Sonja Bonneick

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Mutations in the gene encoding myotubularin-related protein 2 (MTMR2) are responsible for autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe hereditary motor and sensory neuropathy characterized by focally folded myelin sheaths and demyelination. MTMR2 belongs to the myotubularin family, which is characterized by the presence of a(More)
Charcot-Marie-Tooth (CMT) disease denotes a large group of genetically heterogeneous hereditary motor and sensory neuropathies and ranks among the most common inherited neurological disorders. Mutations in the Myotubularin-Related Protein-2 (MTMR2) or MTMR13/Set-Binding Factor-2 (SBF2) genes are associated with the autosomal recessive disease subtypes(More)
We have identified a novel chicken gene, cMespo, which encodes a basic-helix-loop-helix (bHLH) protein with sequence homology to a subgroup of bHLH transcription factors that have been implicated in somitogenesis. cMespo transcripts are first found in the primitive streak of gastrulating chick embryos (HH stage 4) and continue to accumulate in presomitic(More)
Abstract Somitogenesis in vertebrates involves prepatterning of paraxial mesoderm into somitomeres, establishing of anteroposterior polarity within somite primordia, and boundary formation between individual somites. cMeso2 is a newly identified chicken gene encoding a bHLH transcription factor, which is expressed in a transient stripe pattern in anterior(More)
We report on a novel, polymer-based, multi-channel device for polymerase chain reaction that combines, for the first time, rapid sample processing in less than 5 min with high throughput at low costs. This is achieved by sample shuttling, during which submicroliter sample plugs (approximately 100 nl) are oscillated rapidly over three constant-temperature(More)
Charcot-Marie-Tooth disease (CMT) comprises a family of clinically and genetically very heterogeneous hereditary peripheral neuropathies and is one of the most common inherited neurological disorders. We have generated a mouse model for CMT type 4B1 using embryonic stem cell technology. To this end, we introduced a stop codon into the Mtmr2 locus within(More)
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