G
Gretchen L. Oswald
Researcher at Johns Hopkins University
Publications - 15
Citations - 2662
Gretchen L. Oswald is an academic researcher from Johns Hopkins University. The author has contributed to research in topics: Loeys–Dietz syndrome & Marfan syndrome. The author has an hindex of 10, co-authored 15 publications receiving 2415 citations. Previous affiliations of Gretchen L. Oswald include Johns Hopkins University School of Medicine.
Papers
More filters
Journal ArticleDOI
Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Bart Loeys,Bart Loeys,Ulrike Schwarze,Tammy M. Holm,Bert Callewaert,George H. Thomas,George H. Thomas,Hariyadarshi Pannu,Julie De Backer,Gretchen L. Oswald,Sofie Symoens,Sylvie Manouvrier,Amy E. Roberts,Francesca Faravelli,M. Alba Greco,Reed E. Pyeritz,Dianna M. Milewicz,Paul Coucke,Duke E. Cameron,Alan C. Braverman,Peter H. Byers,Anne De Paepe,Harry C. Dietz,Harry C. Dietz +23 more
TL;DR: An additional cohort of 40 patients who had vascular Ehlers–Danlos syndrome without the characteristic type III collagen abnormalities or the craniofacial features of the Loeys–Dietz syndrome were screened and a mutation in TGFBR1 or TGF BR2 was found.
Journal ArticleDOI
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
Mark E. Lindsay,Dorien Schepers,Nikhita Ajit Bolar,Jefferson J. Doyle,Elena M. Gallo,Justyna Fert-Bober,Marlies Kempers,Elliot K. Fishman,Yichun Chen,Loretha Myers,Djahita Bjeda,Gretchen L. Oswald,Abdallah F. Elias,Howard P. Levy,Britt-Marie Anderlid,Margaret H. Yang,Ernie M.H.F. Bongers,Janneke Timmermans,Alan C. Braverman,Natalie Canham,Geert Mortier,Han G. Brunner,Peter H. Byers,Jennifer E. Van Eyk,Lut Van Laer,Harry C. Dietz,Harry C. Dietz,Bart Loeys +27 more
TL;DR: The hypothesis that compensatory autocrine and/or paracrine events contribute to the pathogenesis of TGF-β–mediated vasculopathies is supported.
Journal ArticleDOI
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Aida M. Bertoli-Avella,Elisabeth Gillis,Hiroko Morisaki,Judith M.A. Verhagen,Bianca M. de Graaf,Gerarda van de Beek,Elena M. Gallo,Boudewijn P.T. Kruithof,Hanka Venselaar,Loretha Myers,Steven Laga,Alexander J Doyle,Gretchen L. Oswald,Gert W. A. van Cappellen,Itaru Yamanaka,Robert van der Helm,Berna Beverloo,Annelies de Klein,Luba M. Pardo,Martin Lammens,Christina Evers,Koenraad Devriendt,Michiel Dumoulein,Janneke Timmermans,Hennie T. Brüggenwirth,Frans W. Verheijen,Inez Rodrigus,Gareth Baynam,Marlies Kempers,Johan Saenen,Emeline M. Van Craenenbroeck,Kenji Minatoya,Ritsu Matsukawa,Takuro Tsukube,Noriaki Kubo,Robert M.W. Hofstra,Marie J ose Goumans,Jos A. Bekkers,Jolien W. Roos-Hesselink,Ingrid M.B.H. van de Laar,Harry C. Dietz,Lut Van Laer,Takayuki Morisaki,Marja W. Wessels,Bart Loeys +44 more
TL;DR: In this article, aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture, and investigations of the pathogenic mechanisms invo...
Journal ArticleDOI
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
Nara Sobreira,Elizabeth T. Cirulli,Dimitrios Avramopoulos,Elizabeth Wohler,Gretchen L. Oswald,Eric L. Stevens,Dongliang Ge,Kevin V. Shianna,Jason Smith,Jessica M. Maia,Curtis Gumbs,Jonathan Pevsner,Jonathan Pevsner,George H. Thomas,George H. Thomas,David Valle,Julie Hoover-Fong,David Goldstein +17 more
TL;DR: The whole genome of a single patient with the dominant Mendelian disease, metachondromatosis, is sequenced and an 11 bp deletion in exon four of PTPN11 is identified, which alters frame, results in premature translation termination, and co-segregates with the phenotype.
Journal ArticleDOI
TGFβ Receptor Mutations Impose a Strong Predisposition for Human Allergic Disease
Pamela A. Frischmeyer-Guerrerio,Anthony L. Guerrerio,Gretchen L. Oswald,Kristin L. Chichester,Loretha Myers,Marc K. Halushka,Maria Oliva-Hemker,Robert A. Wood,Harry C. Dietz +8 more
TL;DR: It is demonstrated that patients with Loeys-Dietz syndrome (LDS), an autosomal dominant disorder caused by mutations in the genes encoding receptor subunits for TGFβ, TGF BR1 and TGFBR2, are strongly predisposed to develop allergic disease, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal disease.