Florian Witte

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes (2009)

Schwarzer, Wibke, Witte, Florian, Rajab, Anna, Mundlos, Stefan, Stricker, Sigmar

Mutations in ROR2 cause dominant brachydactyly type B (BDB1) or recessive Robinow syndrome (RRS), each characterized by a distinct combination of phenotypic features. We here report a novel nonsense...

The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome (2008)

Raz, Regina, Stricker, Sigmar, Elizabetta Gazzerro, Elizabetta, Clor, Julie L., Witte, Florian, Nistala, Harakiran, ...

Mutations in ROR2 result in a spectrum of genetic disorders in humans that are classified, depending on the nature of the mutation and the clinical phenotype, as either autosomal dominant...

Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome (2006)

Stricker, Sigmar, Van Wijk, Nicole Verhey, Witte, Florian, Brieske, Norbert, Seidel, Kathrin, Mundlos, Stefan

Ror2 is a receptor tyrosine kinase mutated in the human syndromes Brachydactyly type B (BDB) and recessive Robinow syndrome (RS). In this study, we used the chick as a model to investigate the role...

Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis

Kuss, Pia, Villavicencio-Lorini, Pablo, Witte, Florian, Klose, Joachim, Albrecht, Andrea N., Seemann, Petra, ...

Individuals with the birth defect synpolydactyly (SPD) have 1 or more digit duplicated and 2 or more digits fused together. One form of SPD is caused by polyalanine expansions in homeobox d13...