Abstract:
:Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with inversions were carriers of the abnormal factor VIII gene; when only mothers of nonfamilial cases were studied, 9 de novo inversions in maternal germ cells were observed among 225 cases (approximately 1 de novo maternal origin of the inversion in 25 mothers of sporadic cases). When the maternal grandparental origin was examined, the inversions occurred de novo in male germ cells in 69 cases and female germ cells in 1 case. The presence of factor VIII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors (130 of 642 [20%]) than patients with severe hemophilia A without inversions (131 of 821 [16%]).
journal_name
Bloodjournal_title
Bloodauthors
Antonarakis SE,Rossiter JP,Young M,Horst J,de Moerloose P,Sommer SS,Ketterling RP,Kazazian HH Jr,Négrier C,Vinciguerra C,Gitschier J,Goossens M,Girodon E,Ghanem N,Plassa F,Lavergne JM,Vidaud M,Costa JM,Laurian Y,Linsubject
Has Abstractpub_date
1995-09-15 00:00:00pages
2206-12issue
6eissn
0006-4971issn
1528-0020journal_volume
86pub_type
杂志文章,多中心研究相关文献
BLOOD文献大全abstract::We have previously shown that coculture of human embryonic stem cells (hESCs) for 14 days with immortalized fetal hepatocytes yields CD34(+) cells that can be expanded in serum-free liquid culture into large numbers of megaloblastic nucleated erythroblasts resembling yolk sac-derived cells. We show here that these pri...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2007-07-102087
更新日期:2008-02-15 00:00:00
abstract::Defective function of dendritic cells (DC) in cancer has been recently described and may represent one of the mechanisms of tumor evasion from immune system control. We have previously shown in vitro that vascular endothelial growth factor (VEGF), produced by almost all tumors, is one of the tumor-derived factors resp...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1998-12-01 00:00:00
abstract::Colony forming cells (CFC) with high proliferative potential have been detected in nutrient agar cultures of human bone marrow cells containing recombinant human interleukin-3 (IL-3) and granulocyte macrophage colony stimulating factor (GM-CSF). These CFC were detected by the formation of large colonies with diameters...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1989-08-01 00:00:00
abstract::Similar to endothelial cells (ECs), vascular endothelial growth factor (VEGF) induces Bcl-2 expression on VEGF receptor-positive (VEGFR(+)) primary leukemias and cell lines, promoting survival. We investigated the molecular pathways activated by VEGF on such leukemias, by performing a gene expression analysis of VEGF-...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v99.7.2532
更新日期:2002-04-01 00:00:00
abstract::Although the genes for four hematopoietic colony-stimulating factors (CSFs) have been cloned, neither the mechanism of the regulation of their production nor their cellular origins have been established with certainty. Monocytes are known to produce colony-stimulating and burst-promoting activities, as well as several...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1988-10-01 00:00:00
abstract::Vascular endothelial growth factor (VEGF) is highly expressed in vascular remodeling processes and accelerates reendothelialization after mechanical denudation. Two VEGF tyrosine kinase receptors have been reported-fms-like-tyrosine kinase-1 (Flt-1) and kinase domain region (KDR). Little is known about the regulation ...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:2000-06-01 00:00:00
abstract::Adhesion to extracellular ligands through integrins regulates cell shape, migration, growth, and survival. How integrins transmit signals in the outside-to-in direction remains unknown. Whereas in resting integrins the alpha and beta subunit transmembrane domains are associated, ligand binding promotes dissociation an...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2007-03-080077
更新日期:2007-10-01 00:00:00
abstract::A qualitative defect of antithrombin III (AT III) has been demonstrated over three generations in eight members of an Italian family by the discrepancy between a normal amount of antigen and decreased antithrombin and anti-Xa activity in the presence or in the absence of heparin. By two-dimensional immunoelectrophores...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1985-02-01 00:00:00
abstract::Tn polyagglutinability syndrome is an acquired condition where erythrocytes express Tn neo-antigen and become susceptible to hemagglutination by the naturally occurring anti-Tn present in normal sera. Early studies had indicated that O-linked N-acetyl galactosamine was the sole serologic Tn determinant, but more recen...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1992-11-01 00:00:00
abstract::The development of alloantibodies against von Willebrand factor (VWF) represents a rare but serious complication of treatment of von Willebrand disease (VWD), occurring in ~5% to 10% of type 3 VWD patients. Affected patients can present with a range of symptoms, including lack or loss of hemostatic response to infused...
journal_title:Blood
pub_type: 杂志文章,评审
doi:10.1182/blood-2012-10-462085
更新日期:2013-08-01 00:00:00
abstract::A 64-yr-old female developed acute myeloblastic leukemia following radiation and drug therapy for colon carcinoma. The patient was heterozygous for glucose-6-phosphate dehydrogenase (G-6-PD) and displayed types A and B isoenzymes in nonhematopoietic tissue. In contrast, only type B G-6-PD was observed in peripheral bl...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1978-10-01 00:00:00
abstract::Previous results, presented in abstract form, indicate that replacement of thromboplastin with a mixture of phospholipid and truncated soluble tissue factor apoprotein results in a coagulation assay that can directly measure plasma factor VIIa levels without interference from zymogen factor VII (Atherosclerosis Thromb...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1992-07-01 00:00:00
abstract::In order to determine the prognostic significance of thrombocytosis in idiopathic sideroblastic anemia, the clinical courses of 17 patients were reviewed. Six patients (36%) had thrombocytosis, and none developed acute leukemia. Nine patients (53%) had normal platelet counts, and one developed acute leukemia. Two pati...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1977-09-01 00:00:00
abstract::A strategy to phenotype rare populations of hematopoietic cells expressing the cell-surface marker CD34 was studied. The antigenic phenotype of umbilical core blood (CB) CD34+ cells was investigated using flow cytometry and compared with the mRNA-phenotype determined by cDNA-polymerase chain reaction (cDNA-PCR) analys...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1994-04-15 00:00:00
abstract::The transcription repressor BCL-6 is known to play critical roles in B-cell lymphomagenesis, germinal center formation, and balanced Th1/Th2 differentiation. In macrophages, although BCL-6 has also been shown to regulate the expression of several chemokine genes, its function in other aspects of macrophage biology has...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2004-08-3171
更新日期:2005-02-15 00:00:00
abstract::Types A and B Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM; E.C. 3.1.4.12) and the resultant lysosomal accumulation of sphingomyelin. Type A disease is a fatal, neurodegenerative disorder of infancy, whereas type B disease has no neurologic manifestations and is character...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1992-10-15 00:00:00
abstract::We have applied a proteomics approach to analyze signaling cascades in human platelets stimulated by thrombin receptor activating peptide (TRAP). By analyzing basal and TRAP-activated platelets using 2-dimensional gel electrophoresis (2-DE), we detected 62 differentially regulated protein features. From these, 41 coul...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2003-07-2392
更新日期:2004-03-15 00:00:00
abstract::The purpose of this study was to define, in a phase I study in leukemia, the maximally tolerated dose (MTD), major toxicities, and possible antitumor activity of Topotecan, a new topoisomerase I (topo I) inhibitor. Topotecan was delivered by a 5-day continuous infusion every 3 to 4 weeks to patients with refractory or...
journal_title:Blood
pub_type: 临床试验,杂志文章
doi:
更新日期:1993-03-01 00:00:00
abstract::Several strategies can be used to manage fetal or neonatal alloimmune thrombocytopenia (FNAIT) in subsequent pregnancies. Serial fetal blood sampling (FBS) and intrauterine platelet transfusions (IUPT), as well as weekly maternal IV immunoglobulin infusion (IVIG), with or without additional corticosteroid therapy, are...
journal_title:Blood
pub_type: 杂志文章,评审
doi:10.1182/blood-2016-10-739656
更新日期:2017-03-16 00:00:00
abstract::Tissue-derived adenosine, acting via the adenosine A(2A) receptor (A(2A)R), is emerging as an important negative regulator of T-cell function. In this report, we demonstrate that A(2A)R stimulation not only inhibits the generation of adaptive effector T cells but also promotes the induction of adaptive regulatory T ce...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2007-03-081646
更新日期:2008-01-01 00:00:00
abstract::We have recently demonstrated that IgD(hi) B cells can occupy an extravascular perisinusoidal niche in the bone marrow in addition to the well-established follicular niche in conventional secondary lymphoid organs. The spleen has long been considered to be the site at which newly formed B lymphocytes mature into IgD(h...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2006-05-021089
更新日期:2007-03-15 00:00:00
abstract::To assess the frequency and significance of nonrandom abnormalities of chromosome 9p in childhood acute lymphoblastic leukemia (ALL), we analyzed our experience with 398 consecutive cases with completely banded karyotypes. Forty cases (10%) with abnormalities of 9p were identified: 26 with deletions, nine with unbalan...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1989-07-01 00:00:00
abstract::Perfluorocarbons have shown promise as clinical blood substitutes. Although early experience in Japan with one such product--Fluosol-DA--has been uncomplicated, we observed an adverse pulmonary reaction in the first American patient to receive it and know of similar reactions in two other Americans so treated. Postula...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1982-06-01 00:00:00
abstract::Growth differentiation factor 15 (GDF15) is a divergent member of the transforming growth factor-beta superfamily and has been identified in different contexts as a hypoxia-inducible gene product and as a molecule involved in hepcidin regulation. The biology of iron and oxygen is closely related, and known regulatory ...
journal_title:Blood
pub_type: 临床试验,杂志文章
doi:10.1182/blood-2008-07-170431
更新日期:2009-02-12 00:00:00
abstract::Light-mediated release of signaling ligands, such as chemoattractants, growth factors, and cytokines is an attractive strategy for investigation and therapeutic targeting of leukocyte communication and immune responses. We introduce a versatile optogenetic method to control ligand secretion, combining UV-conditioned e...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2015-11-684852
更新日期:2016-06-09 00:00:00
abstract::To identify potential mutations in the gamma-glutamyl carboxylase gene, the sequence of all exons and intron/exon borders was determined in 4 patients from a consanguineous kindred with combined deficiency of all vitamin K-dependent procoagulants and anticoagulants and results were compared with normal genomic sequenc...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1998-12-15 00:00:00
abstract::Cellular oncogenes have been localized at the breakpoints of characteristic chromosomal rearrangements occurring in certain hematologic malignancies. This has been reported to result in aberrant expression of the involved oncogenes. Over 90% of chronic myelogenous leukemia (CML) is characterized by a reciprocal transl...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1986-03-01 00:00:00
abstract::Lymphomas were studied in kindreds with autoimmune lymphoproliferative syndrome (ALPS; Canale-Smith syndrome), a disorder of lymphocyte homeostasis usually associated with germline Fas mutations. Fas (CD95/APO-1) is a cell surface receptor that initiates programmed cell death, or apoptosis, of activated lymphocytes. L...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v98.1.194
更新日期:2001-07-01 00:00:00
abstract::Coated vesicles bearing the transferrin-transferrin receptor complex were isolated from rabbit reticulocytes by freeze-thaw cell lysis, followed by differential centrifugation with pelleting of vesicles at 100,000 g. Electronmicroscopy demonstrated the vesicles to have the characteristic morphology of coated vesicles,...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1987-10-01 00:00:00
abstract::Follicular lymphoma (FL) is characterized by a relatively indolent clinical course, but the disease often transforms into a more aggressive large cell lymphoma with a rapidly progressive clinical course. In the present study, we analyzed 41 cases of FL known to have subsequently transformed to aggressive lymphoma and ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2002-08-2482
更新日期:2003-08-15 00:00:00