Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly.

Animals Mice Ebstein Anomaly / genetics Extracellular Matrix Extracellular Matrix Proteins Laminin / genetics Tricuspid Valve
Ebstein’s anomaly LAMA3 basement membrane extracellular matrix family sequencing

Journal

HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885

Informations de publication

Date de publication:
12 10 2023
Historique:
received: 27 03 2023
accepted: 26 07 2023
medline: 29 8 2023
pubmed: 28 8 2023
entrez: 28 8 2023
Statut: epublish

Résumé

Ebstein's anomaly is a rare congenital heart disease characterized by tricuspid valve downward displacement and is associated with additional cardiac phenotypes such as left ventricle non-compaction. The genetic basis of Ebstein's anomaly has yet to be fully elucidated, although several genes (e.g.,

Identifiants

DOI: 10.1016/j.xhgg.2023.100227 PMID: 37635785 PMC: PMC10450520
pubmed: 37635785
doi: 10.1016/j.xhgg.2023.100227
pii: S2666-2477(23)00059-3
pmc: PMC10450520
doi:

Substances chimiques

Extracellular Matrix Proteins 0
Laminin 0
laminin alpha 3 170834-93-2

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

100227

Informations de copyright

© 2023 The Author(s).

Déclaration de conflit d'intérêts

The authors declare no competing interests.

Références

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Auteurs

Zhou Zhou (Z)

Department of Laboratory Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, P.R. China.

Xumei Huang (X)

Department of Cardiovascular Diseases, Wenzhou Central Hospital, Wenzhou, Zhejiang 325000, P.R. China.

Xia Tang (X)

State Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200433, P.R. China.

Wen Chen (W)

Department of Laboratory Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, P.R. China.

Qianlong Chen (Q)

Department of Laboratory Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, P.R. China.

Chaohui Zhang (C)

Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan 453003, P.R. China.

Yuxin Li (Y)

Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan 453003, P.R. China.

Dachun Zhao (D)

Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, P.R. China.

Zhe Zheng (Z)

Department of Laboratory Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, P.R. China.

Shengshou Hu (S)

Department of Laboratory Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, P.R. China.

Jikui Wang (J)

Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan 453003, P.R. China.

Iftikhar J Kullo (IJ)

Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55905, USA.

Keyue Ding (K)

Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55905, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Heterozygous nonsense variants in laminin...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Heterozygous nonsense variants in laminin...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Cardiopathies congénitales › Maladie d'Ebstein › Heterozygous nonsense variants in laminin...
questionsmedicales.fr › Cellules › Structures cellulaires › Espace extracellulaire › Matrice extracellulaire › Heterozygous nonsense variants in laminin...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Scléroprotéines › Protéines de la matrice extracellulaire › Heterozygous nonsense variants in laminin...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Scléroprotéines › Protéines de la matrice extracellulaire › Laminine › Heterozygous nonsense variants in laminin...
questionsmedicales.fr › Système cardiovasculaire › Coeur › Valves cardiaques › Valve atrioventriculaire droite › Heterozygous nonsense variants in laminin...