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  • 1
    Electronic Resource
    Electronic Resource
    The cyclization of mouse satellite DNA (1971)
    Springer
    Chromosoma 33 (1971), S. 284-296 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Sheared fragments of mouse satellite DNA can form rings and other circular structures by several techniques. „Folded rings“ are formed if the sheared fragments are simply annealed, indicating that shearing produces single-chain terminals, and that the repetitious sequence is shorter than the exposed ends. The occurrence of folded rings can be sharply reduced by prior treatment with single-chain specific endonuclease, and significantly increased if the fragments are treated with exonuclease III. Denaturation of satellite DNA followed by reassociation of the single chains results in the formation of “slipped rings”. These characteristics of the DNA lead to the conclusion that the sequences of the mouse satellite DNA are arranged in a tandemly repetitious manner.-About 20% of the DNA fragments from the “main band” cyclize after partial exonuclease III degradation, but not before this treatment. This indicates that a large fraction of the main band DNA is tandemly repetitious, but that the length of the repetitious sequence is on the average longer than the single-chain terminals produced by shearing.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284946
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  • 2
    Electronic Resource
    Electronic Resource
    The Marfan Syndrome (2000)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Medicine 51 (2000), S. 481-510 
    Details
    ISSN: 0066-4219
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Medicine
    Notes: Abstract The Marfan syndrome (MFS), initially described just over 100 years ago, was among the first conditions classified as a heritable disorder of connective tissue. MFS lies at one end of a phenotypic continuum, with people in the general population who have one or another of the features of MFS at the other end, and those with a variety of other conditions in between. Diagnosis of MFS and these other conditions remains based on clinical features. Mutations in FBN1, the gene that encodes fibrillin-1, are responsible for MFS and (in a few patients) other disorders in the continuum. In addition to skeletal, ocular, and cardiovascular features, patients with MFS have involvement of the skin, integument, lungs, and muscle tissue. Over the past 30 years, evolution of aggressive medical and surgical management of the cardiovascular problems, especially mitral valve prolapse, aortic dilatation, and aortic dissection, has resulted in considerable improvement in life expectancy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.med.51.1.481
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  • 3
    Electronic Resource
    Electronic Resource
    Current Diagnosis and Prescription for the Marian Syndrome: Aortic Root and Valve Replacement (1994)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cardiac surgery 9 (1994), S. 0 
    Details
    ISSN: 1540-8191
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Since 1976, the procedure of choice for patients with Marian aneurysm of the ascending aorta at this institution has been the Bentall procedure or its modification. One hundred seventy-four Marian patients have had ascending aortic aneurysm repair with a prosthetic composite graft. An additional four children and two adults have had aortic root replacement with a cry preserved homograft. Thirty-seven (21%) patients came to operation with an acute or chronic dissection involving the ascending aorta. Thirty-one (17%) patients having aortic root replacement also had mitral valve repair or replacement. The first 86 patients in the series had a hemostatic Bentall wrap constructed; however, in the last 88 patients, the ascending aorta has been transected completely and the aortic wall tacked loosely over the composite graft. It is our preference to construct a direct end-to-side anastomosis of each coronary ostium to the side of the composite graft. In the past, we used the Cabrol interposed graft for low-lying coronary ostia, but currently favor the “button technique” for this procedure. One hundred fifty-six of 180 patients underwent elective root replacement with no hospital mortality. Twenty-four patients underwent urgent or emergency surgery; 17 of these patients with acute dissection or rupture underwent emergency surgery. Two of these patients with rupture died intraoperatively. Therefore, overall hospital mortality among the 180 patients was 1.1%. There have been 14 late deaths among 178 patients discharged from the hospital (7.9%). Five of these late deaths occurred among our first 11 patients operated on between 1976 and 1979. Since 1980, there have been nine late deaths among 167 patients (5.4%). Three of these nine late deaths were related to late dissection of the distal unoperated thoracic or abdominal aorta. Satisfactory results can be achieved in patients with Marian aneurysms using the Bentall operative repair, and long-term results have been improved further by elimination of the aortic wrap. Close follow-up of the thoracic and abdominal aorta for late dilatation and dissection remains an essential part of the management of Marian patients. (J Card Surg 1994;9[Suppl]:177–781)
