Marie. Bangratz, et.al., A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking., The American journal of pathology, 2012, 180

http://rdf.ncbi.nlm.nih.gov/pubmed/22449950

Marie. Bangratz, et.al., A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking., The American journal of pathology, 2012, 180

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal internode morphology_Hspg2<tm1Soni>/Hspg2<tm1Soni>
  http://metadb.riken.jp/0010738I129SSvEvDBA2JHspg2tm1SoniHspg2tm1SoniHspg2tm1Soni
• abnormal myelin sheath morphology_Hspg2<tm1Soni>/Hspg2<tm1Soni>
  http://metadb.riken.jp/0003871I129SSvEvDBA2JHspg2tm1SoniHspg2tm1SoniHspg2tm1Soni
• abnormal neuromuscular synapse morphology_Hspg2<tm1Soni>/Hspg2<tm1Soni>
  http://metadb.riken.jp/0001053I129SSvEvDBA2JHspg2tm1SoniHspg2tm1SoniHspg2tm1Soni
• abnormal action potential_Hspg2<tm1Soni>/Hspg2<tm1Soni>
  http://metadb.riken.jp/0005402I129SSvEvDBA2JHspg2tm1SoniHspg2tm1SoniHspg2tm1Soni
• increased Schwann cell number_Hspg2<tm1Soni>/Hspg2<tm1Soni>
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• abnormal paranode morphology_Hspg2<tm1Soni>/Hspg2<tm1Soni>
  http://metadb.riken.jp/0010734I129SSvEvDBA2JHspg2tm1SoniHspg2tm1SoniHspg2tm1Soni
• abnormal axon morphology_Hspg2<tm1Soni>/Hspg2<tm1Soni>
  http://metadb.riken.jp/0005404I129SSvEvDBA2JHspg2tm1SoniHspg2tm1SoniHspg2tm1Soni
• demyelination_Hspg2<tm1Soni>/Hspg2<tm1Soni>
  http://metadb.riken.jp/0000921I129SSvEvDBA2JHspg2tm1SoniHspg2tm1SoniHspg2tm1Soni
• abnormal node of Ranvier morphology_Hspg2<tm1Soni>/Hspg2<tm1Soni>
  http://metadb.riken.jp/0010732I129SSvEvDBA2JHspg2tm1SoniHspg2tm1SoniHspg2tm1Soni