Skip to main content
  • Submit
  • About
    • Editorial Board
    • PNAS Staff
    • FAQ
    • Accessibility Statement
    • Rights and Permissions
    • Site Map
  • Contact
  • Journal Club
  • Subscribe
    • Subscription Rates
    • Subscriptions FAQ
    • Open Access
    • Recommend PNAS to Your Librarian
  • Log in
  • My Cart

Main menu

  • Home
  • Articles
    • Current
    • Special Feature Articles - Most Recent
    • Special Features
    • Colloquia
    • Collected Articles
    • PNAS Classics
    • List of Issues
  • Front Matter
  • News
    • For the Press
    • This Week In PNAS
    • PNAS in the News
  • Podcasts
  • Authors
    • Information for Authors
    • Editorial and Journal Policies
    • Submission Procedures
    • Fees and Licenses
  • Submit
  • About
    • Editorial Board
    • PNAS Staff
    • FAQ
    • Accessibility Statement
    • Rights and Permissions
    • Site Map
  • Contact
  • Journal Club
  • Subscribe
    • Subscription Rates
    • Subscriptions FAQ
    • Open Access
    • Recommend PNAS to Your Librarian

User menu

  • Log in
  • My Cart

Search

  • Advanced search
Home
Home

Advanced Search

  • Home
  • Articles
    • Current
    • Special Feature Articles - Most Recent
    • Special Features
    • Colloquia
    • Collected Articles
    • PNAS Classics
    • List of Issues
  • Front Matter
  • News
    • For the Press
    • This Week In PNAS
    • PNAS in the News
  • Podcasts
  • Authors
    • Information for Authors
    • Editorial and Journal Policies
    • Submission Procedures
    • Fees and Licenses

New Research In

Physical Sciences

Featured Portals

  • Physics
  • Chemistry
  • Sustainability Science

Articles by Topic

  • Applied Mathematics
  • Applied Physical Sciences
  • Astronomy
  • Computer Sciences
  • Earth, Atmospheric, and Planetary Sciences
  • Engineering
  • Environmental Sciences
  • Mathematics
  • Statistics

Social Sciences

Featured Portals

  • Anthropology
  • Sustainability Science

Articles by Topic

  • Economic Sciences
  • Environmental Sciences
  • Political Sciences
  • Psychological and Cognitive Sciences
  • Social Sciences

Biological Sciences

Featured Portals

  • Sustainability Science

Articles by Topic

  • Agricultural Sciences
  • Anthropology
  • Applied Biological Sciences
  • Biochemistry
  • Biophysics and Computational Biology
  • Cell Biology
  • Developmental Biology
  • Ecology
  • Environmental Sciences
  • Evolution
  • Genetics
  • Immunology and Inflammation
  • Medical Sciences
  • Microbiology
  • Neuroscience
  • Pharmacology
  • Physiology
  • Plant Biology
  • Population Biology
  • Psychological and Cognitive Sciences
  • Sustainability Science
  • Systems Biology
Research Article

In vivo severity ranking of Ras pathway mutations associated with developmental disorders

View ORCID ProfileGranton A. Jindal, Yogesh Goyal, Kei Yamaya, Alan S. Futran, Iason Kountouridis, Courtney A. Balgobin, Trudi Schüpbach, Rebecca D. Burdine, and Stanislav Y. Shvartsman
PNAS January 17, 2017 114 (3) 510-515; first published January 3, 2017; https://doi.org/10.1073/pnas.1615651114
Granton A. Jindal
aDepartment of Chemical and Biological Engineering, Princeton University, Princeton, NJ 08544;
bLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544;
cDepartment of Molecular Biology, Princeton University, Princeton, NJ 08544
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Granton A. Jindal
Yogesh Goyal
aDepartment of Chemical and Biological Engineering, Princeton University, Princeton, NJ 08544;
bLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544;
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Kei Yamaya
bLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544;
cDepartment of Molecular Biology, Princeton University, Princeton, NJ 08544
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Alan S. Futran
aDepartment of Chemical and Biological Engineering, Princeton University, Princeton, NJ 08544;
bLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544;
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Iason Kountouridis
bLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544;
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Courtney A. Balgobin
cDepartment of Molecular Biology, Princeton University, Princeton, NJ 08544
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Trudi Schüpbach
cDepartment of Molecular Biology, Princeton University, Princeton, NJ 08544
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Rebecca D. Burdine
cDepartment of Molecular Biology, Princeton University, Princeton, NJ 08544
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Stanislav Y. Shvartsman
aDepartment of Chemical and Biological Engineering, Princeton University, Princeton, NJ 08544;
bLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544;
cDepartment of Molecular Biology, Princeton University, Princeton, NJ 08544
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: stas@princeton.edu
  1. Edited by Denis Duboule, University of Geneva, Geneva, Switzerland, and approved December 1, 2016 (received for review September 19, 2016)

  • Article
  • Figures & SI
  • Info & Metrics
  • PDF
Loading

Online Impact

 

Article Information

vol. 114 no. 3 510-515
DOI: 
https://doi.org/10.1073/pnas.1615651114
PubMed: 
28049852

Published By: 
National Academy of Sciences
Print ISSN: 
0027-8424
Online ISSN: 
1091-6490
History: 
  • Published in issue January 17, 2017.
  • Published first January 3, 2017.

