Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.

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 sequencing indicated that the responsible mutation is alpha 791 Asp----Glu (GAC----GAA). As in most alpha-spectrin variants associated with elliptocytosis, the change alters helix 3 of the proposed triple helical model of spectrin structure. Modified helix 3 in repeat alpha 8 is the most distant from the N-terminus of alpha-spectrin in known variants associated with elliptocytosis.

journal_name

Blood

journal_title

Blood

authors

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

subject

Has Abstract,Author List Incomplete

pub_date

1992-08-01 00:00:00

pages

809-15

issue

3

eissn

0006-4971

issn

1528-0020

journal_volume

80

pub_type

杂志文章

相关文献

BLOOD文献大全
  • Immunity of patients surviving 20 to 30 years after allogeneic or syngeneic bone marrow transplantation.

    abstract::The duration of immunodeficiency following marrow transplantation is not known. Questionnaires were used to study the infection rates in 72 patients surviving 20 to 30 years after marrow grafting. Furthermore, in 33 of the 72 patients and in 16 donors (siblings who originally donated the marrow) leukocyte subsets were...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v98.13.3505

    authors: Storek J,Joseph A,Espino G,Dawson MA,Douek DC,Sullivan KM,Flowers ME,Martin P,Mathioudakis G,Nash RA,Storb R,Appelbaum FR,Maloney DG

    更新日期:2001-12-15 00:00:00

  • Outcome of AL amyloidosis after high-dose melphalan and autologous stem cell transplantation: long-term results in a series of 421 patients.

    abstract::Previous studies have suggested that, in patients with AL amyloidosis treated with high-dose melphalan and autologous stem-cell transplantation (HDM/SCT), the greatest benefit is seen in those patients achieving a hematologic complete response (CR). We analyzed a series of 421 consecutive patients treated with HDM/SCT...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2011-01-330738

    authors: Cibeira MT,Sanchorawala V,Seldin DC,Quillen K,Berk JL,Dember LM,Segal A,Ruberg F,Meier-Ewert H,Andrea NT,Sloan JM,Finn KT,Doros G,Blade J,Skinner M

    更新日期:2011-10-20 00:00:00

  • Vitamin B12 deficiency from the perspective of a practicing hematologist.

    abstract::B12 deficiency is the leading cause of megaloblastic anemia, and although more common in the elderly, can occur at any age. Clinical disease caused by B12 deficiency usually connotes severe deficiency, resulting from a failure of the gastric or ileal phase of physiological B12 absorption, best exemplified by the autoi...

    journal_title:Blood

    pub_type: 杂志文章,评审

    doi:10.1182/blood-2016-10-569186

    authors: Green R

    更新日期:2017-05-11 00:00:00

  • Trial of repeated low-dose aspirin in diabetic angiopathy.

    abstract::We compared the ability of aspirin to suppress platelet aggregation and thromboxane synthesis in ten normal subjects and ten patients with diabetic angiopathy and high rate of entry of new platelets into the circulation. When single doses of 100 to 1,000 mg aspirin were ingested daily for 1 month, there were time gaps...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: DiMinno G,Silver MJ,Cerbone AM,Murphy S

    更新日期:1986-10-01 00:00:00

  • Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.

    abstract::In the phase 3 Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE), at 1 year, eliglustat was noninferior to imiglucerase enzyme therapy in maintaining stable platelet counts, hemoglobin concentrations, and spleen and l...

    journal_title:Blood

    pub_type: 杂志文章,随机对照试验

    doi:10.1182/blood-2016-12-758409

    authors: Cox TM,Drelichman G,Cravo R,Balwani M,Burrow TA,Martins AM,Lukina E,Rosenbloom B,Goker-Alpan O,Watman N,El-Beshlawy A,Kishnani PS,Pedroso ML,Gaemers SJM,Tayag R,Peterschmitt MJ

    更新日期:2017-04-27 00:00:00

  • FERM domain mutations induce gain of function in JAK3 in adult T-cell leukemia/lymphoma.

    abstract::Adult T-cell leukemia/lymphoma (ATLL) is an incurable disease where most patients succumb within the first year of diagnosis. Both standard chemotherapy regimens and mAbs directed against ATLL tumor markers do not alter this aggressive clinical course. Therapeutic development would be facilitated by the discovery of g...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2010-12-319467

    authors: Elliott NE,Cleveland SM,Grann V,Janik J,Waldmann TA,Davé UP

    更新日期:2011-10-06 00:00:00

  • In vitro identification of single CD34+CD38- cells with both lymphoid and myeloid potential.

    abstract::Human hematopoietic stem cells are pluripotent, ie, capable of producing both lymphoid and myeloid progeny, and are therefore used for transplantation and gene therapy. An in vitro culture system was developed to study the multi-lineage developmental potential of a candidate human hematopoietic stem cell population, C...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Hao QL,Smogorzewska EM,Barsky LW,Crooks GM

