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pro vyhledávání: '"Lee Anna Jones"'
Autor:
J. Skare, Thomas Ericsson, Lawreen H. Connors, Lee Anna Jones, Martha Skinner, W. David Lewis
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1407:185-192
Variant forms of the plasma protein transthyretin (TTR) are associated with the most frequently occurring type of familial systemic amyloidosis. Organ system involvement in transthyretin type amyloidosis (ATTR) is often similar to that which occurs i
Autor:
Martha Skinner, Jennifer A. Harding, Ilze B. Skare, Lee Anna Jones, Aubrey Milunsky, Alan S. Cohen, James Skare
Publikováno v:
Ophthalmology. 99:503-508
An inherited type of amyloidosis was suspected in an individual of Italian descent who presented with vitreous opacities. Although no family history of amyloidosis was apparent, the patient's transthyretin gene was examined and found not to possess a
Autor:
Lee Anna Jones, Jennifer J. Anderson, Ming Wang, Martha Skinner, Caryn A. Libbey, Alan S. Cohen, Rodney H. Falk, Robert W. Simms
Publikováno v:
The American journal of medicine. 100(3)
Purpose A clinical trial designed to test whether treatment with melphalan, prednisone, and colchicine (MPC) is superior to colchicine (C) alone was performed in patients with primary amyloidosis (AL), a nonmalignant plasma cell dyscrasia. Patients a
Autor:
Lee Anna Jones, Aubrey Milunsky, Kelly Kane, Alan B. Cohen, Martha Skinner, Myles N, James Skare
Publikováno v:
Clinical genetics. 45(6)
A family with familial amyloidotic polyneuropathy (FAP) was previously found to have a substitution of asparagine for histidine at position 90 of transthyretin. Members with his90asn developed FAP. However, close examination of the transthyretin gene
Autor:
Kelly Kane, Shyr-Te Ju, Jessica Kasirsky, Robert W. Simms, Alan S. Cohen, Roger L. Jenkins, W. David Lewis, Lee Anna Jones, Martha Skinner, Rodney H. Falk
Publikováno v:
Annals of internal medicine. 120(2)
Autor:
Lee Anna Jones, Alan S. Cohen
Publikováno v:
Current opinion in rheumatology. 5(1)
Major advances of the past year in the amyloidoses include a better understanding of the polymorphism of the acute-phase reactant serum amyloid A protein and the appearance of a new mouse model for primary amyloidosis. The list of single point mutati
Autor:
Aubrey Milunsky, Jennifer A. Harding, Lee Anna Jones, J. C. Skara, Martha Skinner, Alan S. Cohen
Publikováno v:
Clinical genetics. 41(2)
Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M. Familial amyloid polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet 1992:41: 70–73. Familial amyloidotic polyneuro
Autor:
Alan S. Cohen, Lee Anna Jones
Publikováno v:
Current opinion in rheumatology. 3(1)
Amyloidosis is a disease involving the fibrillar deposition of proteins in a manner that uniformly leads to the presence of green birefringence on polarization microscopy after staining the involved tissues with Congo red. In the year summarized, a w
Autor:
Alan S. Cohen, J. M. Milunsky, Ilze B. Skare, J. C. Skare, A. Milunsky, Martha Skinner, Jennifer A. Harding, Lee Anna Jones
Publikováno v:
Amyloid and Amyloidosis 1990 ISBN: 9789401054508
A new transthyretin variant which lost an Sph I cleavage site within exon 3 has been characterized. A 260bp sequence containing exon 3 was amplified using the polymerase chain rection, and the variant was found to possess a Bsm I cleavage site not pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cc9cdd4fb26d45ef952850ec97dbd20
https://doi.org/10.1007/978-94-011-3284-8_150
https://doi.org/10.1007/978-94-011-3284-8_150
Publikováno v:
Amyloid and Amyloidosis 1990 ISBN: 9789401054508
We have studied a patient from Massachusetts with hereditary systemic amyloidosis significant for renal dysfunction and liver infiltration culminating in hepatic failure and death at the age of 43 years, with no history of peptic ulcer disease or per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32fcbca27585e4723f19411b385edd05
https://doi.org/10.1007/978-94-011-3284-8_97
https://doi.org/10.1007/978-94-011-3284-8_97