(Q36598570)

15 August 2017

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype (English)

1 reference

15 August 2017

1 reference

M Koenighofer

1

1 reference

15 August 2017

C Y Hung

2

1 reference

15 August 2017

J L McCauley

3

1 reference

15 August 2017

J Dallman

4

1 reference

15 August 2017

E J Back

5

1 reference

15 August 2017

I Mihalek

6

1 reference

15 August 2017

K W Gripp

7

1 reference

15 August 2017

K Sol-Church

8

1 reference

15 August 2017

P Rusconi

9

1 reference

15 August 2017

Z Zhang

10

1 reference

15 August 2017

G-X Shi

11

1 reference

15 August 2017

D A Andres

12

1 reference

15 August 2017

O A Bodamer

13

1 reference

15 August 2017

9 May 2015

1 reference

15 August 2017

1 reference

15 August 2017

89

1 reference

15 August 2017

3

1 reference

15 August 2017

359-366

1 reference

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

Next-generation sequencing identifies rare variants associated with Noonan syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

Regulation of small GTPases by GEFs, GAPs, and GDIs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

An evolutionarily conserved Rit GTPase-p38 MAPK signaling pathway mediates oxidative stress resistance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

Elk-1 a transcription factor with multiple facets in the brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

Further evidence of the importance of RIT1 in Noonan syndrome.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760689

20 September 2018

Identifiers

DOI

10.1111/CGE.12608

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

25959749

1 reference