Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies (Q89054707)

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30 March 2020

title

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies (English)

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Silvio Alessandro Di Gioia

30 March 2020

author

1

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author name string

Sherin Shaaban

2

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30 March 2020

Beyhan Tüysüz

3

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Nursel H Elcioglu

4

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Wai-Man Chan

5

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Caroline D Robson

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Kirsten Ecklund

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Nicole M Gilette

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Azmi Hamzaoglu

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Gulsen Akay Tayfun

10

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Elias I Traboulsi

11

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Elizabeth C Engle

12

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publication date

7 June 2018

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American Journal of Human Genetics

30 March 2020

published in

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volume

103

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issue

1

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page(s)

115-124

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Targeted inactivation of the muscle regulatory gene Myf-5 results in abnormal rib development and perinatal death

30 March 2020

cites work

1 reference

12 December 2020

Transcriptional activation domain of the muscle-specific gene-regulatory protein myf5.

1 reference

12 December 2020

Two nuclear localization signals present in the basic-helix 1 domains of MyoD promote its active nuclear translocation and can function independently

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12 December 2020

Crystal structure of MyoD bHLH domain-DNA complex: perspectives on DNA recognition and implications for transcriptional activation

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12 December 2020

MyoD or Myf-5 is required for the formation of skeletal muscle

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12 December 2020

Muscles of a different 'color': the unusual properties of the extraocular muscles may predispose or protect them in neurogenic and myogenic disease

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12 December 2020

Muscle progenitor cells failing to respond to positional cues adopt non-myogenic fates in myf-5 null mice

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12 December 2020

Redefining the genetic hierarchies controlling skeletal myogenesis: Pax-3 and Myf-5 act upstream of MyoD.

1 reference

12 December 2020

External ophthalmoplegia in neuromuscular disorders: case report and review of the literature

1 reference

12 December 2020

DifferentMRF4Knockout Alleles Differentially Disrupt Myf-5 Expression:cis-Regulatory Interactions at theMRF4/Myf-5Locus

1 reference

12 December 2020

The Basic Domain of Myogenic Basic Helix-Loop-Helix (bHLH) Proteins Is the Novel Target for Direct Inhibition by Another bHLH Protein, Twist

1 reference

12 December 2020

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

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12 December 2020

Mutations in the human TWIST gene

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12 December 2020

Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

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12 December 2020

Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles

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12 December 2020

Myf-5 revisited: loss of early myotome formation does not lead to a rib phenotype in homozygous Myf-5 mutant mice

1 reference

12 December 2020

Early myotome specification regulates PDGFA expression and axial skeleton development.

1 reference

12 December 2020

Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome

1 reference

12 December 2020

A downstream regulatory element located within the coding sequence mediates autoregulated expression of the yeast fatty acid synthase gene FAS2 by the FAS1 gene product

1 reference

12 December 2020

Mrf4 determines skeletal muscle identity in Myf5:Myod double-mutant mice

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12 December 2020

A transcriptional regulatory element in the coding sequence of the human Bcl-2 gene.

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12 December 2020

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

1 reference

12 December 2020

A 23-amino acid motif spanning the basic domain targets zebrafish myogenic regulatory factor myf5 into nucleolus

1 reference

12 December 2020

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

1 reference

12 December 2020

MyoD synergizes with the E-protein HEB beta to induce myogenic differentiation.

1 reference

12 December 2020

Distinct regulatory cascades govern extraocular and pharyngeal arch muscle progenitor cell fates

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12 December 2020

Human genetic disorders of axon guidance

1 reference

12 December 2020

Evidence for a myotomal Hox/Myf cascade governing nonautonomous control of rib specification within global vertebral domains.

1 reference

12 December 2020

Human disorders of axon guidance

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12 December 2020

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

1 reference

12 December 2020

Tissue-specific epigenetics in gene neighborhoods: myogenic transcription factor genes

1 reference

12 December 2020

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

1 reference

12 December 2020

Novel RNA-binding activity of MYF5 enhances Ccnd1/Cyclin D1 mRNA translation during myogenesis

1 reference

12 December 2020

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy

1 reference

12 December 2020

Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle.

1 reference

12 December 2020

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

1 reference

12 December 2020

10.1016/J.AJHG.2018.05.003

Identifiers

DOI

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PubMed publication ID

29887215

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