Search Results - (Author, Cooperation:H. C. Dietz)
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1J. P. Habashi ; J. J. Doyle ; T. M. Holm ; H. Aziz ; F. Schoenhoff ; D. Bedja ; Y. Chen ; A. N. Modiri ; D. P. Judge ; H. C. Dietz
American Association for the Advancement of Science (AAAS)
Published 2011Staff ViewPublication Date: 2011-04-16Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Angiotensin II/metabolism ; Angiotensin II Type 1 Receptor Blockers/pharmacology/therapeutic use ; Angiotensin-Converting Enzyme Inhibitors/pharmacology/therapeutic use ; Animals ; Aorta ; Aortic Aneurysm/drug therapy/*metabolism/pathology/prevention & control ; Aortic Rupture/metabolism/pathology/prevention & control ; Disease Models, Animal ; Disease Progression ; Enalapril/pharmacology/therapeutic use ; Losartan/pharmacology/therapeutic use ; MAP Kinase Signaling System ; Marfan Syndrome/drug therapy/*metabolism/pathology ; Mice ; Mice, Knockout ; Mitogen-Activated Protein Kinase 1/*antagonists & inhibitors/metabolism ; Mitogen-Activated Protein Kinase 3/*antagonists & inhibitors/metabolism ; Receptor, Angiotensin, Type 2/genetics/*metabolism ; *Signal Transduction ; Transforming Growth Factor beta/metabolismPublished by: -
2Staff View
Publication Date: 2011-05-20Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Angiotensin II/metabolism ; Animals ; Aortic Aneurysm/complications/*genetics/*pathology/therapy ; Disease Models, Animal ; Elastin/metabolism ; Humans ; Muscle, Smooth, Vascular/pathology ; Transforming Growth Factor beta/metabolismPublished by: -
3T. M. Holm ; J. P. Habashi ; J. J. Doyle ; D. Bedja ; Y. Chen ; C. van Erp ; M. E. Lindsay ; D. Kim ; F. Schoenhoff ; R. D. Cohn ; B. L. Loeys ; C. J. Thomas ; S. Patnaik ; J. J. Marugan ; D. P. Judge ; H. C. Dietz
American Association for the Advancement of Science (AAAS)
Published 2011Staff ViewPublication Date: 2011-04-16Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Anthracenes/pharmacology/therapeutic use ; Aorta/pathology ; Aortic Aneurysm/*metabolism/pathology/physiopathology/prevention & control ; Diphenylamine/analogs & derivatives/pharmacology/therapeutic use ; Disease Models, Animal ; Disease Progression ; Enzyme Activation ; Losartan/pharmacology/therapeutic use ; *MAP Kinase Signaling System ; Marfan Syndrome/drug therapy/*metabolism/pathology ; Mice ; Mitogen-Activated Protein Kinase 1/antagonists & inhibitors/*metabolism ; Mitogen-Activated Protein Kinase 3/antagonists & inhibitors/*metabolism ; Mitogen-Activated Protein Kinase 8/antagonists & inhibitors/metabolism ; Protein Kinase Inhibitors/pharmacology/therapeutic use ; Smad2 Protein/metabolism ; Smad4 Protein/deficiency/genetics ; Sulfonamides/pharmacology/therapeutic use ; Transforming Growth Factor beta/antagonists & inhibitors/immunology/*metabolismPublished by: -
4E. E. Gerber ; E. M. Gallo ; S. C. Fontana ; E. C. Davis ; F. M. Wigley ; D. L. Huso ; H. C. Dietz
Nature Publishing Group (NPG)
Published 2013Staff ViewPublication Date: 2013-10-11Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Amino Acid Motifs/genetics ; Amino Acid Substitution/genetics ; Animals ; Antibodies, Antinuclear/immunology ; Antibodies, Neutralizing/immunology/pharmacology/therapeutic use ; Autoimmunity/*drug effects/immunology ; Contracture/*drug therapy/immunology/*pathology/prevention & control ; Dendritic Cells/drug effects ; Female ; Fibrosis/drug therapy/pathology/prevention & control ; Integrins/*drug effects/*metabolism ; Male ; Mice ; Microfilament Proteins/chemistry/genetics/metabolism ; Mutation, Missense/genetics ; Plasma Cells/drug effects ; Scleroderma, Systemic/*drug therapy/immunology/*pathology/prevention & control ; Skin Diseases, Genetic/*drug therapy/immunology/*pathology/prevention & control ; T-Lymphocytes, Helper-Inducer/drug effects ; Transforming Growth Factor beta/antagonists & inhibitors/immunologyPublished by: -
5Blaszczyk, A. ; Tang, Y. X. ; Dietz, H. C. ; Adler, A. ; Berkeley, A. S. ; Krey, L. C. ; Grifo, J. A.
Springer
Published 1998Staff ViewISSN: 1573-7330Keywords: embryo biopsy ; Marfan's syndrome ; PCR analysis ; Preimplantation genetic diagnosisSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract Purpose: Single-cell nested polymerase chain reaction (PCR) and Dde1 endonuclease digestion were used to detect the presence of a Marfan's syndrome mutation in human preimplantation embryos derived from in vitro fertilization (IVF). These procedures were conducted to eliminate the possibility of transmission of the affected allele from the father to his offspring. The mutation on chromosome 15 is transmitted as an autosomal dominant trait, and the chance of having a child affected with the disease is 50%. Methods: A couple presented to the Program for In Vitro Fertilization, Reproductive Surgery and Infertility for preimplantation genetic diagnosis. IVF was performed and embryo biopsy was done on day 3 embryos, Single blastomeres were removed from embryos and subjected to nested PCR analysis and endonuclease digestion to detect a Marfan's syndrome mutation located on chromosome 15 inherited from the father. Results: Thirteen oocytes were injected with spermatozoa using intracytoplasmic sperm injection, and nine fertilized normally. Following embryo biopsy and polymerase chain reaction amplification-Dde1 endonuclease digestion, five embryos were detected that were positive for the mutation. The four non-affected embryos were transferred to the uterus, resulting in a healthy and normal ongoing pregnancy.Type of Medium: Electronic ResourceURL: