Resistance of Acta2

Actins / genetics Animals Aorta / metabolism Aortic Diseases / genetics Chaperonin Containing TCP-1 / metabolism Mice Mice, Inbred C57BL Mutation, Missense Point Mutation
actin folding aortic disease smooth muscle actin

Journal

The Journal of biological chemistry
ISSN: 1083-351X
Titre abrégé: J Biol Chem
Pays: United States
ID NLM: 2985121R

Informations de publication

Date de publication:
12 2021
Historique:
received: 22 04 2021
revised: 12 09 2021
accepted: 21 09 2021
pubmed: 4 10 2021
medline: 29 1 2022
entrez: 3 10 2021
Statut: ppublish

Résumé

Pathogenic variants of the gene for smooth muscle α-actin (ACTA2), which encodes smooth muscle (SM) α-actin, predispose to heritable thoracic aortic disease. The ACTA2 variant p.Arg149Cys (R149C) is the most common alteration; however, only 60% of carriers have a dissection or undergo repair of an aneurysm by 70 years of age. A mouse model of ACTA2 p.Arg149Cys was generated using CRISPR/Cas9 technology to determine the etiology of reduced penetrance. Acta2

Identifiants

DOI: 10.1016/j.jbc.2021.101228 PMID: 34600884 PMC: PMC8633019
pubmed: 34600884
pii: S0021-9258(21)01031-0
doi: 10.1016/j.jbc.2021.101228
pmc: PMC8633019
pii:
doi:

Substances chimiques

Acta2 protein, mouse 0
Actins 0
Tcp1 protein, mouse 0
Chaperonin Containing TCP-1 EC 3.6.1.-

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

101228

Subventions

Organisme : NHLBI NIH HHS
ID : P01 HL110869
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL146583
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM120011
Pays : United States

Informations de copyright

Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Conflict of interest The authors declare that they have no conflicts of interest with the contents of this article.

Auteurs

Jiyuan Chen (J)

Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA.

Kaveeta Kaw (K)

Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA.

Hailong Lu (H)

Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, Vermont, USA.

Patricia M Fagnant (PM)

Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, Vermont, USA.

Abhijnan Chattopadhyay (A)

Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA.

Xue Yan Duan (XY)

Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA.

Zhen Zhou (Z)

Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA.

Shuangtao Ma (S)

Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA.

Zhenan Liu (Z)

Department of Physiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Jian Huang (J)

Department of Physiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Kristine Kamm (K)

Department of Physiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

James T Stull (JT)

Department of Physiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Callie S Kwartler (CS)

Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA.

Kathleen M Trybus (KM)

Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, Vermont, USA.

Dianna M Milewicz (DM)

Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA. Electronic address: Dianna.M.Milewicz@uth.tmc.edu.

Articles similaires

Evaluating the efficacy of telesurgery with dual console SSI Mantra Surgical Robotic System: experiment on animal model and clinical trials.

Sudhir Prem Srivastava, Vishwajyoti Pascual Srivastava, Avinesh Singh et al.
1.00
Robotic Surgical Procedures Animals Humans Telemedicine Models, Animal

Odour generalisation and detection dog training.

Lyn Caldicott, Thomas W Pike, Helen E Zulch et al.
1.00
Animals Odorants Dogs Generalization, Psychological Smell

FBXO22 inhibits colitis and colorectal carcinogenesis by regulating the degradation of the S2448-phosphorylated form of mTOR.

Minle Li, Xuan Chen, Pengfei Qu et al.
1.00
Animals TOR Serine-Threonine Kinases Colorectal Neoplasms Colitis Mice

Use of organic material provided by an automatic enrichment device by weaner pigs and its influence on tail lesions.

Philipp Heseker, Jeanette Probst, Stefanie Ammer et al.
1.00
Animals Tail Swine Behavior, Animal Animal Husbandry

Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines des microfilaments › Actines › Resistance of Acta2
questionsmedicales.fr › Eucaryotes › Animaux › Resistance of Acta2
questionsmedicales.fr › Système cardiovasculaire › Vaisseaux sanguins › Artères › Aorte › Resistance of Acta2
questionsmedicales.fr › Maladies cardiovasculaires › Maladies vasculaires › Maladies de l'aorte › Resistance of Acta2
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Chaperons moléculaires › Protéines du choc thermique › Chaperonines › Chaperonines du groupe II › Chaperonine contenant TCP-1 › Resistance of Acta2
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Resistance of Acta2
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Lignées consanguines de souris › Souris de lignée C57BL › Resistance of Acta2
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Resistance of Acta2
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation ponctuelle › Resistance of Acta2