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Articles 1 - 3 of 3
Full-Text Articles in Hematology
Glanzmann Thrombasthenia. Cooperation Between Sequence Variants In Cis During Splice Site Selection., Ying Jin, Harry C. Dietz, Robert A. Montgomery, William R. Bell, Iain Mcintosh, Barry Coller, Paul F. Bray
Glanzmann Thrombasthenia. Cooperation Between Sequence Variants In Cis During Splice Site Selection., Ying Jin, Harry C. Dietz, Robert A. Montgomery, William R. Bell, Iain Mcintosh, Barry Coller, Paul F. Bray
Cardeza Foundation for Hematologic Research
Glanzmann thrombasthenia (GT), an autosomal recessive bleeding disorder, results from abnormalities in the platelet fibrinogen receptor, GP(IIb)-IIIa (integrin alpha(IIb)beta3). A patient with GT was identified as homozygous for a G-->A mutation 6 bp upstream of the GP(IIIa) exon 9 splice donor site. Patient platelet GP(IIIa) transcripts lacked exon 9 despite normal DNA sequence in all of the cis-acting sequences known to regulate splice site selection. In vitro analysis of transcripts generated from mini-gene constructs demonstrated that exon skipping occurred only when the G-->A mutation was cis to a polymorphism 116 bp upstream, providing precedence that two sequence variations …
A Polymorphism Of A Platelet Glycoprotein Receptor As An Inherited Risk Factor For Coronary Thrombosis., Ethan J. Weiss, Paul F. Bray, Matthew Tayback, Steven P. Schulman, Thomas S. Kickler, Lewis C. Becker, James L. Weiss, Gary Gerstenblith, Pascal J. Goldschmidt-Clermont
A Polymorphism Of A Platelet Glycoprotein Receptor As An Inherited Risk Factor For Coronary Thrombosis., Ethan J. Weiss, Paul F. Bray, Matthew Tayback, Steven P. Schulman, Thomas S. Kickler, Lewis C. Becker, James L. Weiss, Gary Gerstenblith, Pascal J. Goldschmidt-Clermont
Cardeza Foundation for Hematologic Research
BACKGROUND: Platelet glycoprotein IIb/IIIa is a membrane receptor for fibrinogen and von Willebrand factor, and it has an important role in platelet aggregation. It is known to be involved in the pathogenesis of acute coronary syndromes. Previously, we found a high frequency of a particular polymorphism, PlA2, of the gene encoding glycoprotein IIIa in kindreds with a high prevalence of premature myocardial infarction.
METHODS: To investigate the relation between the PlA2 polymorphism and acute coronary syndromes, we conducted a case-control study of 71 case patients with myocardial infarction or unstable angina and 68 inpatient controls without known heart disease. The …
Localized Tuberculosis And Myelofibrosis With Myeloid Metaplasia : An Extremely Unusual Presentation, Suhail Muzaffar
Localized Tuberculosis And Myelofibrosis With Myeloid Metaplasia : An Extremely Unusual Presentation, Suhail Muzaffar
Department of Pathology and Laboratory Medicine
Myelofibrosis with myeloid metaplasia (MMM) is usually considered primary agnogenic, however, it may be secondary to various diseases, The association of tuberculosis with MMIM is exceedingly rare, however, the pathogenetic relationship between the two is difficult to define. We present a case report showing simultaneous presentation of localized active tuberculosis and MMM The literature on the subject is also reviewed with special emphasis on pathogenic relationship between the two.