Genomic Variability in the Survival Motor Neuron Genes (

Genetic Therapy Genetic Variation Humans Molecular Targeted Therapy Muscular Atrophy, Spinal / genetics Survival of Motor Neuron 1 Protein / genetics Survival of Motor Neuron 2 Protein / genetics
SMN1 SMN2 copy number variation gene conversion hybrid gene modifier gene precision medicine spinal muscular atrophy therapeutics

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
23 Jul 2021
Historique:
received: 28 06 2021
revised: 14 07 2021
accepted: 21 07 2021
entrez: 7 8 2021
pubmed: 8 8 2021
medline: 17 8 2021
Statut: epublish

Résumé

Spinal muscular atrophy (SMA) is a leading genetic cause of infant death worldwide that is characterized by loss of spinal motor neurons leading to muscle weakness and atrophy. SMA results from the loss of

Identifiants

DOI: 10.3390/ijms22157896 PMID: 34360669 PMC: PMC8348669
pubmed: 34360669
pii: ijms22157896
doi: 10.3390/ijms22157896
pmc: PMC8348669
pii:
doi:

Substances chimiques

SMN1 protein, human 0
SMN2 protein, human 0
Survival of Motor Neuron 1 Protein 0
Survival of Motor Neuron 2 Protein 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Références

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Auteurs

Matthew E R Butchbach (MER)

Center for Applied Clinical Genomics, Nemours Children's Health Delaware, Wilmington, DE 19803, USA.
Center for Pediatric Research, Nemours Children's Health Delaware, Wilmington, DE 19803, USA.
Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA.
Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA.
ORCID: 0000-0003-2912-6400

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Classifications MeSH

questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Génie génétique › Thérapie génétique › Genomic Variability in the Survival Motor...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Genomic Variability in the Survival Motor...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genomic Variability in the Survival Motor...
questionsmedicales.fr › Thérapeutique › Traitement médicamenteux › Thérapie moléculaire ciblée › Genomic Variability in the Survival Motor...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies du motoneurone › Amyotrophie spinale › Genomic Variability in the Survival Motor...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéines du complexe SMN › Protéine-1 de survie du motoneurone › Genomic Variability in the Survival Motor...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéines du complexe SMN › Protéine-2 de survie du motoneurone › Genomic Variability in the Survival Motor...