Families were relatively open and positive about their use of DI and that their child could obtain the donor's identity. Disclosure did not appear to have a negative impact on the families, regardless of parental sexual orientation and relationship status.
To improve the writing skills of accounting students, we developed a structured writing effectiveness program across three junior level courses in the accounting major: tax, cost, and financial accounting. Writing counted for approximately five percent of the grade in each course and accounting professors discussed grammar, sentence structure, and word choice. A consulting expert on writing also con tributed to the program. We tested the results of our program empirically through both a pretest/posttest design and a control/treatment group comparison. The results provide evidence that our writing across the curriculum project significantly improved the students' writing skills.
Summary. We describe a new mutation in glycoprotein IX (GPIX) in a patient with Bernard±Soulier syndrome (BSS). Sequencing of GPIX revealed a homozygous (T3C) transition at nucleotide 1717 (GenBank/HUMGPIX/M80478), resulting in a Cys 8 (TGT)3Arg (CGT) replacement in the mature peptide. DNA restriction enzyme analysis using BsaAI revealed that the patient was homozygous and that his parents were heterozygous for the defect. This mutation disrupts a putative disulphide bond between the Cys 8 and Cys 12 that would alter the secondary structure of GPIX and which probably accounts for the absence of the GPIb/IX/V complex from the platelet surface in this patient.
We describe a syndrome of thrombocytopenia, bleeding episodes, congenital heart disease and facial dysmorphism in a newborn infant, and trace the cause to mutations on chromosome 22 that involve the gene for platelet glycoprotein Ib beta (GPIb beta, Human Genome Organisation gene symbol GPIBB), a critical component of the von Willebrand factor (vWF) receptor. Fluorescence in situ hybridization in transformed lymphoblasts revealed hemizygous microdeletion of 22q11.2 containing the GP1BB locus. DNA sequencing revealed a C to T transition in the patient's remaining GP1BB allele, predicting a novel proline to serine substitution (Pro96Ser) in the carboxyterminal flanking domain of a leucine-rich repeat. We characterized the mutant GP1BB allele by expression in a cell line (CHO alpha IX) that stably expresses two other components of the vWF receptor, GPIb alpha and GPIX. Flow cytometry and confocal imaging of transfected CHO alpha IX cells demonstrated that P96S GPIb beta abrogates surface assembly of the complex, consistent with platelet flow cytometry studies in the patient. Based on sequence homology to the known crystal structures of two other leucine-rich repeat proteins, the human Nogo receptor and GPIb alpha, we propose a new structural model of GPIb beta. The model refutes earlier assumptions about cysteine-cysteine interactions in the amino-terminal region of GPIb beta, and predicts a hydrophobic patch the burial of which may contribute to proper conformation of the fully assembled vWF receptor complex.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.