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Johannes Egerer

Showing results (1-10 of 7) with videos related to

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The Journal of Cell Biology|March 23, 2005
Golgi positioning: are we looking at the right MAP?Francis A Barr, Johannes Egerer
The Journal of Cell Biology|July 25, 2007
Functional dissection of Rab GTPases involved in primary cilium formationShin-Ichiro Yoshimura, Johannes Egerer, Evelyn Fuchs, et al.
The Journal of Investigative Dermatology|May 23, 2015
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi TargetingJohannes Egerer, Denise Emmerich, Björn Fischer-Zirnsak, et al.
American Journal of Medical Genetics. Part A|January 23, 2016
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencingLuisa Mackenroth, Björn Fischer-Zirnsak, Johannes Egerer, et al.
Plos Genetics|March 22, 2018
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplasticaWing Lee Chan, Magdalena Steiner, Tomasz Witkos, et al.
Nature Genetics|November 11, 2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHans Christian Hennies, Uwe Kornak, Haikuo Zhang, et al.
Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
The Journal of Cell Biology|March 23, 2005
Golgi positioning: are we looking at the right MAP?Francis A Barr, Johannes Egerer
The Journal of Cell Biology|July 25, 2007
Functional dissection of Rab GTPases involved in primary cilium formationShin-Ichiro Yoshimura, Johannes Egerer, Evelyn Fuchs, et al.
The Journal of Investigative Dermatology|May 23, 2015
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi TargetingJohannes Egerer, Denise Emmerich, Björn Fischer-Zirnsak, et al.
American Journal of Medical Genetics. Part A|January 23, 2016
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencingLuisa Mackenroth, Björn Fischer-Zirnsak, Johannes Egerer, et al.
Plos Genetics|March 22, 2018
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplasticaWing Lee Chan, Magdalena Steiner, Tomasz Witkos, et al.
Nature Genetics|November 11, 2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHans Christian Hennies, Uwe Kornak, Haikuo Zhang, et al.
Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.
Pageof 1