Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.

abstract：:In order to gain insights in the true molecular mechanisms involved in cell fate decisions, it is important to study the molecular details of gene activation where such decisions occur, which is at the level of the chromatin structure of individual genes. In the study presented here we addressed this issue and examine...

journal_title：Blood

authors： Tagoh H,Melnik S,Lefevre P,Chong S,Riggs AD,Bonifer C

更新日期：2004-04-15 00:00:00

abstract：:Inherited type 1 antithrombin (AT) deficiency is characterized by a reduction in both immunologically and functionally detectable protein. The disorder is associated with a high risk of thromboembolic disease. We have investigated the molecular basis of type 1 AT deficiency in three unrelated families. We have used th...

journal_title：Blood

authors： Jochmans K,Lissens W,Yin T,Michiels JJ,van der Luit L,Peerlinck K,De Waele M,Liebaers I

更新日期：1994-12-01 00:00:00

abstract：:During pregnancy the plasma concentration of two different inhibitors of plasminogen activators (PAIs) increases. The only one found in the plasma of nonpregnant women (PAI1) is immunologically related to a PAI of endothelial cells; its plasma activity, as deduced from the inhibition of single-chain tissue-type plasmi...

journal_title：Blood

authors： Kruithof EK,Tran-Thang C,Gudinchet A,Hauert J,Nicoloso G,Genton C,Welti H,Bachmann F

更新日期：1987-02-01 00:00:00

abstract：:A mutant strain of Escherichia coli (E. coli ML-35) was used to follow the kinetics of phagocytosis, perforation of the bacterial cell envelope, and inactivation of bacterial proteins by human neutrophils. This particular E. coli mutant strain has no lactose permease, but constitutively forms the cytoplasmic enzyme be...

journal_title：Blood

authors： Hamers MN,Bot AA,Weening RS,Sips HJ,Roos D

更新日期：1984-09-01 00:00:00

abstract：:We assessed frequency and predictive factors for major cardiovascular (CV) events in 707 patients with primary myelofibrosis (PMF) followed in 4 European institutions. A total of 236 deaths (33%) were recorded for an overall mortality of 7.7% patient-years (pt-yr). Fatal and nonfatal thromboses were registered in 51 (...

journal_title：Blood

authors： Barbui T,Carobbio A,Cervantes F,Vannucchi AM,Guglielmelli P,Antonioli E,Alvarez-Larrán A,Rambaldi A,Finazzi G,Barosi G

更新日期：2010-01-28 00:00:00

abstract：:The D816V mutation of c-kit has been detected in patients with mastocytosis. This mutation leads to constitutive tyrosine kinase activation of Kit. Because stem cell factor (SCF), the ligand for Kit (CD117(+)), is a chemoattractant for CD117(+) cells and one feature of mastocytosis is an abnormal collection of mast ce...

journal_title：Blood

authors： Taylor ML,Dastych J,Sehgal D,Sundstrom M,Nilsson G,Akin C,Mage RG,Metcalfe DD

更新日期：2001-08-15 00:00:00

abstract：:The mechanism of platelet release has been studied in mouse bone marrow, using scanning and transmission electron microscopy. Cytoplasmic processes extended into sinusoids by megakaryocytes were found to undergo attenuation, and at the distal end develop constrictions between segments of platelet size. Rupture at site...

journal_title：Blood

authors： Radley JM,Scurfield G

更新日期：1980-12-01 00:00:00

abstract：:Recently, we described a new genetic disorder (the "hereditary hyperferritinemia-cataract syndrome") clinically characterized by the combination of elevated serum ferritin and congenital bilateral nuclear cataract, both cotransmitted as an autosomal dominant trait. In affected subjects, hyperferritinemia (ranging from...

journal_title：Blood

authors： Girelli D,Corrocher R,Bisceglia L,Olivieri O,De Franceschi L,Zelante L,Gasparini P

更新日期：1995-12-01 00:00:00

abstract：:Gene therapy for hemophilia A requires efficient delivery of the factor VIII gene and sustained protein expression at circulating levels of at least 1% to 2% of normal. Adeno-associated viral type 2 (AAV2) vectors have a number of advantages over other viral vectors, including an excellent safety profile and persisten...

journal_title：Blood

authors： Scallan CD,Lillicrap D,Jiang H,Qian X,Patarroyo-White SL,Parker AE,Liu T,Vargas J,Nagy D,Powell SK,Wright JF,Turner PV,Tinlin SJ,Webster SE,McClelland A,Couto LB

更新日期：2003-09-15 00:00:00

abstract：:Because interleukin-10 (IL-10) is a potent differentiation factor of human B cells into mature plasma cells, we investigated its effect on human malignant plasma cells. IL-10 did not induce any differentiation and increase in Ig synthesis in four human IL-6-dependent malignant plasma cell lines. However, it stimulated...

journal_title：Blood

authors： Lu ZY,Zhang XG,Rodriguez C,Wijdenes J,Gu ZJ,Morel-Fournier B,Harousseau JL,Bataille R,Rossi JF,Klein B

更新日期：1995-05-01 00:00:00

abstract：:A common genetic risk factor for venous thrombosis among Caucasoid subpopulations is a polymorphism, nt G1691A, in blood coagulation factor V that replaces Arg506 with Gln and imparts resistance of factor Va to the anticoagulant, activated protein C. Haplotype analyses using six dimorphic sites in the factor V gene fo...

journal_title：Blood

authors： Zivelin A,Griffin JH,Xu X,Pabinger I,Samama M,Conard J,Brenner B,Eldor A,Seligsohn U

更新日期：1997-01-15 00:00:00

abstract：:The therapeutic potential of hematopoietic stem cell (HSC) gene therapy can be fully exploited only by reaching efficient gene transfer into HSCs without compromising their biologic properties. Although HSCs can be transduced by HIV-derived lentiviral vectors (LVs) in short ex vivo culture, they display low permissivi...

journal_title：Blood

authors： Santoni de Sio FR,Cascio P,Zingale A,Gasparini M,Naldini L

更新日期：2006-06-01 00:00:00

abstract：:Mutations in the kinase domain (KD) of BCR-ABL are the most prevalent mechanism of acquired imatinib resistance in patients with chronic myeloid leukemia (CML). Here we examine predisposing factors underlying acquisition of KD mutations, evidence for acquisition of mutations before and during therapy, and whether the ...

journal_title：Blood

authors： O'Hare T,Eide CA,Deininger MW

更新日期：2007-10-01 00:00:00

abstract：:Cumulative evidence indicates that MYC, one of the major downstream effectors of NOTCH1, is a critical component of T-cell acute lymphoblastic leukemia (T-ALL) oncogenesis and a potential candidate for targeted therapy. However, MYC is a complex oncogene, involving both fine protein dosage and cell-context dependency,...

journal_title：Blood

authors： Bonnet M,Loosveld M,Montpellier B,Navarro JM,Quilichini B,Picard C,Di Cristofaro J,Bagnis C,Fossat C,Hernandez L,Mamessier E,Roulland S,Morgado E,Formisano-Tréziny C,Dik WA,Langerak AW,Prebet T,Vey N,Michel G,Gabert

更新日期：2011-06-16 00:00:00

abstract：:The risk for thrombosis is increased in patients with hereditary hydrocytosis, an uncommon variant of hereditary stomatocytosis. Erythrocytes from 2 patients with hydrocytosis were studied to gain insight into the mechanism of thrombosis in this disorder. Erythrocytes demonstrated abnormal osmotic scan ektacytometry a...

journal_title：Blood

authors： Gallagher PG,Chang SH,Rettig MP,Neely JE,Hillery CA,Smith BD,Low PS

更新日期：2003-06-01 00:00:00

abstract：:T cells are known to interact cooperatively with monocytes to produce Colony-Stimulating Factors (CSF), although T cell-mediated signals leading to CSF secretion by monocytes are not completely understood. We have made use of Northern blot hybridization and specific bioassays to study the effects of the T cell product...

