(Q34664172)

3 August 2017

title

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype (English)

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3 August 2017

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7

Riet Somers

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Jan Cools

object named as

Jan Cools

11

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Ludwine Messiaen

8

object named as

Ludwine Messiaen

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3 August 2017

2

Magdalena Chmara

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3 August 2017

10

Jean-Pierre Fryns

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3 August 2017

Hilde Brems

1

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3 August 2017

Mourad Sahbatou

3

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3 August 2017

Ellen Denayer

4

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3 August 2017

Koji Taniguchi

5

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3 August 2017

Reiko Kato

6

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3 August 2017

Sofie De Schepper

9

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3 August 2017

Peter Marynen

12

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3 August 2017

Gilles Thomas

13

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3 August 2017

Akihiko Yoshimura

14

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3 August 2017

Eric Legius

15

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3 August 2017

language of work or name

English

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publication date

19 August 2007

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3 August 2017

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3 August 2017

volume

39

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3 August 2017

issue

9

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3 August 2017

page(s)

1120-1126

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https://scigraph.springernature.com/pub.10.1038/ng2113

3 August 2017

exact match

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cites work

The VASP-Spred-Sprouty domain puzzle

1 reference

Spred is a Sprouty-related suppressor of Ras signalling

21 January 2018

1 reference

Stops along the RAS pathway in human genetic disease

21 January 2018

1 reference

NF1 tumor suppressor gene function: narrowing the GAP

21 January 2018

1 reference

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

21 January 2018

1 reference

Germline KRAS mutations cause Noonan syndrome

21 January 2018

1 reference

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

21 January 2018

1 reference

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

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

Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?

21 January 2018

1 reference

21 January 2018

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Expression and subcellular localization of Spred proteins in mouse and human tissues

21 January 2018

1 reference

Spred-1 negatively regulates allergen-induced airway eosinophilia and hyperresponsiveness

21 January 2018

1 reference

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

21 January 2018

1 reference

Spreds are essential for embryonic lymphangiogenesis by regulating vascular endothelial growth factor receptor 3 signaling

21 January 2018

1 reference

Identification of a dominant negative mutant of Sprouty that potentiates fibroblast growth factor- but not epidermal growth factor-induced ERK activation

21 January 2018

1 reference

21 January 2018

1 reference

7 January 2021

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

1 reference

7 January 2021

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

7 January 2021

ERK phosphorylation potentiates Elk-1-mediated ternary complex formation and transactivation

1 reference

7 January 2021

Distinct requirements for the Sprouty domain for functional activity of Spred proteins

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG2113

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Dimensions Publication ID

3 August 2017

1018364689

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