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rdf:type
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Description
| - 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)
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Title
| - A restricted spectrum of NRAS mutations causes Noonan syndrome
- A restricted spectrum of NRAS mutations causes Noonan syndrome (en)
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skos:prefLabel
| - A restricted spectrum of NRAS mutations causes Noonan syndrome
- A restricted spectrum of NRAS mutations causes Noonan syndrome (en)
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skos:notation
| - RIV/00064203:_____/10:6438!RIV11-MZ0-00064203
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00064203:_____/10:6438
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - RAS PROTEINS; DISORDERS; CANCER; SWITCH; KRAS (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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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
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http://linked.open...ain/vavai/riv/wos
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issn
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number of pages
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