(Q30574056)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

NF1 is a critical regulator of muscle development and metabolism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Nikita Deo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Fleur C Garton

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jane T Seto

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Nigel Turner

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Kathryn North

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

9

Gregory J Cooney

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Kate Sullivan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jad El-Hoss

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Marie Gdalevitch

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Mateusz Kolanczyk

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

David G Little

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Aaron Schindeler

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

publication date

24 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

1250-1259

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

Peripheral muscle weakness in RASopathies

28 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

The musculoskeletal phenotype of the RASopathies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Neurofibromin (Nf1) is required for skeletal muscle development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Motor proficiency in children with neurofibromatosis type 1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast and ETEA in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Double inactivation of NF1 in tibial pseudarthrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Botox induced muscle paralysis rapidly degrades bone

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Neurofibromatosis 1: clinical manifestations and diagnostic criteria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Neurofibromas in NF1: Schwann cell origin and role of tumor environment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

Decreased bone mineral density in patients with neurofibromatosis 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

Neurofibromatosis type 1: motor and cognitive function and T2-weighted MRI hyperintensities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

Deterioration of fracture healing in the mouse model of NF1 long bone dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

Hyperactive transforming growth factor-β1 signaling potentiates skeletal defects in a neurofibromatosis type 1 mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

Increased OXPHOS activity precedes rise in glycolytic rate in H-RasV12/E1A transformed fibroblasts that develop a Warburg phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT515

Muscular force is reduced in neurofibromatosis type 1.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Case-control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomography.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954124

Decreased bone mineral density in neurofibromatosis type 1: results from a pediatric cohort

26 November 2018

1 reference

12 December 2020

Models of tibial fracture healing in normal and Nf1-deficient mice

1 reference

12 December 2020

Expression of Cre recombinase in the developing mouse limb bud driven by aPrxl enhancer

1 reference

12 December 2020

Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation

1 reference

12 December 2020

MyoD-cre transgenic mice: a model for conditional mutagenesis and lineage tracing of skeletal muscle

1 reference

12 December 2020

Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning

1 reference

12 December 2020

Validation of an automated computational method for skeletal muscle fibre morphometry analysis

1 reference

12 December 2020

A murine model of neurofibromatosis type 1 tibial pseudarthrosis featuring proliferative fibrous tissue and osteoclast-like cells

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDT515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163128%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference