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  • Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced stimulus-dependent MAPK activation account for some cases of this disorder. These findings provide evidence for an obligate dependency on proper NRAS function in human development and growth.
  • Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced stimulus-dependent MAPK activation account for some cases of this disorder. These findings provide evidence for an obligate dependency on proper NRAS function in human development and growth. (en)
Title
  • A restricted spectrum of NRAS mutations causes Noonan syndrome
  • A restricted spectrum of NRAS mutations causes Noonan syndrome (en)
skos:prefLabel
  • A restricted spectrum of NRAS mutations causes Noonan syndrome
  • A restricted spectrum of NRAS mutations causes Noonan syndrome (en)
skos:notation
  • RIV/00064203:_____/10:6438!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • V
http://linked.open...iv/cisloPeriodika
  • 1
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  • 244921
http://linked.open...ai/riv/idVysledku
  • RIV/00064203:_____/10:6438
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • RAS PROTEINS; DISORDERS; CANCER; SWITCH; KRAS (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [5890EBE89C42]
http://linked.open...i/riv/nazevZdroje
  • Nature Genetics
http://linked.open...in/vavai/riv/obor
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http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 42
http://linked.open...iv/tvurceVysledku
  • Seemanová, Eva
  • Mundlos, Stefan
  • Zenker, Martin
  • Ahmadian, Mohammad R.
  • Carta, Claudio
  • Cirstea, Ion C.
  • Dallapiccola, Bruno
  • Dentici, Maria L.
  • Digilio, Cristina
  • Dvorsky, Radovan
  • Gelb, Bruce D
  • Gremer, Lothar
  • Horn, Denise
  • Joshi, Victoria A.
  • Koenig, Rainer
  • Kratz, Christian P
  • Kucherlapati, Raju S
  • Kutsche, Kerstin
  • Lepri, Francesca
  • Mazzanti, Laura
  • Merbitz-Zahradnik, Torst
  • Pantaleoni, Francesca
  • Patton, Michael A.
  • Pennacchio, Len
  • Roberts, Amy E
  • Rossi, Cesare
  • Silengo, Margherita C
  • Stuppia, Liborio
  • Tartaglia, Marco
  • Wittinghofer, Alfred
  • Zampino, Giuseppe
http://linked.open...ain/vavai/riv/wos
  • 000273055100012
issn
  • 1061-4036
number of pages
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