Molecular Pathology and Embryology of HOXD Related Limb Malformations

• Applicant: Professor Dr. Stefan Mundlos
• Subject Area: Human Genetics
• Term: from 2009 to 2012
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 134245387

• Final Report Year: 2013

Final Report Abstract

No abstract available

Publications

• Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. Journal of Clinical Investigation, Vol. 120. 2010, Issue 6, pp. 1994–2004.
  Villavicencio-Lorini P, Kuss P, Friedrich J, Haupt J, Farooq M, Türkmen S, Duboule D, Hecht J, Mundlos S.
  (See online at https://dx.doi.org/10.1172/JCI41554)
• Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. European Journal of Human Genetics, Vol. 18. 2010, pp. 1310–1314.
  Kantaputra PN, Klopocki E, Hennig BP, Praphanphoj V, Le Caignec C, Isidor B, Kwee ML, Shears DJ, Mundlos S.
  (See online at https://dx.doi.org/10.1038/ejhg.2010.116)
• Distinct global shifts in genomic binding profiles of limb malformation associated HOXD13 mutations. Genome Research, Vol. 23. 2013, pp 2091-2102.
  Ibrahim DM, Hansen P, Rödelsperger C, Stiege AC, Dölken S, Horn D, Jäger M, Janetzki C, Krawitz P, Leschik G, Wagner F, Scheuer T, Schmidt-von Kegler M, Seemann P, Timmermann B, Robinson PN, Mundlos S, Hecht J.
  (See online at https://doi.org/10.1101/gr.157610.113)
• Regulation of Cell Polarity in the Cartilage Growth Plate and Perichondrium of Metacarpal Elements by HOXD13 and WNT5A. Developmental Biology, Vol. 385. 2014, Issue 1, pp. 83–93.
  Kuss P, Kraft K, Stumm J, Ibrahim D, Vallecillo-Garcia P, Mundlos S, Stricker S.
  (See online at https://doi.org/10.1016/j.ydbio.2013.10.013)