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Transcription profiling of mouse deficient for Fibrillin-1

ABSTRACT: Different fibrillin-1 mutant mice

ORGANISM(S): Mus musculus

SUBMITTER: Daniel Judge

PROVIDER: E-GEOD-1852 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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

Ng Connie M CM Cheng Alan A Myers Loretha A LA Martinez-Murillo Francisco F Jie Chunfa C Bedja Djahida D Gabrielson Kathleen L KL Hausladen Jennifer M W JM Mecham Robert P RP Judge Daniel P DP Dietz Harry C HC

The Journal of clinical investigation 20041201 11

Mitral valve prolapse (MVP) is a common human phenotype, yet little is known about the pathogenesis of this condition. MVP can occur in the context of genetic syndromes, including Marfan syndrome (MFS), an autosomal-dominant connective tissue disorder caused by mutations in fibrillin-1. Fibrillin-1 contributes to the regulated activation of the cytokine TGF-beta, and enhanced signaling is a consequence of fibrillin-1 deficiency. We thus hypothesized that increased TGF-beta signaling may contribu ...[more]

PMID: 15546004

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Fibrillin-1 deficient mice

Project description:Different fibrillin-1 mutant mice Keywords: other

2004-10-20 | GSE1852 | GEO

Effect of Tgfbr2 disruption on gene expression in the aorta of Fbn1 wild-type and Fbn1C1039G mice

Project description:We used microarrays to characterize the global changes in gene expression within the ascending aorta of mice due to conditional disruption of TGF-M-NM-2 signaling in smooth muscle and/or due to heterozygous fibrillin-1 mutation. Myh11-CreERT2.Tgfbr2f/f (abbreviated as Cre.Tgfbr2) mice were cross-bred to Fbn1C1039G/+ (abbreviated as Fbn1C/+) mice and treated with vehicle or tamoxifen for 5 d starting at 4 wk of age to generate 4 groups of animals: 1) Cre.Tgfbr2-Veh: controls with intact TGF-M-NM-2 signaling and wild-type fibrillin-1 expression; 2) Cre.Tgfbr2-Tmx: conditional disruption of Tgfbr2 in smooth muscle with wild-type fibrillin-1 expression; 3) Fbn1C1039G.Cre.Tgfbr2-Veh: heterozygous expression of mutant fibrillin-1 with intact TGF-M-NM-2 signaling; and 4) Fbn1C1039G.Cre.Tgfbr2-Tmx: conditional disruption of Tgfbr2 in smooth muscle with heterozygous expression of mutant fibrillin-1. The animals were euthanized at 6 weeks of age and their ascending aortas (from above the coronary arteries to the first arch branch) were collected and total RNA was extracted.

2013-05-31 | E-GEOD-36778 | biostudies-arrayexpress

Proteomic analysis of primary human microvascular endothelial cells (HMVECs) stimulated for 24â€‰h with either 50 ï�g/mL recombinant Fibrillin-1 C-terminal fragment or 25â€‰ng/ml VEGF-A compared to unstimulated cells.

Project description:Mutations in the fibrillin-1 gene result in cardiovascular, ocular, and skeletal abnormalities in Marfan syndrome. Here we show that a fibrillin-1 mutation also alters the neovessel formation. In the mouse retina vascularization model, fibrillin-1 is detected at the basement membrane underlying the angiogenic front and around arterioles. In Fbn1C1041G/+ mice, a model of Marfan disease, the microvasculature is altered at these sites. At the front, endothelial tip-cell sprouting and branching are decreased, and we show that mutant fibrillin-1 delays angiogenesis by affecting Notch signalling. Supplying the growing vasculature of Fbn1C1041G/+ mice with a C-terminal fragment of fibrillin-1 corrects all defects. In vitro, the C-terminal fragment of fibrillin-1 also displays pro-angiogenic activities on microvascular endothelial cell. Our data establish that fibrillin-1 performs essential functions in microvessel formation and integrity and that mutant fibrillin-1-induced defects can be rescued pharmacologically.

2023-05-31 | PXD029834 | Pride

Transcription profiling of lungs of wild type and Mg-delta strain of fibrillin-1deficient mice to identify pathways that are critical for normal alveolar septation

Project description:The Mg-delta strain of fibrillin-1 deficient mice display an early defect in alveolar septation. This study attempts to identify expression patterns in the mutant mouse lung compared to their wild-type littermates that suggest pathways that are critical for normal septation. This experiment focuses on postnatal days 1 and 5. Other time points will be added at a later date.

2007-11-06 | E-GEOD-479 | biostudies-arrayexpress

Mus musculus

Project description:Fibrillin-1 deficient mice

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Whole Exome Sequencing of cohorts of Mutant Braf mouse model melanoma DNA and germline DNA.

Project description:Whole Exome Sequencing of cohorts of Mutant Braf mouse model melanoma DNA and germline DNA. The cohorts are (1) Mutant Braf mouse model melanomas, (2) Mutant Braf mouse model melanomas from UVR exposed mice and (3) Mutant Braf mouse model melanomas from UVR exposed, sunscreen protected mice.

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Transcription profiling of mouse kidneys from Glis2-deficient animals

Project description:Glis2 is a member of the Gli-similar (Glis) subfamily of Kruppel-like zinc finger transcription factors. To obtain insights into the physiological functions of Glis2, mice deficient in Glis2 expression were generated. These mutant mice develop progressive renal disease associated with fibrosis and inflammation. Gene expression profiles were examined to identify changes in gene expression at early stages of progressive renal disease in Glis2 mutant mice. Experiment Overall Design: To analyze changes in gene expression, microarray analysis was performed using RNA from kidneys of PND25 and PND60 wild type and Glis2-mutant mice. Experiment Overall Design: Gene expression profiles were compared between kidneys of PND25 wt and Glis2 mutant mice and between PND60 wt and Glis2 mutants. RNA from three kidneys were pooled. RNA from two independent experiments was used and each microarray analysis was performed in duplicate.

2009-01-14 | E-GEOD-8454 | biostudies-arrayexpress

Gene expression profiling of temporal lobes of wfs1 deficient mice

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2010-03-09 | GSE15293 | GEO

Proteome profiling of wild type and lumican-deficient mouse corneas.

Project description:To elucidate how the deficiency of a major corneal proteoglycan, lumican, affects corneal homeostasis, we used mass spectrometry to derive the proteome profile of the lumican-deficient and the heterozygous mouse corneas and compared these to the wild type corneal proteome. 2108 proteins were quantified in the mouse cornea. Selected proteins and transcripts were investigated by Western blot and quantitative RT-PCR, respectively. We observed major changes in the composition of the stromal extracellular matrix (ECM) proteins in the lumican-deficient mice. Lumican deficiency altered cellular proteins in the stroma and the corneal epithelium. The ECM changes included increases in fibril forming collagen type I, Collagen type VI, fibromodulin, perlecan, laminin ??, collagen type IV, nidogen/entactin and anchoring collagen type VII in the Lum?/? and the Lum?/? mouse corneas, while the stromal proteoglycans decorin, biglycan and keratocan were decreased in the Lum?/?( corneas. Cellular protein changes included increases in alcohol dehydrogenase, superoxide dismutase and decreases in epithelial cytokeratins 8 and 14. We also detected proteins that are novel to the cornea. The proteomes will provide an insight into the lumican-deficient corneal phenotype of stromal thinning and loss of transparency and a better understanding of pathogenic changes in corneal and ocular dystrophies.

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Proteolysis of fibrillin-2 microfibrils is essential for normal skeletal development

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