Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family-Reference-Cited by-同舟云学术

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

Published:2018-04-26 Issue:4 Volume:6 Page:666-672
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Caulfield Thomas R.¹²^ORCID,Richter John E.³,Brown Emily E.⁴,Mohammad Ahmed N.³^ORCID,Judge Daniel P.⁴⁵,Atwal Paldeep S.³^ORCID

Affiliation:

1. Department of Neuroscience; Mayo Clinic; Jacksonville FL USA

2. Mayo Graduate School; Neurobiology of Disease; Mayo Clinic; Jacksonville FL USA

3. Department of Clinical Genomics; Mayo Clinic; Jacksonville FL USA

4. Center for Inherited Heart Disease; Johns Hopkins University; Baltimore MD USA

5. Division of Cardiology; Medical University of South Carolina; Charleston SC USA

Funder

Mayo Clinic

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.401/fullpdf

Reference28 articles.

1. Optimization of peptide hydroxamate inhibitors of insulin-degrading enzyme reveals marked substrate-selectivity;Abdul-Hay;Journal of Medicinal Chemistry,2013

2. Gapped BLAST and PSI-BLAST: A new generation of protein database search programs;Altschul;Nucleic Acids Research,1997

3. The PINK1 p. I368N mutation affects protein stability and ubiquitin kinase activity;Ando;Molecular Neurodegeneration,2017

4. Inter-ring rotation of apolipoprotein A-I protein monomers for the double-belt model using biased molecular dynamics;Caulfield;Journal of Molecular Graphics and Modelling,2011

5. Motion of transfer RNA from the A/T state into the A-site using docking and simulations;Caulfield;Proteins,2012

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Growth restriction and congenital heart disease caused by a novel TAB2 mutation: A case report;Experimental and Therapeutic Medicine;2023-04-18

2. Expanding the phenotype of TAB2 variants and literature review;American Journal of Medical Genetics Part A;2022-08-16

3. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations;Human Mutation;2022-07-29

4. Study on Inflammatory Factors in Aneurysmal Perimembranous Ventricular Septal Defect in Congenital Heart Disease;BioMed Research International;2022-07-19

5. There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome;Gene;2022-03