ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. (Q33531784)

27 July 2017

ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. (English)

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27 July 2017

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Gaynor Miller

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Paul Denny

object named as

Paul Denny

10

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Elizabeth M. C. Fisher

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object named as

Elizabeth M C Fisher

1 reference

27 July 2017

Monica Neilan

2

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27 July 2017

Ruth Chia

3

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27 July 2017

Nabeia Gheryani

4

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27 July 2017

Natalie Holt

5

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27 July 2017

Annabelle Charbit

6

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27 July 2017

Sara Wells

7

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27 July 2017

Valter Tucci

8

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27 July 2017

Zuzanne Lalanne

9

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27 July 2017

Michael Cheeseman

12

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27 July 2017

Graham N Askew

13

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27 July 2017

T Neil Dear

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27 July 2017

language of work or name

English

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publication date

9 February 2010

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27 July 2017

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27 July 2017

5

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2

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27 July 2017

e9137

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Creative Commons Attribution 4.0 International

27 July 2017

start time

9 February 2010

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Extracellular microfibrils in vertebrate development and disease processes

1 reference

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EuroPhenome and EMPReSS: online mouse phenotyping resource

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Appearances can be deceiving: phenotypes of knockout mice.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Marfan syndrome: clinical diagnosis and management

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

A gene-driven ENU-based approach to generating an allelic series in any gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Muscle fibrillin deficiency in Marfan's syndrome myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Regulation of limb patterning by extracellular microfibrils

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Mutation of the gene encoding fibrillin-2 results in syndactyly in mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Testing of SHIRPA, a mouse phenotypic assessment protocol, on Dmd(mdx) and Dmd(mdx3cv) dystrophin-deficient mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: New entity?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Congenital contractural arachnodactyly (Beals syndrome).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Thermal dependence of contractile properties of skeletal muscle from the lizard Sceloporus occidentalis with comments on methods for fitting and comparing force-velocity curves.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Bone and soft connective tissue alterations result from loss of fibrillin-2 expression.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Estimating the number of coding mutations in genotypic and phenotypic driven N-ethyl-N-nitrosourea (ENU) screens: revisited.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Spectrum of ENU-induced mutations in phenotype-driven and gene-driven screens in the mouse.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Introducing the German Mouse Clinic: open access platform for standardized phenotyping.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Distribution of the elastic fiber and associated proteins in flexor tendon reflects function

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817753

Muscle strength and body composition in adult women with Marfan syndrome

31 October 2018

1 reference

12 December 2020

Reaching and grasping phenotypes in the mouse (Mus musculus): a characterization of inbred strains and mutant lines

1 reference

12 December 2020

Mapping of the porcine FBN2, YWHAQ, CNN3, DCN, POSTN, SPARC, RBM39 and GNAS genes, expressed in foetal skeletal muscles

1 reference

12 December 2020

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

1 reference

12 December 2020

The effects of length trajectory on the mechanical power output of mouse skeletal muscles

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0009137

Identifiers

DOI

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27 July 2017

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27 July 2017

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