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RESEARCH ARTICLE
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Disease Models & Mechanisms 2020 13: dmm041913 doi: 10.1242/dmm.041913 Published 26 May 2020
Kristin M. Ates
1Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
2Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Virginia Tech, Roanoke, VA 24016, USA
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Tong Wang
1Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
3JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
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Trevor Moreland
3JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
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Rajalakshmi Veeranan-Karmegam
4Department of Cellular Biology and Anatomy, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
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Manxiu Ma
1Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
2Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Virginia Tech, Roanoke, VA 24016, USA
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  • ORCID record for Manxiu Ma
Chelsi Jeter
3JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
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Priya Anand
5Institute of Nanotechnology, Karlsruhe Institute of Technology, 76021 Karlsruhe, Germany
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  • ORCID record for Priya Anand
Wolfgang Wenzel
5Institute of Nanotechnology, Karlsruhe Institute of Technology, 76021 Karlsruhe, Germany
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Hyung-Goo Kim
6Neurological Disorder Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar
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Lynne A. Wolfe
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
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  • ORCID record for Lynne A. Wolfe
Joshi Stephen
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
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  • ORCID record for Joshi Stephen
David R. Adams
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
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Thomas Markello
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
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  • ORCID record for Thomas Markello
Cynthia J. Tifft
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
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  • ORCID record for Cynthia J. Tifft
Robert Settlage
8Advanced Research Computing Unit, Division of Information Technology, Virginia Tech, Blacksburg, VA 24060, USA
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William A. Gahl
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
9National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA
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  • ORCID record for William A. Gahl
Graydon B. Gonsalvez
4Department of Cellular Biology and Anatomy, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
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  • ORCID record for Graydon B. Gonsalvez
May Christine Malicdan
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
9National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA
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  • ORCID record for May Christine Malicdan
Heather Flanagan-Steet
3JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
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  • ORCID record for Heather Flanagan-Steet
Y. Albert Pan
1Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
2Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Virginia Tech, Roanoke, VA 24016, USA
10Department of Biomedical Sciences and Pathobiology, Virginia-Maryland College of Veterinary Medicine, Virginia Tech, Blacksburg, VA 24060, USA
11Department of Psychiatry and Behavioral Medicine, Virginia Tech Carilion School of Medicine, Roanoke, VA 24016, USA
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  • For correspondence: yapan@vtc.vt.edu
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Keywords

  • PHETA1
  • IPIP27A
  • OCRL
  • Endocytosis
  • Undiagnosed disease

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RESEARCH ARTICLE
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Disease Models & Mechanisms 2020 13: dmm041913 doi: 10.1242/dmm.041913 Published 26 May 2020
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RESEARCH ARTICLE
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Disease Models & Mechanisms 2020 13: dmm041913 doi: 10.1242/dmm.041913 Published 26 May 2020

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