Identification of a Novel Frameshift Variant in

Humans Frameshift Mutation / genetics Male Female Myogenic Regulatory Factor 5 / genetics Ophthalmoplegia / genetics Ribs / abnormalities Pedigree Spine / abnormalities Child Homozygote
MYF5 external ophthalmoplegia external ophthalmoplegia with vertebral and rib anomalies (EORVA) myogenic factor 5 myogenic transcription factors rib anomalies scoliosis

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
27 May 2024
Historique:
received: 28 04 2024
revised: 16 05 2024
accepted: 25 05 2024
medline: 27 6 2024
pubmed: 27 6 2024
entrez: 27 6 2024
Statut: epublish

Résumé

Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The

Identifiants

DOI: 10.3390/genes15060699 PMID: 38927634
pubmed: 38927634
pii: genes15060699
doi: 10.3390/genes15060699
pii:
doi:

Substances chimiques

Myogenic Regulatory Factor 5 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Wellcome Trust
ID : 205174/Z/16/Z
Pays : United Kingdom

Auteurs

Paulina Ocieczek (P)

Moorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.
UCL Institute of Ophthalmology, London EC1V 9EL, UK.

Ngozi Oluonye (N)

Moorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.
Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 9JH, UK.

Cécile Méjécase (C)

UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Francis Crick Institute, London NW1 1AT, UK.
ORCID: 0000-0003-2532-4004

Elena Schiff (E)

Moorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.
ORCID: 0000-0002-9848-1302

Vijay Tailor (V)

Moorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.
UCL Institute of Ophthalmology, London EC1V 9EL, UK.
ORCID: 0000-0002-1254-3462

Mariya Moosajee (M)

Moorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.
UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 9JH, UK.
Francis Crick Institute, London NW1 1AT, UK.
ORCID: 0000-0003-1688-5360

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Identification of a Novel Frameshift Variant in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation avec décalage du cadre de lecture › Identification of a Novel Frameshift Variant in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs de transcription à motif basique hélice-boucle-hélice › Facteurs de régulation myogènes › Facteur-5 de régulation myogène › Identification of a Novel Frameshift Variant in
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Paralysie › Ophtalmoplégie › Identification of a Novel Frameshift Variant in
questionsmedicales.fr › Appareil locomoteur › Squelette › Cage thoracique › Côtes › Identification of a Novel Frameshift Variant in
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Identification of a Novel Frameshift Variant in
questionsmedicales.fr › Appareil locomoteur › Squelette › Rachis › Identification of a Novel Frameshift Variant in
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Identification of a Novel Frameshift Variant in
questionsmedicales.fr › Phénomènes génétiques › Génotype › Homozygote › Identification of a Novel Frameshift Variant in