journal_title：Blood

authors： Wieser M,Bonifer R,Oster W,Lindemann A,Mertelsmann R,Herrmann F

更新日期：1989-04-01 00:00:00

abstract：:LMP-1, an Epstein-Barr viral (EBV) latency protein, is considered a viral oncogene because of its ability to transform rodent fibroblasts in vivo and render them tumorigenic in nude mice. In human B cells, EBV LMP-1 induces DNA synthesis and abrogates apoptosis. LMP-1 is expressed in EBV-transformed lymphoblastoid cel...

journal_title：Blood

authors： Kingma DW,Weiss WB,Jaffe ES,Kumar S,Frekko K,Raffeld M

更新日期：1996-07-01 00:00:00

abstract：:Silent cerebral infarct (SCI) is the most common form of neurologic disease in children with sickle cell anemia (SCA). SCI is defined as abnormal magnetic resonance imaging (MRI) of the brain in the setting of a normal neurologic examination without a history or physical findings associated with an overt stroke. SCI o...

journal_title：Blood

authors： DeBaun MR,Armstrong FD,McKinstry RC,Ware RE,Vichinsky E,Kirkham FJ

更新日期：2012-05-17 00:00:00

abstract：:Fluid shear stress in arteries and arterioles partially obstructed by atherosclerosis or spasm may exceed the normal time-average level of 20 dyne/cm2. In vitro, at fluid shear stresses of 30 to 60 dyne/cm2 applied for 30 seconds, platelet aggregation occurs. At these shear stresses, either large or unusually large vo...

journal_title：Blood

authors： Moake JL,Turner NA,Stathopoulos NA,Nolasco L,Hellums JD

更新日期：1988-05-01 00:00:00

abstract：:Intestinal mucosal mast cells (IMMC) express granule neutral proteases that are regulated by T-cell-derived cytokines, including interleukin-3 (IL-3) and IL-9, and by stem cell factor (SCF). The IMMC-specific chymase, mouse mast cell protease-1 (mMCP-1), is released in substantial quantities into the blood stream duri...

journal_title：Blood

authors： Miller HR,Wright SH,Knight PA,Thornton EM

更新日期：1999-05-15 00:00:00

abstract：:Erdheim-Chester disease (ECD) pathophysiology remains largely unknown. Its treatment is not codified and usually disappointing. Interferon (IFN)-α therapy lacks efficacy for some life-threatening manifestations and has a poor tolerance profile. Because interleukin (IL)-1Ra synthesis is naturally induced after stimulat...

journal_title：Blood

authors： Aouba A,Georgin-Lavialle S,Pagnoux C,Martin Silva N,Renand A,Galateau-Salle F,Le Toquin S,Bensadoun H,Larousserie F,Silvera S,Provost N,Candon S,Seror R,de Menthon M,Hermine O,Guillevin L,Bienvenu B

更新日期：2010-11-18 00:00:00

abstract：:Stem cell localization, conservation, and differentiation is believed to occur in niches in the marrow stromal microenvironment. Our recent observation that long-term in vitro human hematopoiesis requires a stromal heparan sulfate proteoglycan (HSPG) led us to hypothesize that such HSPG may orchestrate the formation o...

journal_title：Blood

authors： Gupta P,Oegema TR Jr,Brazil JJ,Dudek AZ,Slungaard A,Verfaillie CM

更新日期：1998-12-15 00:00:00

abstract：:Whole saliva samples collected from available people at risk in Boston for infection with human T-lymphotropic virus type III (HTLV-III/LAV), from late 1984 through early 1985, were analyzed for the presence of antibodies to viral proteins. Fourteen of 20 (70%) acquired immunodeficiency syndrome (AIDS) patients and 14...

