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Academic Journal

Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome.

Subjects: Mechanotransduction, Cellular*; Cardiomyopathy, Dilated/Cardiomyopathy, Dilated/Cardiomyopathy, Dilated/*metabolism ; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*metabolism

  • Source: The Journal of clinical investigation [J Clin Invest] 2014 Mar; Vol. 124 (3), pp. 1329-39. Date of Electronic Publication: 2014 Feb 17.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited

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Academic Journal

TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome.

  • Authors : Ng CM; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Cheng A

Subjects: Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*pathology ; Microfilament Proteins/Microfilament Proteins/Microfilament Proteins/*metabolism ; Mitral Valve Prolapse/Mitral Valve Prolapse/Mitral Valve Prolapse/*metabolism

  • Source: The Journal of clinical investigation [J Clin Invest] 2004 Dec; Vol. 114 (11), pp. 1586-92.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium:

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Academic Journal

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.

  • Authors : Judge DP; Division of Cardiology, Johns Hopkins University, Baltimore, Maryland 21205, USA.; Biery NJ

Subjects: Gene Dosage* ; Genes, Dominant*; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*immunology

  • Source: The Journal of clinical investigation [J Clin Invest] 2004 Jul; Vol. 114 (2), pp. 172-81.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium:

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Academic Journal

Marfan syndrome and mitral valve prolapse.

  • Authors : Weyman AE; Cardiac Ultrasound Laboratory, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. ; Scherrer-Crosbie M

Subjects: Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*genetics ; Mitral Valve Prolapse/Mitral Valve Prolapse/Mitral Valve Prolapse/*physiopathology; Animals

  • Source: The Journal of clinical investigation [J Clin Invest] 2004 Dec; Vol. 114 (11), pp. 1543-6.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium:

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Academic Journal

Determination of the molecular basis of Marfan syndrome: a growth industry.

  • Authors : Byers PH; Department of Pathology, University of Washington, Seattle, Washington 98195-7470, USA.

Subjects: Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*metabolism ; Microfilament Proteins/Microfilament Proteins/Microfilament Proteins/*metabolism; Animals

  • Source: The Journal of clinical investigation [J Clin Invest] 2004 Jul; Vol. 114 (2), pp. 161-3.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium:

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Academic Journal

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.

  • Authors : Aoyama T; Department of Pathology, Stanford University, California 94305.; Francke U

Subjects: Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*metabolism ; Microfilament Proteins/Microfilament Proteins/Microfilament Proteins/*biosynthesis; Cells, Cultured

  • Source: The Journal of clinical investigation [J Clin Invest] 1994 Jul; Vol. 94 (1), pp. 130-7.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium:

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Academic Journal

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

  • Authors : Milewicz DM; Department of Internal Medicine, University of Texas-Houston Medical School 77030, USA.; Grossfield J

Subjects: Point Mutation* ; Protein Processing, Post-Translational*; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*genetics

  • Source: The Journal of clinical investigation [J Clin Invest] 1995 May; Vol. 95 (5), pp. 2373-8.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium:

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Academic Journal

An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.

Subjects: Chromosomes, Human, Pair 15*; Epidermal Growth Factor/Epidermal Growth Factor/Epidermal Growth Factor/*genetics ; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*genetics

  • Source: The Journal of clinical investigation [J Clin Invest] 1994 Aug; Vol. 94 (2), pp. 709-13.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium:

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Academic Journal

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

Subjects: Extracellular Matrix/Extracellular Matrix/Extracellular Matrix/*metabolism ; Fibroblasts/Fibroblasts/Fibroblasts/*metabolism ; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*metabolism

  • Source: The Journal of clinical investigation [J Clin Invest] 1992 Jan; Vol. 89 (1), pp. 79-86.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium:

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Academic Journal

A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome.

  • Authors : Phillips CL; Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.; Shrago-Howe AW

Subjects: Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*genetics ; Procollagen/Procollagen/Procollagen/*genetics; Adult

  • Source: The Journal of clinical investigation [J Clin Invest] 1990 Nov; Vol. 86 (5), pp. 1723-8.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium:

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  • 1-10 of  140 results for ""MARFAN syndrome""