当前位置： SCI文献检索 > BRITISH JOURNAL OF HAEMATOLOGY期刊下所有文献 > Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome.

Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome.

Abstract：

:Recent studies have suggested the HoxA10, HoxA11 and HoxD11 homeobox genes as candidate loci for the thrombocytopenia with absent radius (TAR) syndrome. For example, targeted disruptions of these Hox genes result in abnormal development of the mouse radius, while overexpression of HoxA10 stimulates mouse megakaryocyte (MK) development in vitro. To examine the expression of Hox genes in human MK cells, we utilized reverse transcription polymerase chain reaction with degenerate oligonucleotides to study megakaryocytic cell lines (MEG-01, DAMI), and primary human MK purified from adult and cord blood. Using this approach, 13 out of 40 clones isolated from cell lines, 10 out of 21 from cord MK, and 11 out of 21 from adult MK were identified as HoxA10, while HoxA11 and HoxD11 sequences were not detected. The normal genomic sequences for the human HoxA10, -A11, and -D11 genes were then determined and sequenced in 10 unrelated individuals with TAR syndrome. In all patients the derived amino acid sequence for the three Hox genes was identical to normal controls. Southern blotting did not reveal genomic rearrangements or deletions at these loci, and in two patients intact HoxA10 transcripts were detected by amplification in myeloid cells. Although these studies cannot completely exclude the possibility that the TAR syndrome results from non-coding mutations that affect the level of Hox gene expression in megakaryocytes, mutations in the coding sequence of the Hox genes known to affect radial development are not a common cause of TAR syndrome.

journal_name

Br J Haematol

journal_title

British journal of haematology

authors

Fleischman RA,Letestu R,Mi X,Stevens D,Winters J,Debili N,Vainchenker W

doi

10.1046/j.1365-2141.2002.03263.x

subject

Has Abstract

pub_date

2002-02-01 00:00:00

pages

367-75

issue

2

eissn

0007-1048

issn

1365-2141

pii

3263

journal_volume

116

pub_type

杂志文章

相关文献

BRITISH JOURNAL OF HAEMATOLOGY文献大全
  • Clinical effectiveness of leucoreduced, pooled donor platelet concentrates, stored in plasma or additive solution with and without pathogen reduction.

    abstract：:Pathogen reduction (PR) of platelet products increases costs and available clinical studies are equivocal with respect to clinical and haemostatic effectiveness. We conducted a multicentre, open-label, randomized, non-inferiority trial comparing the clinical effectiveness of buffy-coat derived leukoreduced platelet co...

    journal_title：British journal of haematology

    pub_type： 杂志文章,多中心研究,随机对照试验

    doi：10.1111/j.1365-2141.2010.08227.x

    authors： Kerkhoffs JL,van Putten WL,Novotny VM,Te Boekhorst PA,Schipperus MR,Zwaginga JJ,van Pampus LC,de Greef GE,Luten M,Huijgens PC,Brand A,van Rhenen DJ,Dutch - Belgian HOVON cooperative group.

    更新日期：2010-07-01 00:00:00

  • Novel loss-of-function mutations of the haematopoiesis-related transcription factor, acute myeloid leukaemia 1/runt-related transcription factor 1, detected in acute myeloblastic leukaemia and myelodysplastic syndrome.

    abstract：:AML1/RUNX1, which encodes a transcription factor essential for definitive haematopoiesis, is a frequent target of leukaemia-associated chromosome translocations. Point mutations of this gene have also recently been associated with leukaemia and myelodysplastic syndrome (MDS). To further define the frequency and biolog...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2004.04966.x

    authors： Nakao M,Horiike S,Fukushima-Nakase Y,Nishimura M,Fujita Y,Taniwaki M,Okuda T

    更新日期：2004-06-01 00:00:00

  • Mutations of the p53 tumour suppressor gene in haematologic neoplasms.

    abstract：:Mutations of the p53 tumour suppressor gene have frequently been observed in several types of solid tumours and are believed to be implicated in the development of these tumours. To determine the relevance of p53 mutations in haematologic neoplasms, we performed polymerase chain reaction-single strand conformation pol...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1992.tb08213.x

    authors： Mori N,Wada M,Yokota J,Terada M,Okada M,Teramura M,Masuda M,Hoshino S,Motoji T,Oshimi K

    更新日期：1992-06-01 00:00:00

  • Adult T-cell leukaemia/lymphoma featuring a large granular lymphocyte leukaemia morphologically.

