Zobrazeno 1 - 10 of 17 pro vyhledávání: '"D. M. Milewicz"'
1
Loss of smooth muscle α-actin effects on mechanosensing and cell–matrix adhesions
Autor: Gonzalo M. Rivera, Holly C. Gibbs, Jerome P. Trzeciakowski, J Chen, M P Massett, Andreea Trache, Alvin T. Yeh, Samuel Padgham, D M Milewicz, Briana C. Bywaters
Publikováno v: Exp Biol Med (Maywood)
Mutations in ACTA2, encoding smooth muscle α-actin, are a frequent cause of heritable thoracic aortic aneurysm and dissections. These mutations are associated with impaired vascular smooth muscle cell function, which leads to decreased ability of th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e484052b593331a4e00cfe9a08d38be6
https://europepmc.org/articles/PMC7370591/
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3
Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma)
Autor: D D, Wallis, F K, Tan, C M, Kielty, M D, Kimball, F C, Arnett, D M, Milewicz
Publikováno v: Arthritis and rheumatism. 44(8)
To determine if there are abnormalities in fibrillin 1-containing microfibrils in the extracellular matrix (ECM) of primary dermal fibroblasts explanted from patients with systemic sclerosis (SSc).Explanted fibroblasts from unaffected skin of 12 SSc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4658de47adacd3c843cab9c7a00eae98
https://pubmed.ncbi.nlm.nih.gov/11508439
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4
FBN1 exon 2 splicing error in a patient with Marfan syndrome
Autor: D, Guo, F K, Tan, A, Cantu, S E, Plon, D M, Milewicz
Publikováno v: American journal of medical genetics. 101(2)
Mutations in FBN1 cause the autosomal dominant condition, Marfan syndrome. A single-base mutation that results in a skipping of exon 2 of FBN1 was found in a Marfan patient. By sequencing this proband's entire FBN1 gene and comparing the mutated DNA
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::645438a2777d59c32cc8b7184b7925f9
https://pubmed.ncbi.nlm.nih.gov/11391655
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5
Sterols in blood of normal and Smith-Lemli-Opitz subjects
Autor: B, Ruan, W K, Wilson, J, Pang, N, Gerst, F D, Pinkerton, J, Tsai, R I, Kelley, F G, Whitby, D M, Milewicz, J, Garbern, G J, Schroepfer
Publikováno v: Journal of lipid research. 42(5)
Smith-Lemli-Opitz syndrome (SLOS) is a hereditary disorder in which a defective gene encoding 7-dehydrocholesterol reductase causes the accumulation of noncholesterol sterols, such as 7- and 8-dehydrocholesterol. Using rigorous analytical methods in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6839319f44fd8b5e07b3652540e12831
https://pubmed.ncbi.nlm.nih.gov/11352988
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6
Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations
Autor: F K, Tan, N, Wang, M, Kuwana, R, Chakraborty, C A, Bona, D M, Milewicz, F C, Arnett
Publikováno v: Arthritis and rheumatism. 44(4)
Previously, we demonstrated with the use of microsatellite markers that a 2-cM haplotype on chromosome 15q containing the fibrillin 1 gene (FBN1) was strongly associated with systemic sclerosis (SSc) in the Choctaw, a population with high SSc prevale
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c259a8910c6b32edbc7fff31da832678
https://pubmed.ncbi.nlm.nih.gov/11315929
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8
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent
Autor: L C, Adès, R, Davies, E A, Haan, K J, Holman, K C, Watson, D, Sreetharan, S N, Cao, D M, Milewicz, J F, Bateman, A A, Chiodo, M, Eccles, L, McNoe, M, Harbord
Publikováno v: Clinical dysmorphology. 8(4)
We describe a 14-year-old male with dissection of the descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::10bf952d1d821fc6ed68b76d429c6903
https://pubmed.ncbi.nlm.nih.gov/10532176
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9
Familial thoracic aortic aneurysms and dissections
Autor: J A, Prahlow, J J, Barnard, D M, Milewicz
Publikováno v: Journal of forensic sciences. 43(6)
Rupture of thoracic aortic aneurysms and/or dissections is not rare, occurring in approximately 0.6% of all medicolegal autopsies. Most forensic pathologists are aware of the association between thoracic aortic aneurysms/dissections and trauma, ather
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8065fb5c815c9bbf23c8b48242e4da00
https://pubmed.ncbi.nlm.nih.gov/9846406
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10
Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population
Autor: F K, Tan, D N, Stivers, M W, Foster, R, Chakraborty, R F, Howard, D M, Milewicz, F C, Arnett
Publikováno v: Arthritis and rheumatism. 41(10)
To localize disease genes for scleroderma, or systemic sclerosis (SSc), in a population of Choctaw Native Americans with a high prevalence of SSc, in which there is evidence of a possible founder effect.A candidate gene approach was used in which mic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5e4571a77f466665c60c3d3636246979
https://pubmed.ncbi.nlm.nih.gov/9778214
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