Abstract:
:Families with 3 different syndromes characterized by autosomal dominant inheritance of low platelet count and giant platelets were studied. Fechtner syndrome is an autosomal-dominant variant of Alport syndrome manifested by nephritis, sensorineural hearing loss, and cataract formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian platelet syndrome is an autosomal-dominant macrothrombocytopenia combined with neutrophil inclusions that differ from those found in May-Hegglin syndrome or Chediak-Higashi syndrome or the Dohle bodies described in patients with sepsis. These inclusions are, however, similar to those described in Fechtner syndrome. Other features of Alport syndrome, though, including deafness, cataracts, and nephritis, are absent in Sebastian platelet syndrome. Epstein syndrome is characterized by macrothrombocytopenia without neutrophil inclusions, in addition to the classical Alport manifestations-deafness, cataracts, and nephritis-and it is also inherited in an autosomal-dominant mode. We mapped the disease-causing gene to the long arm of chromosome 22 in an Italian family with Fechtner syndrome, 2 German families with the Sebastian platelet syndrome, and an American family with the Epstein syndrome. Four markers on chromosome 22q yielded an LOD score greater than 2.76. A maximal 2-point LOD score of 3.41 was obtained with the marker D22S683 at a recombination fraction of 0.00. Recombination analysis placed the disease-causing gene in a 3.37-Mb interval between the markers D22S284 and D22S693. The disease-causing gene interval in these 3 syndromes is similar to the interval described recently in an Israeli family with a slightly different Fechtner syndrome than the one described here. Recombination analysis of these 3 syndromes refines the interval containing the disease-causing gene from 5.5 Mb to 3.37 Mb. The clinical likeness and the similar interval containing the disease-causing gene suggest that the 3 different syndromes may arise from a similar genetic defect.
journal_name
Bloodjournal_title
Bloodauthors
Toren A,Rozenfeld-Granot G,Rocca B,Epstein CJ,Amariglio N,Laghi F,Landolfi R,Brok-Simoni F,Carlsson LE,Rechavi G,Greinacher Asubject
Has Abstractpub_date
2000-11-15 00:00:00pages
3447-51issue
10eissn
0006-4971issn
1528-0020journal_volume
96pub_type
杂志文章相关文献
BLOOD文献大全abstract::LIRs are immunoglobulinlike receptors that have activating and inhibitory functions in leukocytes. Here we report the identification of the first LIR family member, LIR9, expressed as a membrane-bound receptor and as a secreted molecule. We identified 4 different forms of LIR9, 2 of which encode transmembrane molecule...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2002-05-1432
更新日期:2003-02-15 00:00:00
abstract::Plasminogen activator inhibitor 1 (PAI-1) is the fast-acting inhibitor of both tissue-type and urokinase-type plasminogen activators (t-PA, u-PA) and is an essential regulatory protein of the fibrinolytic system. In the presence of either the protein vitronectin or the glycosaminoglycan heparin, PAI-1 is also an effic...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1991-09-01 00:00:00
abstract::We have investigated the hormonal responsiveness of K562 cells using a serum-substituted in vitro clonogenic assay. Dexamethasone inhibited colony formation by the K562 cells, and the inhibitory effect could be reversed by progesterone (10(-6) M). Fluoxymesterone caused a prominent enhancement of K562 colony growth, w...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1980-11-01 00:00:00
abstract:UNLABELLED:Polymorphonuclear neutrophil granulocytes (neutrophils) are tightly controlled by an incompletely understood homeostatic feedback loop adjusting the marrow's supply to peripheral needs. Although it has long been known that marrow cellularity is inversely correlated with G-CSF levels, the mechanism linking pe...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2012-05-429589
更新日期:2013-01-31 00:00:00
abstract::Macrophage colony-stimulating factor (M-CSF or CSF-1) and granulocyte-macrophage CSF (GM-CSF) have been shown to increase human monocyte urokinase-type plasminogen-activator (u-PA) activity with possible consequences for cell migration and tissue remodeling; because monocyte u-PA activity is likely to be controlled in...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1993-12-15 00:00:00
abstract::We previously showed that granulocyte-macrophage colony-stimulating factor (GM-CSF) and macrophage colony-stimulating factor (M-CSF) stimulate the differentiation of human monocytes into two phenotypically distinct types of macrophages. However, in vivo, not only CSF but also many other cytokines are produced under va...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1996-11-15 00:00:00
abstract::Juvenile myelomonocytic leukemia (JMML) is a rare pediatric myeloid neoplasm characterized by excessive proliferation of myelomonocytic cells. Somatic mutations in genes involved in GM-CSF signal transduction, such as NRAS, KRAS, PTPN11, NF1, and CBL, have been identified in more than 70% of children with JMML. In the...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2012-02-406090
更新日期:2012-08-16 00:00:00
abstract::Immunosuppression with antithymocyte globulin, (methyl)prednisolone, and cyclosporin A is considered the treatment of choice for the patient with aplastic anemia without a donor for standard-risk stem cell transplantation. This consensus is supported by the results of several series, including a randomized German tria...
journal_title:Blood
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1182/blood-2002-04-1134
更新日期:2003-02-15 00:00:00
abstract::Biochemical and morphological evidence is presented to support the characterization of a rat bone-marrow-derived cell line (RPM) as an analog of the promegakaryoblast. The conditions for in vitro growth and maturation of the RPM line are described. Rapid proliferation of the RPM line is readily achieved when cultures ...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1981-07-01 00:00:00
abstract::Fibrinogen was isolated from the plasma of a 25-year-old female with a history of mild bleeding and several recent moderate to severe hemorrhagic episodes. Coagulability with thrombin approached 100% and varied directly with the time of incubation with the enzyme. High-performance liquid chromatography analysis of thr...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1988-03-01 00:00:00
abstract::We have previously shown that intravenously injected peripheral blood (PB) or bone marrow (BM) cells from newly diagnosed chronic myeloid leukemia (CML) patients can engraft the BM of sublethally irradiated severe combined immunodeficient (SCID) mice. We now report engraftment results for chronic phase CML cells in no...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1998-04-01 00:00:00
abstract::The expansion of follicular lymphomas (FLs) resembles, both morphologically and functionally, normal germinal center B-cell growth. The tumor cells proliferate in networks of follicular dendritic cells and are believed to be capable of somatic hypermutation and isotype switching. To investigate the relation between so...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:2000-05-01 00:00:00
abstract::Cellulose ester membranes (CEM) were coated with stromal cells from bone marrow (BM) or bone and implanted intraperitoneally (IP) in CAF1 mice for intervals of 1 to 6 months. Previous studies indicated that matrix factors [glycoproteins (GPs), proteoglycans (PGs), and glycosaminoglycans (GAGs)] were secreted by the re...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1989-07-01 00:00:00
abstract::In this issue of Blood, Tebas et al report antiviral effects in a clinical trial of multiple infusions of lentiviral vector–modified autologous CD4T lymphocytes in 17 HIV-infected patients aviremic on antiretroviral therapy (ART). ...
journal_title:Blood
pub_type: 评论,杂志文章
doi:10.1182/blood-2013-01-475921
更新日期:2013-02-28 00:00:00
abstract::One of the mechanisms by which normal hematopoietic progenitor cells remain localized within the bone marrow microenvironment is likely to involve adhesion of these cells to extracellular matrix (ECM) proteins. For example, there is evidence that uncommitted, HLA-DR-negative progenitor cells and committed erythroid pr...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1992-02-01 00:00:00
abstract::Fourteen patients with cytogenetic relapse of chronic myeloid leukemia (CML) after transplantation with unmanipulated bone marrow were treated with alpha-2a-interferon. There were eight men and six women, median age, 33 years. Twelve patients received marrow from a related allogeneic donor and two received marrow from...
journal_title:Blood
pub_type: 临床试验,杂志文章
doi:
更新日期:1997-10-01 00:00:00
abstract::It has previously been shown that human granulocyte-macrophage colony-stimulating factor (GM-CSF) can be fused to a truncated diphtheria toxin (DT) to produce a recombinant fusion toxin that kills GM-CSF receptor-bearing cells. We now report that DT388-GM-CSF induces apoptosis and inhibition of colony formation in sem...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1997-11-01 00:00:00
abstract::Serum cytokines and chemokines may reflect tumor biology and host response in follicular lymphoma (FL). To determine whether the addition of these biological factors may further refine prognostication, 30 cytokines and chemokines were measured in pretreatment serum specimens from newly diagnosed FL patients (n = 209) ...
journal_title:Blood
pub_type: 杂志文章,meta分析
doi:10.1182/blood-2014-06-583369
更新日期:2015-02-05 00:00:00
abstract::Langerhans cell histiocytosis (LCH) is a rare histiocytic neoplasm associated with somatic mutations in the genes involved in the RAF/MEK/extracellular signal-regulated kinase (ERK) signaling pathway. Recently, oncogenic mutations in NRAS/KRAS, upstream regulators of the RAF/MEK/ERK pathway, have been reported in pulm...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2017-02-770149
更新日期:2017-07-27 00:00:00
abstract::Interaction of platelets with collagen under conditions of blood flow is a multi-step process with tethering via glycoprotein IbIXV (GPIbIXV) over von Willebrand factor, adhesion by direct interaction with the integrin GPIaIIa, and signaling via GPVI. GPVI can be specifically agonized by cross-linked collagen-related ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2002-08-2591
更新日期:2003-06-01 00:00:00
abstract::Factor V Leiden (FVL) is associated with venous thrombosis; however, an association between FVL and arterial thrombosis remains controversial. We investigated FVL as a risk factor for myocardial infarction (MI), ischemic stroke (IS), or non-MI ischemic heart disease (non-MI-IHD). The design was 3 case-control studies ...
journal_title:Blood
pub_type: 杂志文章,meta分析
doi:10.1182/blood-2002-01-0111
更新日期:2002-07-01 00:00:00
abstract::The presence of lysosomal enzymes in human platelets is well documented; the identity of the "lysosome," however, has been the subject of some disagreement. In order to determine the time of appearance and subcellular localization of two lysosomal enzymes in megakaryocytes (MK) and platelets, we examined normal human ...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1982-03-01 00:00:00
abstract::Myelotoxic injury in the bone marrow (BM) as a consequence of total body irradiation (TBI) or granulocyte colony-stimulating factor (G-CSF) mobilization results in the deposition of iC3b on BM stroma (stroma-iC3b). In the present study, we have examined how stroma-iC3b interacts with hematopoietic progenitor cells (HP...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2005-07-2705
更新日期:2006-01-15 00:00:00
abstract::Subsets of natural killer (NK) cells are characterized by the expression of inhibitory and/or stimulatory receptors specific for major histocompatibility complex (MHC) class I determinants. In mice, these include the Ly49 family of molecules. One mechanism by which tumor cells may evade NK cell killing is by expressin...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v97.10.3132
更新日期:2001-05-15 00:00:00
abstract::Affinity purified anticardiolipin antibodies (ACLA) raised in rabbits showed cross-reactivities with various negatively charged phospholipids as shown by both the solid phase enzyme-linked immunosorbent assay (ELISA) and inhibition studies. In ELISA, ACLA showed strong cross-reactivity to both sphingomyelin (SM) and p...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1992-12-15 00:00:00
abstract::Activation of intracellular signaling pathways is important for cellular transformation and tumorigenesis. The nonreceptor tyrosine kinases Jak1 and Jak3, which bind to the v-Abl oncoprotein, are constitutively activated in cells transformed with the Abelson murine leukemia virus. A mutant of p160 v-Abl lacking the Ja...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v100.3.966
更新日期:2002-08-01 00:00:00
abstract::Erythropoietin (Epo) binding to the Epo receptor (EpoR) elicits downstream signaling that is essential for red blood cell production. One important negative regulatory mechanism to terminate Epo signaling is Epo-induced EpoR endocytosis and degradation. Defects in this mechanism play a key role in the overproduction o...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2013-05-506212
更新日期:2013-12-05 00:00:00
abstract::Redox biology is fundamental to both normal cellular homeostasis and pathological states associated with excessive oxidative stress. Reactive oxygen species function not only as signaling molecules but also as redox regulators of protein function. In the vascular system, redox reactions help regulate key physiologic r...
journal_title:Blood
pub_type: 杂志文章,评审
doi:10.1182/blood-2015-01-544676
更新日期:2015-06-18 00:00:00
abstract::The microbiota is known to influence the generation of hematopoietic progenitors, although the pathways underlying this process are still poorly understood. NOD1 and NOD2 are intracellular sensors for both Gram-positive and Gram-negative bacteria, but their role in steady-state hematopoiesis has never been characteriz...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2016-06-723742
更新日期:2017-01-12 00:00:00
abstract::GVHD and tumor relapse are fundamental problems in allogeneic HSCT. Recent research has linked neovascularization to GVHD, tumor growth, and graft-versus-tumor (GVT) activity. Damage of the endothelium by the conditioning regimen provides the initiation stimulus for recruitment of donor-derived endothelial cells and t...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2010-10-312934
更新日期:2011-04-21 00:00:00