    abstract：:A 70-year-old man from an endemic area of human T-cell lymphotropic virus type I (HTLV-I) developed rapid generalized lymphadenopathy and abdominal tumours. The white blood cell count was 198.3 x 10(9)/l with 93% lymphocytes, 66.3% of which expressed large granular lymphocytes (LGLs). Bone marrow and lymph nodes were ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1994.tb04745.x

    authors： Sakamoto Y,Kawachi Y,Uchida T,Abe T,Mori M,Setsu K,Indo N

    更新日期：1994-02-01 00:00:00

  • Thrombotic thrombocytopenic purpura in patients with retroviral infection is highly responsive to plasma infusion therapy.

    abstract：:We prospectively studied presentation biological differences and the response to therapy in patients with thrombotic thrombocytopenic purpura (TTP) associated with, or unrelated to human immunodeficiency virus (HIV) infection. TTP patients underwent standard evaluations and were treated with prednisone 1 mg/kg in addi...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2004.05325.x

    authors： Novitzky N,Thomson J,Abrahams L,du Toit C,McDonald A

    更新日期：2005-02-01 00:00:00

  • Rh immunization facilitated by passively-administered anti-Rh?

    abstract：:The response to 0.8 ml of D-positive (ccDEE) red cells injected i.v., together with 1 microgram anti-D i.m., was studied in 13 D-negative male volunteers (test subjects); the red cells were labelled with 51Cr and were found to have a mean survival time of 24 d, after correction for Cr elution. Within the following 5 m...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1983.tb01997.x

    authors： Contreras M,Mollison PL

    更新日期：1983-01-01 00:00:00

  • Adrenal extramedullary haemopoiesis: diagnosis by a non-invasive method.

    abstract：:Bilateral adrenal masses were discovered incidentally in a patient with beta-thalassaemia intermedia. Endocrine investigations showed that the adrenal lesion was hormonally inactive. Extramedullary haemopoiesis involving the adrenal glands was suggested by the presence of reticuloendothelial tissue as demonstrated by ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.1998.00619.x

    authors： Wat NM,Tse KK,Chan FL,Lam KS

    更新日期：1998-03-01 00:00:00

  • SL-401 and SL-501, targeted therapeutics directed at the interleukin-3 receptor, inhibit the growth of leukaemic cells and stem cells in advanced phase chronic myeloid leukaemia.

    abstract：:While imatinib and other tyrosine kinase inhibitors (TKIs) are highly efficacious in the treatment of chronic myeloid leukaemia (CML), some patients become refractory to these therapies. After confirming that interleukin-3 receptor (IL3R, CD123) is highly expressed on CD34(+) /CD38(-) BCR-ABL1(+) CML stem cells, we in...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/bjh.12978

    authors： Frolova O,Benito J,Brooks C,Wang RY,Korchin B,Rowinsky EK,Cortes J,Kantarjian H,Andreeff M,Frankel AE,Konopleva M

    更新日期：2014-09-01 00:00:00

  • Molecular cytogenetics characterization of a novel translocation involving chromosomes 17 and 19 in a Ph+ adult acute lymphoblastic leukaemia.

    abstract：:We report a case of positive Philadelphia chromosome adult acute lymphoblastic leukaemia with a novel unbalanced translocation t(17;19), leading to trisomy of 17q21-qter. The patient did not obtain complete haematological response and died a few months after diagnosis. The significance of the 17q21-qter trisomy, resul...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2002.03846.x

    authors： Specchia G,Albano F,Anelli L,Storlazzi CT,Cimino G,Liso A,Zagaria A,Liso V,Rocchi M

    更新日期：2002-11-01 00:00:00

  • The C807T/G873A polymorphism in the platelet glycoprotein Ia gene and the risk of acute coronary syndrome in the Italian population.

    abstract：:Membrane glycoprotein (GP) Ia/IIa mediates platelet adhesion to collagen. The linked C807T/G873A polymorphisms in the GP Ia gene are correlated with a variable expression of the platelet surface receptor, the 807 TT/873 AA genotype being associated with a higher receptor density. Our study aimed to evaluate the possib...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2001.02868.x

    authors： Casorelli I,De Stefano V,Leone AM,Chiusolo P,Burzotta F,Paciaroni K,Rossi E,Andreotti F,Leone G,Maseri A