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1540-8191.1994.tb00921.x
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  • 4
    Electronic Resource
    Electronic Resource
    Composite Graft Repair of Marfan Aneurysm of the Ascending Aorta: Results in 150 Patients (1994)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cardiac surgery 9 (1994), S. 0 
    Details
    ISSN: 1540-8191
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: One hundred fifty consecutive Marfan patients undergoing composite graft repair of an ascending aorta aneurysm are reported. Twenty-six of the 150 patients had a preoperative dissection of the ascending aorta. There were no early deaths among 138 patients undergoing elective composite graft repair. There was one early death among 12 patients undergoing urgent operation; this patient arrived at the hospital with a rupturing aneurysm. Twenty-four of the 150 patients had mitral procedures; there were no early deaths in this group. There have been 14 late deaths among the 149 hospital survivors (9%). Actuarial survival of 150 patients at 1, 5, 10, and 14 years was 93%, 92%, 81%, and 73% respectively. Risk factors for early or late death were identified by multivariate analysis and only New York Heart Association class (III or IV) and male gender emerged as significant independent predictors of mortality. Late complications directly related to the composite graft have been gratifyingly low; only 2 patients had coronary dehiscence and 3 had thromboembolic events. Endocarditis emerged as an important late complication in 8 patients (5%). Two patients were successfully treated with antibiotics, 3 died before widespread availability of cryopreserved homo-grafts, and 3 patients treated with antibiotics and homograft root replacement have had no evidence of recurrent infection. Seven patients with dissection in this series had aortic diameters of 6.5 cm or less. This experience supports the concept that composite graft repair in Marfan patients is mandated when the aneurysm reaches 5.5 to 6 cm, even in the asymptomatic patient. With a family history of dissection, operative intervention should occur when the aneurysm reaches 5 cm in diameter. (J Card Surg 1994;9:482–489)
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1540-8191.1994.tb00880.x
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  • 5
    Electronic Resource
    Electronic Resource
    Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene (1991)
    [s.l.] : Nature Publishing Group
    Nature 352 (1991), S. 337-339 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] FIG. 1 Summary of two-point linkage relationships between fibrillin polymorphism, Marfan phenotype and five other polymorphic markers on chromosome 15. Map distances (expressed as recombination fractions) and lod scores (in parentheses) are shown for each two-point analysis. Four ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/352337a0
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  • 6
    Electronic Resource
    Electronic Resource
    Enzyme therapy: Treatment of inborn errors of metabolism by transplantation (1984)
    [s.l.] : Nature Publishing Group
    Nature 312 (1984), S. 405-406 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] FUNCTIONAL deficiency of a specific enzyme has been found in the majority of the more than 200 inborn errors of human metabolism. Potential treatments of the resulting clinical abnormalities are nearly as numerous as the different molecular pathologies underlying these enzymo-pathies. The paper by ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/312405a0
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  • 7
    Electronic Resource
    Electronic Resource
    Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta (1999)
    [s.l.] : Nature America Inc.
    Nature medicine 5 (1999), S. 309-313 
    Details
    ISSN: 1546-170X
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] In principle, transplantation of mesenchymal progenitor cells would attenuate or possibly correct genetic disorders of bone, cartilage and muscle, but clinical support for this concept is lacking. Here we describe the initial results of allogeneic bone marrow transplantation in three children ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/6529
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  • 8
    Electronic Resource
    Electronic Resource
    Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome (1995)
    [s.l.] : Nature Publishing Group
    Nature genetics 9 (1995), S. 232-233 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Sir — Fibroblast growth factorreceptor 2 (FGFR2) is a single membrane spanning tyrosine kinase with alternatively spliced variants. Mutations in FGFR2 have been found in Crouzon syndrome1,2 and other craniosynostotic conditions3. A recurrent mutation is a G to A transition that causes a ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0395-232
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