    更新日期:1998-06-01 00:00:00

  • Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex.

    abstract::As the principal component of the membrane skeleton, spectrin confers integrity and flexibility to red cell membranes. Although this network involves many interactions, the most common hemolytic anemia mutations that disrupt erythrocyte morphology affect the spectrin tetramerization domains. Although much is known cli...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2010-01-261396

    authors: Ipsaro JJ,Harper SL,Messick TE,Marmorstein R,Mondragón A,Speicher DW

    更新日期:2010-06-10 00:00:00

  • Karyotype is an independent prognostic factor in adult acute lymphoblastic leukemia (ALL): analysis of cytogenetic data from patients treated on the Medical Research Council (MRC) UKALLXII/Eastern Cooperative Oncology Group (ECOG) 2993 trial.

    abstract::Pretreatment cytogenetics is a known predictor of outcome in hematologic malignancies. However, its usefulness in adult acute lymphoblastic leukemia (ALL) is generally limited to the presence of the Philadelphia (Ph) chromosome because of the low incidence of other recurrent abnormalities. We present centrally reviewe...

    journal_title:Blood

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1182/blood-2006-10-051912

    authors: Moorman AV,Harrison CJ,Buck GA,Richards SM,Secker-Walker LM,Martineau M,Vance GH,Cherry AM,Higgins RR,Fielding AK,Foroni L,Paietta E,Tallman MS,Litzow MR,Wiernik PH,Rowe JM,Goldstone AH,Dewald GW,Adult Leukaemia Worki

    更新日期:2007-04-15 00:00:00

  • Favorable outcome of B-cell acute lymphoblastic leukemia in childhood: a report of three consecutive studies of the BFM group.

    abstract::In 1981 the BFM group introduced a new treatment strategy for B-cell acute lymphoblastic leukemia (B-ALL). A cytoreductive prephase (prednisone/cyclophosphamide) was followed by eight 5-day courses of chemotherapy. Fractionated cyclophosphamide, methotrexate (MTX) 0.5 g/m2 (24-hour infusion), and MTX intrathecally wer...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Reiter A,Schrappe M,Ludwig WD,Lampert F,Harbott J,Henze G,Niemeyer CM,Gadner H,Müller-Weihrich S,Ritter J

    更新日期:1992-11-15 00:00:00

  • Baboon envelope pseudotyped LVs outperform VSV-G-LVs for gene transfer into early-cytokine-stimulated and resting HSCs.

    abstract::Hematopoietic stem cell (HSC)-based gene therapy holds promise for the cure of many diseases. The field is now moving toward the use of lentiviral vectors (LVs) as evidenced by 4 successful clinical trials. These trials used vesicular-stomatitis-virus-G protein (VSV-G)-LVs at high doses combined with strong cytokine-c...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2014-02-558163

    authors: Girard-Gagnepain A,Amirache F,Costa C,Lévy C,Frecha C,Fusil F,Nègre D,Lavillette D,Cosset FL,Verhoeyen E

    更新日期:2014-08-21 00:00:00

  • Multiple myeloma cell survival relies on high activity of protein kinase CK2.

    abstract::Casein kinase 2 (CK2) is a ubiquitous cellular serine-threonine kinase that regulates relevant biologic processes, many of which are dysregulated in malignant plasma cells. Here we investigated its role in multiple myeloma (MM). Analysis of MM cell lines and highly purified malignant plasma cells in patients with MM r...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2005-11-013672

    authors: Piazza FA,Ruzzene M,Gurrieri C,Montini B,Bonanni L,Chioetto G,Di Maira G,Barbon F,Cabrelle A,Zambello R,Adami F,Trentin L,Pinna LA,Semenzato G

    更新日期:2006-09-01 00:00:00

  • On the 5q- deletion: clinical and cytogenetic observations in ten patients and review of the literature.

    abstract::Clinical and cytogenetic findings in 10 patients with deletions of the long arm of chromosomes 5 (5q-) are reported. Five cases had refractory anemia, the preleukemic syndrome, or refractory anemia with an excess of blasts; in all but one, the 5q- was the single initial abnormality. Three patients had overt leukemia; ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Swolin B,Weinfeld A,Ridell B,Waldenström J,Westin J

    更新日期:1981-11-01 00:00:00

  • Gene expression analysis uncovers similarity and differences among Burkitt lymphoma subtypes.

    abstract::Burkitt lymphoma (BL) is classified into 3 clinical subsets: endemic, sporadic, and immunodeficiency-associated BL. So far, possible differences in their gene expression profiles (GEPs) have not been investigated. We studied GEPs of BL subtypes, other B-cell lymphomas, and B lymphocytes; first, we found that BL is a u...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2010-08-301556

    authors: Piccaluga PP,De Falco G,Kustagi M,Gazzola A,Agostinelli C,Tripodo C,Leucci E,Onnis A,Astolfi A,Sapienza MR,Bellan C,Lazzi S,Tumwine L,Mawanda M,Ogwang M,Calbi V,Formica S,Califano A,Pileri SA,Leoncini L

