Mutations inTAX1BP3Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia-Reference-Cited by-同舟云学术

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Mutations inTAX1BP3Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia

Published:2015-03-16 Issue:4 Volume:36 Page:439-442
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Reinstein Eyal¹²,Orvin Katia³,Tayeb-Fligelman Einav⁴,Stiebel-Kalish Hadas²⁵,Tzur Shay⁶,Pimienta Allen L.⁷,Bazak Lily¹,Bengal Tuvia³,Cohen Lior¹,Gaton Dan D.²⁵,Bormans Concetta⁸,Landau Meytal⁴,Kornowski Ran³,Shohat Mordechai¹²,Behar Doron M.⁸

Affiliation:

1. The Raphael Recanati Genetic Institute; Rabin Medical Center; Israel

2. Sackler School of Medicine; Tel Aviv University; Israel

3. Department of Cardiology; Rabin Medical Center; Israel

4. Department of Biology; Technion-Israel Institute of Technology; Haifa Israel

5. Department of Ophthalmology; Rabin Medical Center; Israel

6. Laboratory of Molecular Medicine; Rambam Health Care Campus; Haifa Israel

7. Faculty of Medicine; Technion-Israel Institute of Technology; Haifa Israel

8. Genomics Research Center; Gene by Gene; Houston Texas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22759/fullpdf

Reference23 articles.

1. TIP-1 has PDZ scaffold antagonist activity;Alewine;Mol Biol Cell,2006

2. Tip 1 induces filopodia growth and is important for gastrulation movements during zebrafish development;Besser;Dev Growth Differ,2007

3. I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure;Capriotti;Nucleic Acids Res.,2005

4. Prediction of protein stability changes for single-site mutations using support vector machines;Cheng;Proteins,2006

5. Predicting the functional effect of amino acid substitutions and indels;Choi;PLoS One,2012

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1. Tax1 binding protein 3 regulates osteogenic and adipogenic differentiation through inactivating Wnt/β‐catenin signalling;Journal of Cellular and Molecular Medicine;2023-03-09

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