journal_title：Blood

authors： Archibald DW,Zon L,Groopman JE,McLane MF,Essex M

更新日期：1986-03-01 00:00:00

abstract：:3-Hydroxypropyl flufenamide (Flu-HPA) is one of a series of flufenamic acid derivatives that enhances blood clot lysis in vitro. Studies of possible mechanisms of action of Flu-HPA were undertaken. The profibrinolytic activity of Flu-HPA in clot lysis assays was found to be dependent on plasminogen. The influence of F...

journal_title：Blood

authors： Miles LA,Burnier JP,Verlander MS,Goodman M,Kleiss AJ,Griffin JH

更新日期：1981-06-01 00:00:00

abstract：:Spectrin and protein 4.1R crosslink F-actin, forming the membrane skeleton. Actin and 4.1R bind to one end of β-spectrin. The adjacent end of α-spectrin, called the EF domain, is calmodulin-like, with calcium-dependent and calcium-independent EF hands. The severely anemic sph(1J)/sph(1J) mouse has very fragile red cel...

journal_title：Blood

authors： Korsgren C,Lux SE

更新日期：2010-10-07 00:00:00

abstract：:The Strecker degradation reaction was evaluated as a means of modifying hemoglobin in vitro, utilizing ninhydrin as a model compound. Ninhydrin led to modification of hemoglobin (when incubated with hemoglobin or red cells) at physiologic temperature and pH. Isoelectric focusing documented the formation of new hemoglo...

journal_title：Blood

authors： Kokkini G,Stevens VJ,Peterson CM,Cerami A

更新日期：1980-10-01 00:00:00

abstract：:Prediagnostic serum concentration of soluble CD30 (sCD30), a marker for chronic B-cell stimulation, has been associated with increased risk of developing AIDS-related non-Hodgkin lymphoma (NHL) in a recent study of HIV(+) patients. To investigate among healthy persons whether serum sCD30 is associated with NHL risk, w...

journal_title：Blood

authors： Purdue MP,Lan Q,Martinez-Maza O,Oken MM,Hocking W,Huang WY,Baris D,Conde B,Rothman N

更新日期：2009-09-24 00:00:00

abstract：:The molecular mechanisms that underlie T-cell quiescence are poorly understood. In the present study, we report a primary immunodeficiency phenotype associated with MST1 deficiency and primarily characterized by a progressive loss of naive T cells. The in vivo consequences include recurrent bacterial and viral infecti...

journal_title：Blood

authors： Nehme NT,Schmid JP,Debeurme F,André-Schmutz I,Lim A,Nitschke P,Rieux-Laucat F,Lutz P,Picard C,Mahlaoui N,Fischer A,de Saint Basile G

更新日期：2012-04-12 00:00:00

abstract：:Approximately 50% of multi-transfused individuals become refractory to random donor platelets. Recent clinical data suggest that those patients receiving leukocyte-depleted blood products are less likely to become refractory to random donor platelets than recipients of non-leukocyte-depleted products. Leukocyte deplet...

journal_title：Blood

authors： Blajchman MA,Bardossy L,Carmen RA,Goldman M,Heddle NM,Singal DP

更新日期：1992-03-01 00:00:00

abstract：:Sickle cell disease (SCD) is characterized by a single point mutation in the seventh codon of the β-globin gene. Site-specific correction of the sickle mutation in hematopoietic stem cells would allow for permanent production of normal red blood cells. Using zinc-finger nucleases (ZFNs) designed to flank the sickle mu...

journal_title：Blood

authors： Hoban MD,Cost GJ,Mendel MC,Romero Z,Kaufman ML,Joglekar AV,Ho M,Lumaquin D,Gray D,Lill GR,Cooper AR,Urbinati F,Senadheera S,Zhu A,Liu PQ,Paschon DE,Zhang L,Rebar EJ,Wilber A,Wang X,Gregory PD,Holmes MC,Reik A

更新日期：2015-04-23 00:00:00