Copyright & Usage: 

Author Information

  1. Granton A. Jindala,b,c,1,
  2. Yogesh Goyala,b,1,
  3. Kei Yamayab,c,
  4. Alan S. Futrana,b,
  5. Iason Kountouridisb,
  6. Courtney A. Balgobinc,
  7. Trudi Schüpbachc,
  8. Rebecca D. Burdinec, and
  9. Stanislav Y. Shvartsmana,b,c,2
  1. aDepartment of Chemical and Biological Engineering, Princeton University, Princeton, NJ 08544;
  2. bLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544;
  3. cDepartment of Molecular Biology, Princeton University, Princeton, NJ 08544
  1. Edited by Denis Duboule, University of Geneva, Geneva, Switzerland, and approved December 1, 2016 (received for review September 19, 2016)

Footnotes

  • ↵1G.A.J. and Y.G. contributed equally to this work.

  • ↵2To whom correspondence should be addressed. Email: stas{at}princeton.edu.
  • Author contributions: G.A.J., Y.G., T.S., R.D.B., and S.Y.S. designed research; G.A.J., Y.G., K.Y., I.K., and C.A.B. performed research; A.S.F. contributed new reagents/analytic tools; G.A.J., Y.G., and K.Y. analyzed data; and G.A.J., Y.G., T.S., R.D.B., and S.Y.S. wrote the paper.

  • The authors declare no conflict of interest.

  • This article is a PNAS Direct Submission.

  • This article contains supporting information online at www.pnas.org/lookup/suppl/doi:10.1073/pnas.1615651114/-/DCSupplemental.

Cited By...