    更新日期：2001-07-01 00:00:00

  • Cord blood megakaryocytes do not complete maturation, as indicated by impaired establishment of endomitosis and low expression of G1/S cyclins upon thrombopoietin-induced differentiation.

    abstract：:Cord blood (CB) has successfully been used as a stem cell source for haemopoietic reconstitution. However, a significant delay in platelet engraftment is consistently found in CB versus adult peripheral blood (PB) or bone marrow transplants. We sought to determine whether or not CB megakaryocytes have reached terminal...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2001.02954.x

    authors： Bornstein R,García-Vela J,Gilsanz F,Auray C,Calés C

    更新日期：2001-08-01 00:00:00

  • Humanized CD52 monoclonal antibody Campath-1H as first-line treatment in chronic lymphocytic leukaemia.

    abstract：:The humanized CD52 monoclonal antibody Campath-1H was used as first-line therapy in nine patients with progressive chronic lymphocytic leukaemia (CLL). Intravenous (n = 5) or subcutaneous (n = 4) injections (up to 30 mg/inj.) were given three times a week for a maximum of 18 weeks. Three patients achieved a complete r...

    journal_title：British journal of haematology

    pub_type： 临床试验,杂志文章

    doi：10.1046/j.1365-2141.1996.450989.x

    authors： Osterborg A,Fassas AS,Anagnostopoulos A,Dyer MJ,Catovsky D,Mellstedt H

    更新日期：1996-04-01 00:00:00

  • Otlertuzumab (TRU-016), an anti-CD37 monospecific ADAPTIR(™) therapeutic protein, for relapsed or refractory NHL patients.

    abstract：:CD37 is cell surface tetraspanin present on normal and malignant B cells. Otlertuzumab (TRU-016) is a novel humanized anti-CD37 protein therapeutic. Patients with relapsed or refractory follicular non-Hodgkin lymphoma (FL), mantle cell lymphoma (MCL), or Waldenström's macroglobulinaemia (WM) received otlertuzumab at 2...

    journal_title：British journal of haematology

    pub_type： 杂志文章,多中心研究

    doi：10.1111/bjh.13099

    authors： Pagel JM,Spurgeon SE,Byrd JC,Awan FT,Flinn IW,Lanasa MC,Eisenfeld AJ,Stromatt SC,Gopal AK

    更新日期：2015-01-01 00:00:00

  • Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).

    abstract：:Three NUP98 chimaeras have previously been reported in T cell acute lymphoblastic leukaemia (T-ALL): NUP98/ADD3, NUP98/CCDC28A, and NUP98/RAP1GDS1. We report a T-ALL with t(11;18)(p15;q12) resulting in a novel NUP98 fusion. Fluorescent in situ hybridisation showed NUP98 and SET binding protein 1(SETBP1) fusion signals...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2006.06410.x

    authors： Panagopoulos I,Kerndrup G,Carlsen N,Strömbeck B,Isaksson M,Johansson B

    更新日期：2007-01-01 00:00:00

  • Administration of G-CSF to healthy subjects: the effects on eosinophil counts and mobilization of eosinophil granule proteins.

    abstract：:Any influence of G-CSF on eosinophils is mostly negative, although reports which have studied this relationship are few with varied results. The aim of this study was to investigate the influence of G-CSF administration to healthy subjects on eosinophils in peripheral blood. Blood eosinophil counts, serum levels of eo...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.1997.d01-2045.x

    authors： Karawajczyk M,Höglund M,Ericsson J,Venge P

    更新日期：1997-02-01 00:00:00

  • Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

    abstract：:Dyskeratosis congenita (DC) is an inherited disorder characterized by skin pigmentation, nail dystrophy and mucosal leucoplakia. In 1995 a Dyskeratosis Congenita Registry was established at the Hammersmith Hospital. In the 46 families recruited, 76/83 patients were male, suggesting that the major form of DC is X-linke...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.1998.01103.x

    authors： Knight S,Vulliamy T,Copplestone A,Gluckman E,Mason P,Dokal I

    更新日期：1998-12-01 00:00:00

  • Bone marrow transplantation for adults with acute leukaemia and 11q23 chromosomal abnormalities.

    abstract：:Adults with acute leukaemia and abnormalities of chromosome 11q23 have a poor prognosis when treated with conventional chemotherapy. To determine whether more intensive therapy can improve outcome for patients with this karyotypic finding, a retrospective analysis of all patients with acute leukaemia and 11q23 abnorma...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.1998.01030.x

    authors： Forrest DL,Nevill TJ,Horsman DE,Brockington DA,Fung HC,Toze CL,Conneally EA,Hogge DE,Sutherland HJ,Nantel SH,Shepherd JD,Barnett MJ

    更新日期：1998-12-01 00:00:00

  • Recombinant, activated factor VII for surgery in factor VII deficiency: a prospective evaluation - the surgical STER.

    abstract：:Excessive bleeding represents a major complication of surgical interventions and its control is especially relevant in patients with Congenital Bleeding Disorders (CBD). In factor VII (FVII) deficiency, scanty data on surgery is available to guide treatment strategies. The STER (Seven Treatment Evaluation Registry) is...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2010.08287.x

    authors： Mariani G,Dolce A,Batorova A,Auerswald G,Schved JF,Siragusa S,Napolitano M,Knudsen JB,Ingerslev J,STER and the International Factor VII Deficiency Study Groups.

    更新日期：2011-02-01 00:00:00

  • Progenitor cell subsets and engraftment kinetics in children undergoing autologous peripheral blood stem cell transplantation.

    abstract：:The main objective of the present study was to determine the role of CD34+ cell subsets in the haemopoietic recovery of children undergoing peripheral blood stem cell transplantation. For this purpose, 38 leukaphereses from 33 children with malignancies mobilized with G-CSF were analysed. Using dual-colour flow cytome...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.1998.00662.x

    authors： Gonzalez-Requejo A,Madero L,Díaz MA,Villa M,García-Escribano C,Balas A,Lillo R,García-Sanchez F,Benito A,Vicario JL

    更新日期：1998-04-01 00:00:00

  • Endogenous lymphokine activated killer cell activity and cytogenetic response in chronic myelogenous leukaemia treated with alpha-interferon.

    abstract：:The capacity of alpha-interferon (alpha-IFN) to induce lymphokine activated killer (LAK) cytotoxicity in the absence of interleukin-2 (IL2) has prompted us to test whether or not its ability to reduce dramatically the number of Ph1+ clones in chronic myelogenous leukaemia (CML) patients is in part mediated through the...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1993.tb08275.x

    authors： Meseri A,Delwail V,Brizard A,Lecron JC,Pelletier D,Guilhot F,Tanzer J,Goube de Laforest P

    更新日期：1993-02-01 00:00:00

  • Allogeneic haematopoietic cell transplantation for myelofibrosis in 30 patients 60-78 years of age.

    abstract：:We analysed the results of haematopoietic cell transplantation (HCT) in 30 patients aged 60-78 (median 65) years, with primary myelofibrosis or myelofibrosis evolving from antecedent polycythaemia vera or essential thrombocythaemia. Donors were human leucocyte antigen (HLA)-identical siblings (N = 15) or unrelated ind...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2011.08582.x

    authors： Samuelson S,Sandmaier BM,Heslop HE,Popat U,Carrum G,Champlin RE,Storb R,Prchal JT,Gooley TA,Deeg HJ

    更新日期：2011-04-01 00:00:00

  • Highly increased familial risks for specific lymphoma subtypes.

    abstract：:Studies have shown that familial risk contributes to aetiology of lymphomas. Using large population registries from Sweden, we evaluated risk of lymphoma subtypes among first-degree relatives of 2668 follicular lymphoma (FL) patients, 2517 diffuse large B-cell lymphoma (DLBCL) patients, and 6963 Hodgkin lymphoma (HL) ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2009.07721.x

    authors： Goldin LR,Björkholm M,Kristinsson SY,Turesson I,Landgren O

    更新日期：2009-06-01 00:00:00

  • Sequential mutational evaluation of CALR -mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression.

    abstract：:In myeloproliferative neoplasms (MPN), JAK2V617F allele burden measurement has an impact on prognosis that helps in patient monitoring. Less is known about its usefulness in CALR-mutated cases. Additional mutations found by next-generation sequencing have also shown an impact on prognosis that may drive therapeutic ch...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/bjh.16276

    authors： Cottin L,Riou J,Orvain C,Ianotto JC,Boyer F,Renard M,Truchan-Graczyk M,Murati A,Jouanneau-Courville R,Allangba O,Mansier O,Burroni B,Rousselet MC,Quintin-Roué I,Martin A,Sadot-Lebouvier S,Delneste Y,Chrétien JM,Hunaul

    更新日期：2020-03-01 00:00:00

  • Pathogenetic analysis of three cases with a bleeding disorder characterized by defective platelet aggregation induced by Ca2+ ionophores.

    abstract：:We report three cases of platelet dysfunction characterized by defective Ca2+ ionophore-induced platelet aggregation without impaired production of thromboxane A2 (TXA2). The patients had mild to moderate bleeding tendencies, and their platelet aggregation and secretion induced by ADP, collagen, arachidonic acid, stab...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2001.02637.x

    authors： Fuse I,Higuchi W,Uesugi Y,Aizawa Y

    更新日期：2001-03-01 00:00:00

  • Five leucocyte labelling techniques: a comparative in-vitro study.

    abstract：:During the past years, several authors have used labelled leucocytes to detect inflammatory foci. However, before routine use in man. It is necessary to control the viability of labelled cells. Five leucocyte labelling techniques (111In-oxine, 111In-oxine without extraction, 99mTc oxine, pyrophosphate 99mTc, 51Cr) wer...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1983.tb01983.x

    authors： Colas-Linhart N,Barbu M,Gougerot MA,Bok B

    更新日期：1983-01-01 00:00:00

  • Minimal residual disease detection after allogeneic stem cell transplantation is correlated to relapse in patients with acute lymphoblastic leukaemia.

    abstract：:Minimal residual disease (MRD) assessments were performed retrospectively after allogeneic stem cell transplantation (SCT) in 32 patients (23 children and nine adults) with acute lymphoblastic leukaemia (ALL). Using immunoglobulin and T-cell receptor rearrangements as clonal markers, MRD was detected after SCT in nine...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2003.04495.x

    authors： Uzunel M,Jaksch M,Mattsson J,Ringdén O

    更新日期：2003-09-01 00:00:00

  • Inherited variation in the xenobiotic transporter pathway and survival of multiple myeloma patients.

    abstract：:Over the past four decades, remarkable progress has been made in the treatment and prognosis of multiple myeloma (MM), although it remains an incurable disease. Chemotherapy resistance is a major hurdle for treatment efficacy. Drug resistance can be innate and so driven by genes involved in the drug metabolism pathway...

    journal_title：British journal of haematology

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1111/bjh.15521

    authors： Macauda A,Castelli E,Buda G,Pelosini M,Butrym A,Watek M,Kruszewski M,Vangsted AJ,Rymko M,Jamroziak K,Abildgaard N,Haastrup EK,Mazur G,Ríos R,Jurczyszyn A,Zawirska D,Dudziński M,Raźny M,Dutka M,Tomczak W,Suska A,

    更新日期：2018-11-01 00:00:00

  • Platelet aggregation in response to four low molecular weight heparins and the heparinoid ORG 10172 in patients with heparin-induced thrombocytopenia.

    abstract：:A simple rapid platelet aggregation test was used to evaluate cross-reactivity of four low molecular weight heparins and the heparinoid ORG 10172 in three patients with heparin-induced thrombocytopenia. The low molecular weight heparins cross-reacted in 11 out of 12 tests. The heparinoid ORG 10172 did not cross-react ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1994.tb04760.x

    authors： Keeling DM,Richards EM,Baglin TP

    更新日期：1994-02-01 00:00:00

  • Studies on immunological assay of vitamin K dependent factors. II. Comparison of four immunoassay methods with functional activity of protein C in human plasma.

    abstract：:We describe and compare five assay systems for Protein C (PC) in human plasma; a functional assay for PC activity, Laurell electroimmunoassay with EDTA or calcium (EDTA-Laurell or Ca-Laurell), radioimmunoassay (RIA) and immunoradiometric assay (IRMA). The lower limit of sensitivity of PC in normal reference plasma was...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1986.tb02915.x

    authors： Mikami S,Tuddenham EG

    更新日期：1986-01-01 00:00:00

  • Abnormal calcium transport into microsomes of grey platelet syndrome.

    abstract：:Calcium uptake into isolated membrane vesicles from two patients with a grey platelet syndrome has been investigated. An increase in calcium transport appears in both patients when compared to controls. Determination of the kinetic parameters of the calcium transport system gave similar apparent affinity for calcium a...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1987.tb04146.x

    authors： Enouf J,Lebret M,Bredoux R,Levy-Toledano S,Caen JP

    更新日期：1987-04-01 00:00:00