Dora C. Tărlungeanu, et.al., Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder., Cell, 2016, 167

http://rdf.ncbi.nlm.nih.gov/pubmed/27912058

Dora C. Tărlungeanu, et.al., Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder., Cell, 2016, 167

pubmed

表現型アノテーション

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

• abnormal amino acid level_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0005332B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal social investigation_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0001360B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal miniature inhibitory postsynaptic currents_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0009435B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal gait_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0001406I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex
• abnormal behavior_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0004924B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal synaptic bouton morphology_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0008571B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal miniature excitatory postsynaptic currents_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0004753B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal symmetric synapse morphology_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0020361B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• impaired coordination_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0001405I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex
• abnormal gait_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0001406B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal synaptic vesicle number_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0004792B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal social investigation_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0001360I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex
• decreased vertical activity_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0002757I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex
• kyphosis_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0000160B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal amino acid metabolism_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0013242B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• excessive vocalization_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0013140B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• decreased vertical activity_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0002757B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal behavior_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0004924I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex
• abnormal translation_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0013272B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• short stride length_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0001407I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex
• hypoactivity_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0001402B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• impaired coordination_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0001405B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal amino acid metabolism_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0013242I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex
• short stride length_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0001407B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal miniature inhibitory postsynaptic currents_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0009435I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex
• abnormal amino acid level_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0005332I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex
• abnormal CNS synaptic transmission_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0002206B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal inhibitory synapse morphology_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0020358B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• abnormal circulating amino acid level_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0005311I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex
• limb grasping_Slc7a5<tm1.1Daca>/Slc7a5<tm1.1Daca>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0001513B6JCgSlc7a5tm11DacaTgTekcre12FlvSlc7a5tm11DacaSlc7a5tm11DacaTgTekcre12Flv0TgTekcre12FlvSlc7a5tm11Daca
• hypoactivity_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>
  http://metadb.riken.jp/0001402I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex