, Wanke R.

Diabetes. 2007 May;56(5):1268-76. Epub 2007 Feb 15.


Screening for increased plasma urea levels in a large-scale ENU mouse mutagenesis project reveals kidney disease models.

Aigner B, Rathkolb B, Herbach N, Kemter E, Schessl C, Klaften M, Klempt M, de Angelis MH, Wanke R, Wolf E.

Am J Physiol Renal Physiol. 2007 May;292(5):F1560-7. Epub 2007 Jan 30.


A genetic screen for modifiers of the delta1-dependent notch signaling function in the mouse.

Rubio-Aliaga I, Soewarto D, Wagner S, Klaften M, Fuchs H, Kalaydjiev S, Busch DH, Klempt M, Rathkolb B, Wolf E, Abe K, Zeiser S, Przemeck GK, Beckers J, de Angelis MH.

Genetics. 2007 Mar;175(3):1451-63. Epub 2006 Dec 18.


Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71rco12 and Krt71rco13.

Runkel F, Klaften M, Koch K, Böhnert V, Büssow H, Fuchs H, Franz T, Hrabé de Angelis M.

Mamm Genome. 2006 Dec;17(12):1172-82. Epub 2006 Dec 1.


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