  • 19 Citations
  • 21 Citations
  • Google Scholar

This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

  • Zebrafish at the Interface of Development and Disease Research
    Meagan G. Grant, Victoria L. Patterson, Daniel T. Grimes, Rebecca D. Burdine
    2017 124
  • Feedback regulation of RTK signaling in development
    Cynthia L. Neben, Megan Lo, Natalia Jura, Ophir D. Klein
    Developmental Biology 2019 447 1
  • Outstanding questions in developmental ERK signaling
    Aleena L. Patel, Stanislav Y. Shvartsman
    Development 2018 145 14
  • Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer
    Sahar Nissim, Ignaty Leshchiner, Joseph D. Mancias, Matthew B. Greenblatt, Ophélia Maertens, Christopher A. Cassa, Jill A. Rosenfeld, Andrew G. Cox, John Hedgepeth, Julia I. Wucherpfennig, Andrew J. Kim, Jake E. Henderson, Patrick Gonyo, Anthony Brandt, Ellen Lorimer, Bethany Unger, Jeremy W. Prokop, Jerry R. Heidel, Xiao-Xu Wang, Chinedu I. Ukaegbu, Benjamin C. Jennings, Joao A. Paulo, Sebastian Gableske, Carol A. Fierke, Gad Getz, Shamil R. Sunyaev, J. Wade Harper, Karen Cichowski, Alec C. Kimmelman, Yariv Houvras, Sapna Syngal, Carol Williams, Wolfram Goessling
    Nature Genetics 2019 51 9
  • Personalised Medicine
    Sarah Baxendale, Freek van Eeden, Robert Wilkinson
    2017 1007
  • Zebrafish Models of Rare Hereditary Pediatric Diseases
    Máté Varga, Dorottya Ralbovszki, Eszter Balogh, Renáta Hamar, Magdolna Keszthelyi, Kálmán Tory
    Diseases 2018 6 2
  • Intrinsically active MEK variants are differentially regulated by proteinases and phosphatases
    Merav Ordan, Chiara Pallara, Galia Maik-Rachline, Tamar Hanoch, Francesco Luigi Gervasio, Fabian Glaser, Juan Fernandez-Recio, Rony Seger
    Scientific Reports 2018 8 1
  • Parallel imaging ofDrosophilaembryos for quantitative analysis of genetic perturbations of the Ras pathway
    Yogesh Goyal, Thomas J. Levario, Henry H. Mattingly, Susan Holmes, Stanislav Y. Shvartsman, Hang Lu
    Disease Models & Mechanisms 2017 10 7
  • The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning
    Michael C. Holter, Lauren. T. Hewitt, Stephanie V. Koebele, Jessica M. Judd, Lei Xing, Heather A. Bimonte-Nelson, Cheryl D. Conrad, Toshiyuki Araki, Benjamin G. Neel, William D. Snider, Jason M. Newbern, Gregory S. Barsh
    PLOS Genetics 2019 15 4
  • How activating mutations affect MEK1 regulation and function
    Granton A. Jindal, Yogesh Goyal, John M. Humphreys, Eyan Yeung, Kaijia Tian, Victoria L. Patterson, Haixia He, Rebecca D. Burdine, Elizabeth J. Goldsmith, Stanislav Y. Shvartsman
    Journal of Biological Chemistry 2017 292 46
  • RAS GTPase-dependent pathways in developmental diseases: old guys, new lads, and current challenges
    Xosé R Bustelo, Piero Crespo, Isabel Fernández-Pisonero, Sonia Rodríguez-Fdez
    Current Opinion in Cell Biology 2018 55
  • A quantitative model of developmental RTK signaling
    Yogesh Goyal, Trudi Schüpbach, Stanislav Y. Shvartsman
    Developmental Biology 2018 442 1
  • Natural diversity facilitates the discovery of conserved chemotherapeutic response mechanisms
    Stefan Zdraljevic, Erik C Andersen
    Current Opinion in Genetics & Development 2017 47
  • Optimizing photoswitchable MEK
    Aleena L. Patel, Eyan Yeung, Sarah E. McGuire, Andrew Y. Wu, Jared E. Toettcher, Rebecca D. Burdine, Stanislav Y. Shvartsman
    Proceedings of the National Academy of Sciences 2019 116 51
  • Swimming toward solutions: Using fish and frogs as models for understanding RASopathies
    Victoria L. Patterson, Rebecca D. Burdine
    Birth Defects Research 2020 112 10
  • Inference of Multisite Phosphorylation Rate Constants and Their Modulation by Pathogenic Mutations
    Eyan Yeung, Sarah McFann, Lewis Marsh, Emilie Dufresne, Sarah Filippi, Heather A. Harrington, Stanislav Y. Shvartsman, Martin Wühr
    Current Biology 2020 30 5
  • The sixth international RASopathies symposium: Precision medicine—From promise to practice
    Karen W. Gripp, Lisa Schill, Lisa Schoyer, Beth Stronach, Anton M. Bennett, Susan Blaser, Amanda Brown, Rebecca Burdine, Emma Burkitt‐Wright, Pau Castel, Sandra Darilek, Alwyn Dias, Tuesdi Dyer, Michelle Ellis, Gregg Erickson, Bruce D. Gelb, Tamar Green, Andrea Gross, Alan Ho, James Lloyd Holder, Shin‐Ichi Inoue, Angie C. Jelin, Annie Kennedy, Richard Klein, Maria I. Kontaridis, Pilar Magoulas, Darryl B. McConnell, Frank McCormick, Benjamin G. Neel, Carlos E. Prada, Katherine A. Rauen, Amy Roberts, Pablo Rodriguez‐Viciana, Neal Rosen, Gavin Rumbaugh, Anna Sablina, Maja Solman, Marco Tartaglia, Angelica Thomas, William C. Timmer, Kartik Venkatachalam, Karin S. Walsh, Pamela L. Wolters, Jae‐Sung Yi, Martin Zenker, Nancy Ratner
    American Journal of Medical Genetics Part A 2020 182 3
  • Mechanisms and causality in molecular diseases
    Shannon E. Keenan, Stanislav Y. Shvartsman
    History and Philosophy of the Life Sciences 2017 39 4
  • Introduction to the special issue on “ RASopathies : Misregulation of signaling”
    Michiko Watanabe
    Birth Defects Research 2020 112 10
  • PI3K Driver Mutations: A Biophysical Membrane-Centric Perspective
    Mingzhen Zhang, Hyunbum Jang, Ruth Nussinov
    Cancer Research 2021 81 2
  • Pax2a is expressed in oocytes and is responsible for early development and oogenesis in zebrafish
    Theeranukul Pachoensuk, Taketo Fukuyo, Klangnurak Wanlada, Md Rezanujjaman, Md Mostafizur Rahaman, Kagura Sasaoka, Md Maisum Sarwar Jyoti, Md Rubel Rana, Md Hasan Ali, Toshinobu Tokumoto
    Biochemical and Biophysical Research Communications 2020 533 3

