7 research outputs found
De novo mutations in histone modifying genes in congenital heart disease
- Author
- Bjornson Robert D.
- Breitbart Roger E.
- Brown Kerry K.
- Brueckner Martina
- Carriero Nicholas J.
- Cheung Yee Him
- Choi Murim
- Chung Wendy K.
- Deanfield John
- DePalma Steve
- Fakhro Khalid A.
- Gelb Bruce D.
- Glessner Joseph
- Goldmuntz Elizabeth
- Hakonarson Hakon
- Italia Michael
- Jiang Jianming
- Kaltman Jonathan R.
- Kaski Juan
- Kim Richard
- Kline Jennie K.
- Lee Teresa
- Leipzig Jeremy
- Lifton Richard P.
- Lopez Alexander
- Ma Lijiang
- Mane Shrikant M.
- Mitchell Laura E.
- Newburger Jane W.
- Overton John D.
- Parfenov Michael
- Pe'er Itsik
- Porter George
- Roberts Amy
- Romano-Adesman Angela
- Sachidanandam Ravi
- Sanders Stephan J.
- Seiden Howard S.
- Seidman Christine E.
- Seidman Jonathan G.
- State Mathew W.
- Subramanian Sailakshmi
- Tikhonova Irina R.
- Wakimoto Hiroko
- Wang Wei
- Warburton Dorothy
- White Peter S.
- Williams Ismee A.
- Zaidi Samir
- Zhao Hongyu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 14/05/2013
- Field of study
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births1. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. By analysis of exome sequencing of parent-offspring trios, we compared the incidence of de novo mutations in 362 severe CHD cases and 264 controls. CHD cases showed a significant excess of protein-altering de novo mutations in genes expressed in the developing heart, with an odds ratio of 7.5 for damaging mutations. Similar odds ratios were seen across major classes of severe CHD. We found a marked excess of de novo mutations in genes involved in production, removal or reading of H3K4 methylation (H3K4me), or ubiquitination of H2BK120, which is required for H3K4 methylation2–4. There were also two de novo mutations in SMAD2; SMAD2 signaling in the embryonic left-right organizer induces demethylation of H3K27me5. H3K4me and H3K27me mark `poised' promoters and enhancers that regulate expression of key developmental genes6. These findings implicate de novo point mutations in several hundred genes that collectively contribute to ~10% of severe CHD
The Problem With Being Special
- Author
- Baker E.
- Berry C.R.
- Berry C.R.
- Berry C.R.
- Berry C.R.
- Bort D.C.
- Bowler S.
- Bridges A.
- Cain B.
- California Secretary of State.
- California State Controller’s Office.
- Chacon F.
- Chapman J.I.
- Citizens Research Council of Michigan.
- City of San Diego Annual Fiscal Year 2004 Budget.
- Einhorn R.
- Foldvary F.E.
- Frammolino R.
- Gaines S.A.
- Garreau J.
- Garrett E.
- Garrett E.
- Garrett E.
- Garrett E.
- Garrett E.
- Gerber E.R.
- Governor’s Office of Planning and Research.
- Greater Golden Hill Community Development Corporation.
- Hajnal Z.
- Hargrove D.
- Hargrove D.
- Hotelwala M.
- Keppel B.
- Keppel B.
- Kiewiet D.R.
- Kirk D.
- Kogan V.
- Kousser T.
- Krueger A.
- Lewis S.
- Los Angeles County Auditor and Controller.
- Massachusetts Department of Revenue.
- Mathew D. McCubbins
- Merina V.
- Miscynski D.J.
- Ops. Call. Attorney General.
- O’Dell J.
- Rosewater V.
- San Diego County Auditor and Controller.
- Senate Committee on Local Government.
- Shires M.A.
- Shires M.A.
- Shuit D.
- Smith D.A.
- Tirole J.
- Trochim W.
