R
Roger E. Breitbart
Researcher at Boston Children's Hospital
Publications - 60
Citations - 12419
Roger E. Breitbart is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Fontan procedure & Alternative splicing. The author has an hindex of 37, co-authored 59 publications receiving 11327 citations. Previous affiliations of Roger E. Breitbart include Takeda Pharmaceutical Company & Howard Hughes Medical Institute.
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Journal ArticleDOI
A Novel Angiotensin-Converting Enzyme–Related Carboxypeptidase (ACE2) Converts Angiotensin I to Angiotensin 1-9
Mary Donoghue,Frank Y. Hsieh,Elizabeth Baronas,Kevin Godbout,Michael Gosselin,Nancy E. Stagliano,Michael J. Donovan,Betty Woolf,Keith E. Robison,Raju Jeyaseelan,Roger E. Breitbart,Susan L. Acton +11 more
TL;DR: The organ- and cell-specific expression of ACE2 and its unique cleavage of key vasoactive peptides suggest an essential role for ACE2 in the local renin-angiotensin system of the heart and kidney.
Journal ArticleDOI
Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice.
Hong Chen,Olga Charlat,Louis A. Tartaglia,Elizabeth A. Woolf,Xun Weng,Stephen J Ellis,Nathan D Lakey,Janice A. Culpepper,Karen J More,Roger E. Breitbart,Geoffrey M. Duyk,Robert I. Tepper,Jay P. Morgenstern +12 more
TL;DR: It is predicted that the long intrACEllular domain form of OB-R is crucial for initiating intracellular signal transduction, and as a corollary, the inability to produce this form ofOB-R leads to the severe obese phenotype found in db/db mice.
Journal ArticleDOI
De novo mutations in histone-modifying genes in congenital heart disease
Samir Zaidi,Murim Choi,Hiroko Wakimoto,Lijiang Ma,Jianming Jiang,John D. Overton,Angela Romano-Adesman,Robert D. Bjornson,Roger E. Breitbart,Kerry K. Brown,Nicholas Carriero,Yee Him Cheung,John E. Deanfield,Steve Depalma,Khalid Adnan Mohamed A. Fakhro,Joseph T. Glessner,Hakon Hakonarson,Michael J. Italia,Jonathan R. Kaltman,Juan Pablo Kaski,Richard B. Kim,Jennie Kline,Teresa Lee,Jeremy Leipzig,Alexander Lopez,Shrikant Mane,Laura E. Mitchell,Jane W. Newburger,Michael Parfenov,Itsik Pe'er,George A. Porter,Amy E. Roberts,Ravi Sachidanandam,Stephen Sanders,Howard S. Seiden,Mathew W. State,Sai Lakshmi Subramanian,Irina Tikhonova,Wei Wang,Wei Wang,Dorothy Warburton,Peter White,Ismee A. Williams,Hongyu Zhao,Jonathan G. Seidman,Martina Brueckner,Wendy K. Chung,Bruce D. Gelb,Elizabeth Goldmuntz,Christine E. Seidman,Richard P. Lifton +50 more
TL;DR: Comparing the incidence of de novo mutations in severe CHD cases and controls by analysing exome sequencing of parent–offspring trios suggests that several hundreds of genes collectively contribute to approximately 10% of severeCHD.
Journal ArticleDOI
Alternative splicing: a ubiquitous mechanism for the generation of multiple protein isoforms from single genes.
TL;DR: The primary and Secondary Structure of RNA Transcripts and theories of RNA Splicing, as well as several other topics, are reviewed in detail.
Journal ArticleDOI
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Jason Homsy,Samir Zaidi,Yufeng Shen,James S. Ware,James S. Ware,James S. Ware,Kaitlin E. Samocha,Konrad J. Karczewski,Steven R. DePalma,Steven R. DePalma,David M. McKean,Hiroko Wakimoto,Josh Gorham,Sheng Chih Jin,John E. Deanfield,Alessandro Giardini,George A. Porter,Richard B. Kim,Kaya Bilguvar,Francesc López-Giráldez,Irina Tikhonova,Shrikant Mane,Angela Romano-Adesman,Hongjian Qi,Hongjian Qi,Badri N. Vardarajan,Lijiang Ma,Mark J. Daly,Amy E. Roberts,Mark W. Russell,Seema Mital,Jane W. Newburger,J. William Gaynor,Roger E. Breitbart,Ivan Iossifov,Michael Ronemus,Stephen Sanders,Jonathan R. Kaltman,Jonathan G. Seidman,Martina Brueckner,Bruce D. Gelb,Elizabeth Goldmuntz,Elizabeth Goldmuntz,Richard P. Lifton,Richard P. Lifton,Christine E. Seidman,Christine E. Seidman,Christine E. Seidman,Wendy K. Chung +48 more
TL;DR: Clinical genotyping of patients with CHD may help to identify those at greatest risk of neurodevelopmental disabilities, allowing surveillance and early intervention and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients.