Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency.

abstract：:Atypical hemolytic uremic syndrome (aHUS) is a severe renal disease that is associated with defective complement regulation caused by multiple factors. We previously described the deficiency of factor H-related proteins CFHR1 and CFHR3 as predisposing factor for aHUS. Here we identify in an extended cohort of 147 aHUS...

journal_title：Blood

authors： Józsi M,Licht C,Strobel S,Zipfel SL,Richter H,Heinen S,Zipfel PF,Skerka C

更新日期：2008-02-01 00:00:00

abstract：:Von Willebrand factor (VWF) is a key hemostatic protein synthesized in both endothelial cells and megakaryocytes. Megakaryocyte-derived VWF is stored in α-granules of platelets and is enriched in hyperactive "ultra-large" VWF multimers. To elucidate the specific contribution of platelet VWF in hemostasis and thrombosi...

journal_title：Blood

authors： Verhenne S,Denorme F,Libbrecht S,Vandenbulcke A,Pareyn I,Deckmyn H,Lambrecht A,Nieswandt B,Kleinschnitz C,Vanhoorelbeke K,De Meyer SF

更新日期：2015-10-01 00:00:00

abstract：:Leukocytes are classified as myelocytic or lymphocytic, and each class of leukocytes consists of several types of cells that have different phenotypes and different roles. To define the gene expression in these cells, we have performed serial analysis of gene expression (SAGE) using human leukocytes and have provided ...

journal_title：Blood

authors： Hashimoto S,Nagai S,Sese J,Suzuki T,Obata A,Sato T,Toyoda N,Dong HY,Kurachi M,Nagahata T,Shizuno K,Morishita S,Matsushima K

更新日期：2003-05-01 00:00:00

abstract：:Mantle cell lymphoma (MCL) is one of the most aggressive lymphoid neoplasms whose pathogenesis is not fully understood. The neural transcription factor SOX11 is overexpressed in most MCL but is not detected in other mature B-cell lymphomas or normal lymphoid cells. The specific expression of SOX11 in MCL suggests that...

journal_title：Blood

authors： Vegliante MC,Palomero J,Pérez-Galán P,Roué G,Castellano G,Navarro A,Clot G,Moros A,Suárez-Cisneros H,Beà S,Hernández L,Enjuanes A,Jares P,Villamor N,Colomer D,Martín-Subero JI,Campo E,Amador V

更新日期：2013-03-21 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

authors： Lakhal S,Talbot NP,Crosby A,Stoepker C,Townsend AR,Robbins PA,Pugh CW,Ratcliffe PJ,Mole DR

更新日期：2009-02-12 00:00:00

abstract：:Light chain deposition disease (LCDD) results from a propensity of some human monoclonal L chains to form tissue deposits. We designed an experimental model for in vivo expression of human kappa L chain sequences in mice and compared a somatically mutated LCDD chain with a closely related control kappa chain, both enc...

journal_title：Blood

authors： Khamlichi AA,Rocca A,Touchard G,Aucouturier P,Preud'homme JL,Cogné M

更新日期：1995-11-15 00:00:00

abstract：:CD177 is a glycosylphosphatidylinositol (GPI)-anchored protein expressed by a variable proportion of human neutrophils that mediates surface expression of the antineutrophil cytoplasmic antibody antigen proteinase 3. CD177 associates with β2 integrins and recognizes platelet endothelial cell adhesion molecule 1 (PECAM...

journal_title：Blood

authors： Bai M,Grieshaber-Bouyer R,Wang J,Schmider AB,Wilson ZS,Zeng L,Halyabar O,Godin MD,Nguyen HN,Levescot A,Cunin P,Lefort CT,Soberman RJ,Nigrovic PA

更新日期：2017-11-09 00:00:00

abstract：:Exposure of endothelial cells to recombinant tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) induced a modest (2-fold) increase of HL-60 cell adhesion as compared to TNF-alpha (40-fold) or interleukin 1beta (IL-1beta; 20-fold). However, pretreatment of endothelial cultures with TRAIL determined a...

journal_title：Blood

authors： Secchiero P,Corallini F,di Iasio MG,Gonelli A,Barbarotto E,Zauli G

更新日期：2005-05-01 00:00:00

abstract：:The subcellular localization of the platelet membrane receptors glycoproteins (GP) Ib and IIb/IIIa [corrected] has been studied within resting platelets by a combination of biochemical and cytochemical techniques. While both GPIb and GPIIb/IIIa are localized within the plasma membrane and surface-connected canalicular...

journal_title：Blood

authors： Cramer EM,Lu H,Caen JP,Soria C,Berndt MC,Tenza D

更新日期：1991-02-15 00:00:00

abstract：:Infection by human immunodeficiency virus type 1 (HIV-1) results in a progressive depletion of CD4+ T lymphocytes, leading to fatal immunodeficiency. The mechanisms causing the marked loss of CD4+ T lymphocytes are incompletely understood. However, several lines of evidence indicate that direct cytopathology mediated ...

journal_title：Blood

authors： Cantin R,Fortin JF,Lamontagne G,Tremblay M

更新日期：1997-08-01 00:00:00

abstract：:Leukocyte transendothelial migration (TEM) is a critical event during inflammation. CD47 has been implicated in myeloid cell migration across endothelium and epithelium. CD47 binds to signal regulatory protein (SIRP), SIRPalpha and SIRPgamma. So far, little is known about the role of endothelial CD47 in T-cell TEM in ...

journal_title：Blood

authors： Stefanidakis M,Newton G,Lee WY,Parkos CA,Luscinskas FW

更新日期：2008-08-15 00:00:00

abstract：:An attractive hypothesis is that in utero exposure of hematopoietic cells to oncogenic agents can induce molecular changes leading to overt acute lymphoblastic leukemia (ALL) in infants and perhaps older children as well. Although supported by studies of identical infant twins with concordant leukemia, and of nontwine...

journal_title：Blood

authors： Yagi T,Hibi S,Tabata Y,Kuriyama K,Teramura T,Hashida T,Shimizu Y,Takimoto T,Todo S,Sawada T,Imashuku S

更新日期：2000-07-01 00:00:00

abstract：:Hepcidin is the master regulator of iron homeostasis. In the liver, iron-dependent hepcidin activation is regulated through Bmp6 and its membrane receptor hemojuvelin (Hjv), whereas, in response to iron deficiency, hepcidin repression seems to be controlled by a pathway involving the serine protease matriptase-2 (enco...

journal_title：Blood

authors： Lenoir A,Deschemin JC,Kautz L,Ramsay AJ,Roth MP,Lopez-Otin C,Vaulont S,Nicolas G

更新日期：2011-01-13 00:00:00

abstract：:CREB-binding protein (CBP) and the closely related adenovirus E1A-associated 300-kD protein (p300) function as coactivators of transcription factors such as CREB, c-Fos, c-Jun, c-Myb, and several nuclear receptors. To study the roles of CBP in embryonic development, we generated CBP homozygous mutant mouse embryos tha...

journal_title：Blood

authors： Oike Y,Takakura N,Hata A,Kaname T,Akizuki M,Yamaguchi Y,Yasue H,Araki K,Yamamura K,Suda T

更新日期：1999-05-01 00:00:00

abstract：:Spectrin Jendouba (alpha II/31) was found in a Tunisian family. In the heterozygous state, it is associated with asymptomatic elliptocytosis and a minimal defect in spectrin dimer self-association. On partial digestion of spectrin with trypsin, an abnormal cleavage appeared following Lys 788. Peptide and DNA sequencin...

journal_title：Blood

authors： Alloisio N,Wilmotte R,Morlé L,Baklouti F,Maréchal J,Ducluzeau MT,Denoroy L,Féo C,Forget BG,Kastally R

更新日期：1992-08-01 00:00:00

abstract：:Burkitt lymphoma (BL) is a highly aggressive B-cell neoplasm harboring chromosomal rearrangements of the c-myc oncogene. BL cells frequently resist apoptosis induction by chemotherapeutic agents; however, the mechanism of unresponsiveness has not been elucidated. Here, we show that cytochrome c fails to stimulate apop...

journal_title：Blood

authors： Sun Y,Orrenius S,Pervaiz S,Fadeel B

更新日期：2005-05-15 00:00:00

abstract：:NOTCH1 and SF3B1 mutations have been previously reported to have prognostic significance in chronic lymphocytic leukemia but to date they have not been validated in a prospective, controlled clinical trial. We have assessed the impact of these mutations in a cohort of 494 patients treated within the randomized phase 3...

journal_title：Blood

authors： Oscier DG,Rose-Zerilli MJ,Winkelmann N,Gonzalez de Castro D,Gomez B,Forster J,Parker H,Parker A,Gardiner A,Collins A,Else M,Cross NC,Catovsky D,Strefford JC

更新日期：2013-01-17 00:00:00

abstract：:Hematopoietic stem cell (HSC) homeostasis is controlled by cytokine receptor-mediated Janus kinase 2 (JAK2) signaling. We previously found that JAK2 is promptly ubiquitinated upon cytokine stimulation. Whether a competing JAK2 deubiquitination activity exists is unknown. LNK is an essential adaptor protein that constr...

journal_title：Blood

authors： Donaghy R,Han X,Rozenova K,Lv K,Jiang Q,Doepner M,Greenberg RA,Tong W

更新日期：2019-04-04 00:00:00

abstract：:von Willebrand disease (VWD) is the most common inherited bleeding disorder, and type 1 VWD is the most common VWD variant. Despite its frequency, diagnosis of type 1 VWD remains the subject of debate. In order to study the spectrum of type 1 VWD in the United States, the Zimmerman Program enrolled 482 subjects with a...

journal_title：Blood

authors： Flood VH,Christopherson PA,Gill JC,Friedman KD,Haberichter SL,Bellissimo DB,Udani RA,Dasgupta M,Hoffmann RG,Ragni MV,Shapiro AD,Lusher JM,Lentz SR,Abshire TC,Leissinger C,Hoots WK,Manco-Johnson MJ,Gruppo RA,Boggio LN

更新日期：2016-05-19 00:00:00

abstract：:The t(1;19)(q23;p13) chromosomal translocation is observed cytogenetically in 25% of children with pre-B-cell acute lymphoblastic leukemia (ALL) and is associated with an adverse treatment outcome. The t(1;19) juxtaposes the E2A gene from chromosome 19 with the PBX1 gene on chromosome 1, leading to the production of f...

journal_title：Blood

authors： Hunger SP,Galili N,Carroll AJ,Crist WM,Link MP,Cleary ML

更新日期：1991-02-15 00:00:00

abstract：:E-cadherin gene is often termed a "metastasis suppressor" gene because the E-cadherin protein can suppress tumor cell invasion and metastasis. Inactivation of the E-cadherin gene occurs in undifferentiated solid tumors by both genetic and epigenetic mechanisms; however, the role of E-cadherin in hematologic malignanci...

journal_title：Blood

authors： Melki JR,Vincent PC,Brown RD,Clark SJ

更新日期：2000-05-15 00:00:00

abstract：:Mice carrying a conditional prothrombin knockout allele (fII(lox)) were established to develop an experimental setting for exploring the importance of thrombin in the maintenance of vascular integrity, the inflammatory response, and disease processes in adult animals. In the absence of Cre-mediated recombination, homo...

journal_title：Blood

authors： Mullins ES,Kombrinck KW,Talmage KE,Shaw MA,Witte DP,Ullman JM,Degen SJ,Sun W,Flick MJ,Degen JL

更新日期：2009-01-15 00:00:00

abstract：:Nucleophosmin-mutated acute myeloid leukemia (NPM1mut-AML) patients have a high rate of complete remission (CR) to induction chemotherapy. However, the mechanisms responsible for such effects are unknown. Because miR-10 family members are expressed at high levels in NPM1mut-AML, we evaluated whether these microRNAs co...

journal_title：Blood

authors： Havelange V,Ranganathan P,Geyer S,Nicolet D,Huang X,Yu X,Volinia S,Kornblau SM,Andreeff M,Croce CM,Marcucci G,Bloomfield CD,Garzon R

更新日期：2014-04-10 00:00:00

abstract：:Glycogen storage disease type 1b (GSD1b) is a rare autosomal recessive disorder characterized by hypoglycemia, hepatomegaly, and growth retardation, and associated-for unknown reasons- with neutropenia and neutrophil dysfunction. In 5 GSD1b patients in whom nicotin-amide adenine dinucleotide phosphate-oxidase activity...

journal_title：Blood

authors： Kuijpers TW,Maianski NA,Tool AT,Smit GP,Rake JP,Roos D,Visser G

更新日期：2003-06-15 00:00:00

abstract：:Natural killer (NK) cell activation is the result of a balance between positive and negative signals triggered by specific membrane receptors. We report here the activation of NK cells induced through the transmembrane glycoprotein CD43 (leukosialin, sialophorin). Engagement of CD43 by specific antibodies stimulated t...

journal_title：Blood

authors： Nieto M,Rodríguez-Fernández JL,Navarro F,Sancho D,Frade JM,Mellado M,Martínez-A C,Cabañas C,Sánchez-Madrid F

更新日期：1999-10-15 00:00:00

abstract：:Eosinophils are recruited to the lungs in response to respiratory syncytial virus (RSV) infection; however, their role in promoting antiviral host defense remains unclear. Here, we demonstrate that eosinophils express TLRs that recognize viral nucleic acids, are activated and degranulate after single-stranded RNA (ssR...

journal_title：Blood

authors： Phipps S,Lam CE,Mahalingam S,Newhouse M,Ramirez R,Rosenberg HF,Foster PS,Matthaei KI

更新日期：2007-09-01 00:00:00

abstract：:Sphingosine 1-phosphate (S1P), a bioactive lipid, is produced and stored in platelets and is released from activated platelets during blood coagulation activation. Thrombin, which is also generated during blood coagulation, has been shown to induce tissue factor (TF), the initiator of blood coagulation, in endothelial...

journal_title：Blood

authors： Takeya H,Gabazza EC,Aoki S,Ueno H,Suzuki K

更新日期：2003-09-01 00:00:00

abstract：:Fanconi anemia (FA) is a hereditary disorder caused by mutations in any 1 of 22 FA genes. The disease is characterized by hypersensitivity to interstrand crosslink (ICL) inducers such as mitomycin C (MMC). In addition to promoting ICL repair, FA proteins such as RAD51, BRCA2, or FANCD2 protect stalled replication fork...

journal_title：Blood

authors： Okamoto Y,Abe M,Mu A,Tempaku Y,Rogers CB,Mochizuki AL,Katsuki Y,Kanemaki MT,Takaori-Kondo A,Sobeck AT,Bielinsky AK,Takata M

更新日期：2020-07-31 00:00:00

abstract：:Plasmodium falciparum-infected erythrocytes (parasitized red blood cells [PRBCs]) can adhere to uninfected erythrocytes (RBCs) to form rosettes, and adhere to the endothelial cell (EC) surface antigen CD36. These adherence phenomena have previously been considered quite different. We show that anti-CD36 monoclonal ant...

journal_title：Blood

authors： Handunnetti SM,van Schravendijk MR,Hasler T,Barnwell JW,Greenwalt DE,Howard RJ

更新日期：1992-10-15 00:00:00

abstract：:Phospholipase C (PLC)-mediated hydrolysis of membrane phospholipids results in the production of diacylglycerol, inositol phosphates, and choline metabolites. Inositol triphosphate increases calcium levels, while diacylglycerol activates protein kinase C. The present studies demonstrate that exogenous PLC generates in...

journal_title：Blood

authors： Stone RM,Weber BL,Spriggs DR,Kufe DW

更新日期：1988-08-01 00:00:00