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A restricted spectrum of NRAS mutations causes Noonan syndrome.

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A restricted spectrum of NRAS mutations causes Noonan syndrome. / Cirstea, Ion C; Kutsche, Kerstin; Dvorsky, Radovan; Gremer, Lothar; Carta, Claudio; Horn, Denise; Roberts, Amy E; Lepri, Francesca; Merbitz-Zahradnik, Torsten; König, Rainer; Kratz, Christian P; Pantaleoni, Francesca; Dentici, Maria L; Joshi, Victoria A; Kucherlapati, Raju S; Mazzanti, Laura; Mundlos, Stefan; Patton, Michael A; Silengo, Margherita Cirillo; Rossi, Cesare; Zampino, Giuseppe; Digilio, Cristina; Stuppia, Liborio; Seemanova, Eva; Pennacchio, Len A; Gelb, Bruce D; Dallapiccola, Bruno; Wittinghofer, Alfred; Ahmadian, Mohammad R; Tartaglia, Marco; Zenker, Martin.

in: NAT GENET, Jahrgang 42, Nr. 1, 1, 2010, S. 27-29.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Cirstea, IC, Kutsche, K, Dvorsky, R, Gremer, L, Carta, C, Horn, D, Roberts, AE, Lepri, F, Merbitz-Zahradnik, T, König, R, Kratz, CP, Pantaleoni, F, Dentici, ML, Joshi, VA, Kucherlapati, RS, Mazzanti, L, Mundlos, S, Patton, MA, Silengo, MC, Rossi, C, Zampino, G, Digilio, C, Stuppia, L, Seemanova, E, Pennacchio, LA, Gelb, BD, Dallapiccola, B, Wittinghofer, A, Ahmadian, MR, Tartaglia, M & Zenker, M 2010, 'A restricted spectrum of NRAS mutations causes Noonan syndrome.', NAT GENET, Jg. 42, Nr. 1, 1, S. 27-29. <http://www.ncbi.nlm.nih.gov/pubmed/19966803?dopt=Citation>

APA

Cirstea, I. C., Kutsche, K., Dvorsky, R., Gremer, L., Carta, C., Horn, D., Roberts, A. E., Lepri, F., Merbitz-Zahradnik, T., König, R., Kratz, C. P., Pantaleoni, F., Dentici, M. L., Joshi, V. A., Kucherlapati, R. S., Mazzanti, L., Mundlos, S., Patton, M. A., Silengo, M. C., ... Zenker, M. (2010). A restricted spectrum of NRAS mutations causes Noonan syndrome. NAT GENET, 42(1), 27-29. [1]. http://www.ncbi.nlm.nih.gov/pubmed/19966803?dopt=Citation

Vancouver

Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. NAT GENET. 2010;42(1):27-29. 1.

Bibtex

@article{93885df8ebb84a19854870ea892b9ff4,
title = "A restricted spectrum of NRAS mutations causes Noonan syndrome.",
abstract = "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.",
author = "Cirstea, {Ion C} and Kerstin Kutsche and Radovan Dvorsky and Lothar Gremer and Claudio Carta and Denise Horn and Roberts, {Amy E} and Francesca Lepri and Torsten Merbitz-Zahradnik and Rainer K{\"o}nig and Kratz, {Christian P} and Francesca Pantaleoni and Dentici, {Maria L} and Joshi, {Victoria A} and Kucherlapati, {Raju S} and Laura Mazzanti and Stefan Mundlos and Patton, {Michael A} and Silengo, {Margherita Cirillo} and Cesare Rossi and Giuseppe Zampino and Cristina Digilio and Liborio Stuppia and Eva Seemanova and Pennacchio, {Len A} and Gelb, {Bruce D} and Bruno Dallapiccola and Alfred Wittinghofer and Ahmadian, {Mohammad R} and Marco Tartaglia and Martin Zenker",
year = "2010",
language = "Deutsch",
volume = "42",
pages = "27--29",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "1",

}

RIS

TY - JOUR

T1 - A restricted spectrum of NRAS mutations causes Noonan syndrome.

AU - Cirstea, Ion C

AU - Kutsche, Kerstin

AU - Dvorsky, Radovan

AU - Gremer, Lothar

AU - Carta, Claudio

AU - Horn, Denise

AU - Roberts, Amy E

AU - Lepri, Francesca

AU - Merbitz-Zahradnik, Torsten

AU - König, Rainer

AU - Kratz, Christian P

AU - Pantaleoni, Francesca

AU - Dentici, Maria L

AU - Joshi, Victoria A

AU - Kucherlapati, Raju S

AU - Mazzanti, Laura

AU - Mundlos, Stefan

AU - Patton, Michael A

AU - Silengo, Margherita Cirillo

AU - Rossi, Cesare

AU - Zampino, Giuseppe

AU - Digilio, Cristina

AU - Stuppia, Liborio

AU - Seemanova, Eva

AU - Pennacchio, Len A

AU - Gelb, Bruce D

AU - Dallapiccola, Bruno

AU - Wittinghofer, Alfred

AU - Ahmadian, Mohammad R

AU - Tartaglia, Marco

AU - Zenker, Martin

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

M3 - SCORING: Zeitschriftenaufsatz

VL - 42

SP - 27

EP - 29

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 1

M1 - 1

ER -