Search Results - "MILEWICZ, D. M"

Comparison of 10 murine models reveals a distinct biomechanical phenotype in thoracic aortic aneurysms by Bellini, C., Bersi, M. R., Caulk, A. W., Ferruzzi, J., Milewicz, D. M., Ramirez, F., Rifkin, D. B., Tellides, G., Yanagisawa, H., Humphrey, J. D.

“…Thoracic aortic aneurysms are life-threatening lesions that afflict young and old individuals alike. They frequently associate with genetic mutations and are…”
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The molecular genetics of Marfan syndrome and related disorders by Robinson, P N, Arteaga-Solis, E, Baldock, C, Collod-Béroud, G, Booms, P, De Paepe, A, Dietz, H C, Guo, G, Handford, P A, Judge, D P, Kielty, C M, Loeys, B, Milewicz, D M, Ney, A, Ramirez, F, Reinhardt, D P, Tiedemann, K, Whiteman, P, Godfrey, M

“…Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular,…”
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Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations by Tran-Fadulu, V, Pannu, H, Kim, D H, Vick, 3rd, G W, Lonsford, C M, Lafont, A L, Boccalandro, C, Smart, S, Peterson, K L, Hain, J Zenger, Willing, M C, Coselli, J S, LeMaire, S A, Ahn, C, Byers, P H, Milewicz, D M

“…Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic…”
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Loss of smooth muscle α-actin effects on mechanosensing and cell–matrix adhesions by Massett, MP, Bywaters, BC, Gibbs, HC, Trzeciakowski, JP, Padgham, S, Chen, J, Rivera, G, Yeh, AT, Milewicz, DM, Trache, A

“…Mutations in ACTA2, encoding smooth muscle α-actin, are a frequent cause of heritable thoracic aortic aneurysm and dissections. These mutations are associated…”
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R179H mutation in ACTA2 expanding the phenotype to include prune‐belly sequence and skin manifestations by Richer, J., Milewicz, D.M., Gow, R., de Nanassy, J., Maharajh, G., Miller, E., Oppenheimer, L., Weiler, G., O'Connor, M.

“…Mutations in ACTA2 (smooth muscle cell—specific isoform of α‐actin) lead to a predisposition to thoracic aortic aneurysms and other vascular diseases. More…”
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Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension by Wallace, S., Guo, D.-C., Regalado, E., Mellor-Crummey, L., Bamshad, M., Nickerson, D.A., Dauser, R., Hanchard, N., Marom, R., Martin, E., Berka, V., Sharina, I., Ganesan, V., Saunders, D., Morris, S.A., Milewicz, D.M.

“…Moyamoya disease (MMD) is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and…”
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Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections by Regalado, E.S., Guo, D.C., Santos-Cortez, R.L.P., Hostetler, E., Bensend, T.A., Pannu, H., Estrera, A., Safi, H., Mitchell, A.L., Evans, J.P., Leal, S.M., Bamshad, M., Shendure, J., Nickerson, D.A., Milewicz, D.M.

“…Marfan syndrome (MFS) due to mutations in FBN1 is a known cause of thoracic aortic aneurysms and acute aortic dissections (TAAD) associated with pleiotropic…”
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Familial thoracic aortic dilatations and dissections: A case control study by Biddinger, Alan, Rocklin, Marnie, Coselli, Joseph, Milewicz, Dianna M.

“…Purpose: Evidence suggesting that genetic factors contribute to the development of common disorders can be obtained by demonstrating familial aggregation of…”
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FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly by Gupta, P A, Wallis, D D, Chin, T O, Northrup, H, Tran-Fadulu, V T, Towbin, J A, Milewicz, D M

“…The most common cardiovascular complication in patients with MFS is progressive dilatation of the ascending aorta, initially involving the sinuses of Valsalva…”
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Marfan syndrome : long-term survival and complications after aortic aneurysm repair by FINKBOHMER, R, JOHNSTON, D, CRAWFORD, E. S, COSELLI, J, MILEWICZ, D. M

“…Development of surgical therapy for aortic aneurysms and dissections has led to treatment of the life-threatening cardiovascular complications associated with…”
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Fibrillin-2 ( FBN2 ) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly by Putnam, Elizabeth A, Zhang, Hui, Ramirez, Francesco, Milewicz, Dianna M

“…Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome (MFS) and characterized by…”
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Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms by MILEWICZ, D. M, MICHAEL, K, FISHER, N, COSELLI, J. S, MARKELLO, T, BIDDINGER, A

“…Mutations in the FBN1 gene are the cause of the Marfan syndrome, an autosomal dominant disorder with skeletal, ocular, and cardiovascular complications…”
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MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II by Pannu, Hariyadarshi, Tran-Fadulu, Van, Papke, Christina L., Scherer, Steve, Liu, Yaozhong, Presley, Caroline, Guo, Dongchuan, Estrera, Anthony L., Safi, Hazim J., Brasier, Allan R., Vick, G. Wesley, Marian, A.J., Raman, C.S., Buja, L. Maximilian, Milewicz, Dianna M.

“…Non-syndromic thoracic aortic aneurysms and dissections (TAADs) are inherited in an autosomal dominant manner in ∼20% of cases. Familial TAAD is genetically…”
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Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections by Milewicz, Dianna M., Chen, Hua, Park, Eun-Sook, Petty, Elizabeth M., Zaghi, Hedayatollah, Pai, G.Shashidhar, Willing, Marcia, Patel, Vasant

“…Autosomal dominant inheritance of thoracic aortic aneurysms and dissections occurs in subjects with Marfan syndrome, which results from mutations in the FBN1…”
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Systemic Sclerosis (Scleroderma): Specific Autoantigen Genes Are Selectively Overexpressed in Scleroderma Fibroblasts by Zhou, Xiaodong, Tan, Filemon K, Xiong, Momiao, Milewicz, Dianna M, Feghali, Carol A, Fritzler, Marvin J, Reveille, John D, Arnett, Frank C

“…The pathogenesis of systemic sclerosis (SSc) involves complex interactions between activated fibroblasts eventually leading to fibrosis, and impaired immune…”
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Genetics of cardiovascular disease by Milewicz, D M, Seidman, C E

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Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15 by MILEWICZ, D. M, DUVIC, M

“…Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features…”
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Marfan syndrome : defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts by MCGOOKEY MILEWICZ, D, PYERITZ, R. E, CRAWFORD, E. S, BYERS, P. H

“…We studied the synthesis, secretion, and aggregation into the extracellular matrix of fibrillin by dermal fibroblasts from 26 probands with the Marfan…”
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The potential role of the elastic fiber system in adolescent idiopathic scoliosis by Hadley-Miller, N, Mims, B, Milewicz, D M

“…To assess its possible role in the etiology of adolescent idiopathic scoliosis, the elastic fiber system of the ligamentum flavum was examined in twenty-three…”
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Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis by Miller, N H, Mims, B, Child, A, Milewicz, D M, Sponseller, P, Blanton, S H

“…Adolescent idiopathic scoliosis is a genetic disorder of unknown etiology. Scoliosis is a clinical feature of inherited connective-tissue disorders including…”
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