Institute of Human Genetics

Martin Luther University Halle-Wittenberg, Magdeburger Str. 2, 06112 Halle
Phone: +49 345 557 4292


Equipment and facilities of the group and centre

  • Genetic counselling
  • Genetic testing
  • Analyses of candidate genes, identification of new disease genes
  • Animal models
  • Laminopathies

Topics of interest

  • Diagnostic screening for LD mutations
  • Identification of new LD genes
  • Genotype-phenotype correlation
  • Characterisation of LD disease genes and mutations (clinical phenotype, functional studies, animal models)
  • Laminopathies


Publicactions

  • Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SAA, Langer R, Saleh AAH, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, Delphine Gomez D, Michel JB, Stricker S, Lindner TH, Nürnberg P, Sugahara K, Mundlos S, Hoffmann K. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet. 2011 Jul 15;89(1):15-27. 
  • Clayton P, Fischer B, Mann A, Mansour S, Rossier E, Veen M, Lang C, Baasanjav S, Brossuleit K, Gravemann S, Schnipper N, Karbasyian M, Demuth I, Zwerger M, Vaya A, Utermann G, Mundlos S, Stricker S, Sperling K, Hoffmann K. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of the Lamin B receptor. Nucleus 1 (4): 354 – 366, 2010. 
  • Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A. 2010 Nov;152A(11):2749-55.
  • Shultz LD, Lyons BL, Burzenski LM, Gott B, Samuels R, Schweitzer PA, Dreger C, Herrmann H, Kalscheuer V, Olins AL, Olins DE, Sperling K, Hoffmann K. Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly. Hum Mol Genet 12: 61-69, 2003
  • Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, Karl H, Kaps R, Muller D, Vaya A, Aznar J, Ware RE, Sotelo Cruz N, Lindner TH, Herrmann H, Reis A, Sperling K. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). Nat Genet 31: 410-414, 2002


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