Xue. Wu, et.al., Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants., Molecular and cellular biology, 2012, 32

http://rdf.ncbi.nlm.nih.gov/pubmed/22826437

Xue. Wu, et.al., Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants., Molecular and cellular biology, 2012, 32

pubmed

allele

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

• Raf1<tm2Ara>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5495664
• Raf1<tm2.1Ara>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5445964

表現型アノテーション

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

• enlarged myocardial fiber_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0004564I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• increased cardiac muscle contractility_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0005599I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• ruffled hair_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0000420I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• decreased cranium width_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0008526I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• decreased body length_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0001258I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• decreased body weight_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0001262I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• abnormal heart left ventricle morphology_Raf1<tm1.1Bgn>/Raf1<+>
  http://metadb.riken.jp/0003921I129S6SvEvTacC57BL6NCrRaf1tm11BgnRaf1Raf1tm11BgnRaf1
• cardiac hypertrophy_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0001625I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• abnormal cranium size_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0010031I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• increased cardiac output_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0003394I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• increased cardiac stroke volume_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0011951I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• increased cardiac output_Raf1<tm1.1Bgn>/Raf1<+>
  http://metadb.riken.jp/0003394I129S6SvEvTacC57BL6NCrRaf1tm11BgnRaf1Raf1tm11BgnRaf1
• hunched posture_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0001505I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• premature death_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0002083I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• tremors_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0000745I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• increased heart weight_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0002833I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• abnormal heart left ventricle morphology_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0003921I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• increased cardiac stroke volume_Raf1<tm1.1Bgn>/Raf1<+>
  http://metadb.riken.jp/0011951I129S6SvEvTacC57BL6NCrRaf1tm11BgnRaf1Raf1tm11BgnRaf1
• decreased body length_Raf1<tm2.1Ara>/Raf1<+>
  http://metadb.riken.jp/0001258I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1Raf1tm21AraRaf1
• enlarged heart_Raf1<tm2.1Ara>/Raf1<tm2.1Ara>
  http://metadb.riken.jp/0000274I129S6SvEvTacC57BL6NCrRaf1tm21AraRaf1tm21AraRaf1tm21Ara
• increased cardiac muscle contractility_Raf1<tm1.1Bgn>/Raf1<+>
  http://metadb.riken.jp/0005599I129S6SvEvTacC57BL6NCrRaf1tm11BgnRaf1Raf1tm11BgnRaf1

class

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

• Raf1<tm2Ara>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5495664
• Raf1<tm2.1Ara>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5445964