- Vladimir Kogan
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study
Mobilizing the Logic of Managerialism in Professional Fields: The Case of Academic Health Centre Mergers
- Author
- Abbot Andrew
- Abrahamson Eric
- Ackroyd Stephen
- Alexander Jeffrey
- Barley Stephen
- Brint Steven
- Brooks Geoffrey
- California State Auditor
- Center for the Health Professions
- Clarke John
- Commonwealth Fund Task Force on Academic Health Centres
- Devers Kelly
- DiMaggio Paul
- DiMaggio Paul
- DiMaggio Paul
- Eastwood Gregory
- Enthoven Alain
- Estes Carroll
- Freidson Eliot
- Friedland Roger
- Galdabini Greg
- Greenwood Royston
- Hannan Michael
- Hardy Cynthia
- Hellman Warren
- Hunter Group
- Hurley Robert
- Kitchener Martin
- Kitchener Martin
- Langley Ann
- Lincoln Yvonna
- Luke Roice
- Martin Kitchener
- Martin Joseph
- McKinley William
- Meyer John
- Miles Mathew
- Mintzberg Henry
- Oliver Christine
- Orru Marco
- Osbourne David
- Patton Michael
- Pettigrew Andrew
- Powell Walter
- Ragin Charles
- Rubin Elaine
- Russell Sabin
- Scott Richard
- Scott W. Richard
- Scott W. Richard
- Sirower Mark
- Starr Paul
- Strauss Anselm
- Strauss Anselm
- Suchman Mark
- Thompson James
- Tysome Tony
- University of California
- University of California
- Williamson Oliver
- Yin Robert
- Yin Robert
- Zucker Lynne
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study
The Free-Trade Doctrine and Commercial Diplomacy of Condy Raguet
- Author
- Adam Smith
- Ahearn
- Albert Gallatin
- American Benns
- American State Papers
- American State Papers
- Antonia Fernanda Pacca De Almeida Wright
- Belko
- Belko
- C Clement
- Caesar A Adams To
- Camur�a
- Camur�a
- Camur�a
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- Carey Raguet To
- Carey Raguet To
- Carey Raguet To
- Chauncey Samuel Boucher
- Clay Raguet To
- Clay Raguet To
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- Clay Raguet To
- Clay Raguet To
- Clay Raguet To
- Condy Raguet
- D Henry
- Daniel Joseph Ahearn
- Decharms According To Biddle
- Decharms Biddle
- Decharms Biddle
- Diplomatic Hill
- E G Say
- Editorial
- Edward Stanwood
- F Lee Benns
- Frank W Taussig
- Free Editorial
- Gallatin
- H. Arthur Scott Trask
- Hamilton Stanislaus Murray
- Henry Clay
- Henry Lee
- Henry Lee
- House Doc
- Ibid
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- Ibid Editorial
- J Silvestre
- Jacob H Hollander
- James M Wilcox
- Jean-Baptiste Say
- Jeffrey J Also
- John Quincy
- John Quincy Adams
- John Taylor
- Joseph Dorfman
- L F Hill
- Later
- Lee Raguet To
- Manning
- Manning
- Mathew Carey
- Monroe To
- Mr
- Mr Brazil
- Murray N Rothbard
- Paul Conkin
- Pennsylvania Commonwealth Of
- Pennsylvania Commonwealth Of
- Prinsep
- Raguet
- Raguet
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- Raguet Clay To
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- Raguet To Clay
- Rebello Clay To
- Ricardo Raguet To
- S Raguet To Visconde De
- See For Instance Jagdish
- Setser
- Smith
- Stanwood
- Stanwood
- Stanwood
- Stephen J. Meardon
- Tariff Taussig
- Theodore Sedgwick
- Thomas L Martin
- Thomas L Martin
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- Unifying Belko
- Van Buren To Mclane
- Van Buren To Mclane
- Van Buren To Mclean
- Vernon Setser
- W
- William R Manning
- William Spence Robertson
- Zelia S�
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2011
- Field of study
The Americans with Disabilities Act and the Constitution of the United States (Dissertation)
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- . L Olmstead V
- A Ernest
- A Matthew
- A Stephen
- Aaron Tang
- Abbe R Gluck
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- 'Elsevier BV'
- Publication date
- 01/01/2021
- Field of study