Article usage

Article usage: January 2017 to January 2021

AbstractFullPdf
Jan 20179210361367
Feb 20171242138114
Mar 201731311054
Apr 20172299957
May 20171665634
Jun 20171532946
Jul 201717112945
Aug 20171193343
Sep 20171123727
Oct 2017963127
Nov 2017744118
Dec 2017872421
Total 2017119721088853
Jan 2018643220
Feb 2018314422
Mar 2018506337
Apr 2018628428
May 2018597018
Jun 2018505616
Jul 2018445510
Aug 2018657620
Sep 2018615512
Oct 2018259313
Nov 2018614126
Dec 201875312
Total 2018524822234
Jan 2019317825
Feb 2019135420
Mar 201975523
Apr 201966531
May 201953224
Jun 2019114017
Jul 2019174616
Aug 2019113522
Sep 2019133511
Oct 2019182612
Nov 2019215723
Dec 2019173715
Total 2019142660239
Jan 2020335218
Feb 2020235424
Mar 2020265223
Apr 2020125139
May 2020245422
Jun 202064017
Jul 2020123420
Aug 202062018
Sep 202032711
Oct 202052414
Nov 20208227
Dec 2020103616
Total 2020168466229
Jan 202111915
Total 202111915
Total1280730551570
PreviousNext
Back to top
Article Alerts
Email Article

Thank you for your interest in spreading the word on PNAS.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
In vivo severity ranking of Ras pathway mutations associated with developmental disorders
(Your Name) has sent you a message from PNAS
(Your Name) thought you would like to see the PNAS web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Citation Tools
Ranking of RASopathy mutations
Granton A. Jindal, Yogesh Goyal, Kei Yamaya, Alan S. Futran, Iason Kountouridis, Courtney A. Balgobin, Trudi Schüpbach, Rebecca D. Burdine, Stanislav Y. Shvartsman
Proceedings of the National Academy of Sciences Jan 2017, 114 (3) 510-515; DOI: 10.1073/pnas.1615651114

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Request Permissions
Share
Ranking of RASopathy mutations
Granton A. Jindal, Yogesh Goyal, Kei Yamaya, Alan S. Futran, Iason Kountouridis, Courtney A. Balgobin, Trudi Schüpbach, Rebecca D. Burdine, Stanislav Y. Shvartsman
Proceedings of the National Academy of Sciences Jan 2017, 114 (3) 510-515; DOI: 10.1073/pnas.1615651114
Digg logo Reddit logo Twitter logo Facebook logo Google logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Mendeley logo Mendeley
Proceedings of the National Academy of Sciences: 114 (3)
Table of Contents

Submit

Sign up for Article Alerts

Article Classifications

  • Biological Sciences
  • Developmental Biology

Jump to section

  • Article
    • Abstract
    • Results
    • Discussion
    • Methods
    • Acknowledgments
    • Footnotes
    • References
  • Figures & SI
  • Info & Metrics
  • PDF

You May Also be Interested in

Abstract depiction of a guitar and musical note
Science & Culture: At the nexus of music and medicine, some see disease treatments
Although the evidence is still limited, a growing body of research suggests music may have beneficial effects for diseases such as Parkinson’s.
Image credit: Shutterstock/agsandrew.
Scientist looking at an electronic tablet
Opinion: Standardizing gene product nomenclature—a call to action
Biomedical communities and journals need to standardize nomenclature of gene products to enhance accuracy in scientific and public communication.
Image credit: Shutterstock/greenbutterfly.
One red and one yellow modeled protein structures
Journal Club: Study reveals evolutionary origins of fold-switching protein
Shapeshifting designs could have wide-ranging pharmaceutical and biomedical applications in coming years.
Image credit: Acacia Dishman/Medical College of Wisconsin.
White and blue bird
Hazards of ozone pollution to birds
Amanda Rodewald, Ivan Rudik, and Catherine Kling talk about the hazards of ozone pollution to birds.
Listen
Past PodcastsSubscribe
Goats standing in a pin
Transplantation of sperm-producing stem cells
CRISPR-Cas9 gene editing can improve the effectiveness of spermatogonial stem cell transplantation in mice and livestock, a study finds.
Image credit: Jon M. Oatley.

Similar Articles

Site Logo
Powered by HighWire
  • Submit Manuscript
  • Twitter
  • Facebook
  • RSS Feeds
  • Email Alerts

Articles

  • Current Issue
  • Latest Articles
  • Archive

PNAS Portals

  • Anthropology
  • Chemistry
  • Classics
  • Front Matter
  • Physics
  • Sustainability Science
  • Teaching Resources

Information

  • Authors
  • Editorial Board
  • Reviewers
  • Librarians
  • Press
  • Site Map
  • PNAS Updates

Feedback    Privacy/Legal

Copyright © 2021 National Academy of Sciences. Online ISSN 1091-6490