Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (Q52000174)

19 April 2018

title

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (English)

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19 April 2018

Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

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corrigendum / erratum

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12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/NG0207-276A

author

Marco Tartaglia

1

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Claudio Carta

14

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Francesca Lepri

15

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Bruno Dallapiccola

23

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Dafna Bar-Sagi

24

Dafna Bar-Sagi

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2

Len A Pennacchio

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Valentina Fodale

5

Valentina Fodale

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Juan Pedro López Siguero

20

Juan Pedro López Siguero

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Wendy Schackwitz

10

Wendy Schackwitz

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Anna Ustaszewska

11

Anna Ustaszewska

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Bhaswati Pandit

7

Bhaswati Pandit

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Isabella Vasta

17

Isabella Vasta

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Cinzia Neri

16

Cinzia Neri

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author name string

Chen Zhao

3

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Kamlesh K Yadav

4

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Anna Sarkozy

6

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Kimihiko Oishi

8

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Simone Martinelli

9

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Joel Martin

12

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James Bristow

13

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Kate Gibson

18

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Cynthia J Curry

19

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Maria Cristina Digilio

21

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Giuseppe Zampino

22

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language of work or name

English

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publication date

13 December 2006

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19 April 2018

published in

Nature Genetics

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volume

39

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issue

1

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page(s)

75-79

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Hypertelorism With Turner Phenotype

cites work

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Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

21 January 2018

1 reference

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation

21 January 2018

1 reference

Germline KRAS mutations cause Noonan syndrome

21 January 2018

1 reference

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

21 January 2018

1 reference

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

21 January 2018

1 reference

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes

21 January 2018

1 reference

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

21 January 2018

1 reference

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

21 January 2018

1 reference

PTPN11 mutations in LEOPARD syndrome

21 January 2018

1 reference

Germline mutations in HRAS proto-oncogene cause Costello syndrome

21 January 2018

1 reference

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

21 January 2018

1 reference

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

21 January 2018

1 reference

Regulation of Sos activity by intramolecular interactions

21 January 2018

1 reference

Computational docking and solution x-ray scattering predict a membrane-interacting role for the histone domain of the Ras activator son of sevenless

21 January 2018

1 reference

Structural analysis of autoinhibition in the Ras activator Son of sevenless

21 January 2018

1 reference

Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS

21 January 2018

1 reference

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1

21 January 2018

1 reference

The Sos1 and Sos2 Ras-specific exchange factors: differences in placental expression and signaling properties

21 January 2018

1 reference

Mutation in Sos1 dominantly enhances a weak allele of the EGFR, demonstrating a requirement for Sos1 in EGFR signaling and development

21 January 2018

1 reference

The EGF receptor provides an essential survival signal for SOS-dependent skin tumor development

21 January 2018

1 reference

Increasing complexity of the Ras signaling pathway

21 January 2018

1 reference

Coupling of Ras and Rac guanosine triphosphatases through the Ras exchanger Sos.

21 January 2018

1 reference

Identification of murine homologues of the Drosophila son of sevenless gene: potential activators of ras

21 January 2018

1 reference

Differential interactions of human Sos1 and Sos2 with Grb2

21 January 2018

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Detecting polymorphisms and mutations in candidate genes

21 January 2018

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A clinical study of Noonan syndrome

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/NG1939

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19 April 2018

Dimensions Publication ID

1016380417

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19 April 2018