Etiology of craniofacial and cardiac malformations in a mouse model of

Animals Mice RNA Splicing Factors / genetics Neural Crest / metabolism Heart Defects, Congenital / genetics Disease Models, Animal Craniofacial Abnormalities / genetics RNA Splicing Exons / genetics Humans
RNAseq Sf3b4 craniofacial mouse model splicing

Journal

Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876

Informations de publication

Date de publication:
24 Sep 2024
Historique:
medline: 18 9 2024
pubmed: 18 9 2024
entrez: 18 9 2024
Statut: ppublish

Résumé

Pathogenic variants in SF3B4, a component of the U2 snRNP complex important for branchpoint sequence recognition and splicing, are responsible for the acrofacial disorders Nager and Rodriguez Syndrome, also known as

Identifiants

DOI: 10.1073/pnas.2405523121 PMID: 39292749
pubmed: 39292749
doi: 10.1073/pnas.2405523121
doi:

Substances chimiques

RNA Splicing Factors 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e2405523121

Subventions

Organisme : Canadian Government | Canadian Institutes of Health Research (CIHR)
ID : 202203PJT-480346-DEV-CFAC-157303
Organisme : Azrieli Foundation (La Fondation Azrieli)
ID : N/A

Déclaration de conflit d'intérêts

Competing interests statement:The authors declare no competing interest.

Auteurs

Shruti Kumar (S)

Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.
ORCID: 0009-0000-2181-4319

Eric Bareke (E)

Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.

Jimmy Lee (J)

Division of Experimental Medicine, Faculty of Medicine, McGill University, Montreal, QC H3A 0G1, Canada.

Emma Carlson (E)

Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.

Fjodor Merkuri (F)

Department of Biological Sciences, University of Massachusetts Lowell, Lowell, MA 01854.

Evelyn E Schwager (EE)

Department of Biological Sciences, University of Massachusetts Lowell, Lowell, MA 01854.

Steven Maglio (S)

Department of Biological Sciences, University of Massachusetts Lowell, Lowell, MA 01854.

Jennifer L Fish (JL)

Department of Biological Sciences, University of Massachusetts Lowell, Lowell, MA 01854.

Jacek Majewski (J)

Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.

Loydie A Jerome-Majewska (LA)

Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.
Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 2B2, Canada.
Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
Child Health and Human Development Program, Research Institute of the McGill University Health Centre at Glen Site, Montreal, QC H4A 3J1, Canada.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Etiology of craniofacial and cardiac...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Etiology of craniofacial and cardiac...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Facteurs d'épissage des ARN › Etiology of craniofacial and cardiac...
questionsmedicales.fr › Structures de l'embryon › Crête neurale › Etiology of craniofacial and cardiac...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Cardiopathies congénitales › Etiology of craniofacial and cardiac...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Etiology of craniofacial and cardiac...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil locomoteur › Malformations crâniofaciales › Etiology of craniofacial and cardiac...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Maturation post-transcriptionnelle des ARN › Épissage des ARN › Etiology of craniofacial and cardiac...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › Etiology of craniofacial and cardiac...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Etiology of craniofacial and cardiac...