    更新日期:2011-03-31 00:00:00

  • Serum levels of substance P are elevated in patients with sickle cell disease and increase further during vaso-occlusive crisis.

    abstract::As a mediator of neurogenic inflammation and pain, we hypothesized that levels of the neuropeptide Substance P (SP) would be elevated in patients with sickle cell disease (SCD) with vaso-occlusive pain crisis. SP is a known stimulator of tumor necrosis factor-alpha (TNF-alpha) release and a promoter of interleukin-8 (...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Michaels LA,Ohene-Frempong K,Zhao H,Douglas SD

    更新日期:1998-11-01 00:00:00

  • Specialized regulatory T cells control venous blood clot resolution through SPARC.

    abstract::The cells and mechanisms involved in blood clot resorption are only partially known. We show that regulatory T (Treg) cells accumulate in venous blood clots and regulate thrombolysis by controlling the recruitment, differentiation and matrix metalloproteinase (MMP) activity of monocytes. We describe a clot Treg popula...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.2020005407

    authors: Shahneh F,Alexandra G,Klein M,Frauhammer F,Bopp T,Schäfer K,Raker V,Becker C

    更新日期:2020-09-15 00:00:00

  • Effect of age on hematopoiesis in man.

    abstract::We have shown previously that the cause of anemia in healthy elderly subjects can usually not be identified. In this study, hematopoiesis was examined in 18 healthy elderly subjects with unexplained anemia and in 15 young and 15 healthy elderly individuals without anemia. No reduction in circulating testosterone was n...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Lipschitz DA,Udupa KB,Milton KY,Thompson CO

    更新日期:1984-03-01 00:00:00

  • Progenitor cell assays predict hematopoietic reconstitution after syngeneic transplantation in mice.

    abstract::Hematopoietic reconstitution following syngeneic bone marrow transplantation with graded doses of untreated and drug-treated bone marrow was studied in B6D2F1 mice. Granulocyte-macrophage colony-forming units (CFU-GM) and spleen colony-forming units (CFU-S) showed similar in vitro drug sensitivities. Both the speed of...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Jones RJ,Sharkis SJ,Celano P,Colvin OM,Rowley SD,Sensenbrenner LL

    更新日期:1987-10-01 00:00:00

  • Human allogeneic stem cell maintenance and differentiation in a long-term multilineage SCID-hu graft.

    abstract::The ability to determine the functional capacity of putative human hematopoietic stem cell (HSC) populations requires in vivo assays in which long-term multilineage differentiation can be assessed. We hypothesized that if human fetal bone was transplanted adjacent to a fetal thymus fragment in severe combined immunode...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Fraser CC,Kaneshima H,Hansteen G,Kilpatrick M,Hoffman R,Chen BP

    更新日期:1995-09-01 00:00:00

  • Total lymphoid irradiation and cyclophosphamide as preparation for bone marrow transplantation in severe aplastic anemia.

    abstract::A new combination of total lymphoid irradiation and cyclophosphamide was used prior to bone marrow transplantation in an attempt to achieve decreased rejection rates and graft-versus-host disease. Nine previously transfused patients with severe aplastic anemia received marrow from an HLA-identical, MLC-compatible sibl...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Ramsay NK,Kim T,Nesbit ME,Krivit W,Coccia PF,Levitt SH,Woods WG,Kersey JH

    更新日期:1980-02-01 00:00:00

  • Antiphospholipid antibodies directed against a combination of phospholipids with prothrombin, protein C, or protein S: an explanation for their pathogenic mechanism?

    abstract::Despite many studies on the pathophysiology of antiphospholipid antibodies (aPL), the mechanism by which aPL causes thrombosis has not been established. We have tried to elucidate the paradox between the prolongation of the clotting time of phospholipid-dependent coagulation tests in vitro and the occurrence of thromb...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Oosting JD,Derksen RH,Bobbink IW,Hackeng TM,Bouma BN,de Groot PG

    更新日期:1993-05-15 00:00:00

  • Identification of an NK/T cell-restricted progenitor in adult bone marrow contributing to bone marrow- and thymic-dependent NK cells.

    abstract::Although bone marrow (BM) is the main site of natural killer (NK)-cell development in adult mice, recent studies have identified a distinct thymic-dependent NK pathway, implicating a possible close link between NK- and T-cell development in adult hematopoiesis. To investigate whether a potential NK-/T-lineage restrict...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2009-10-247130

    authors: Nozad Charoudeh H,Tang Y,Cheng M,Cilio CM,Jacobsen SE,Sitnicka E

    更新日期:2010-07-15 00:00:00

  • Ectopic expression of TAL-1 protein in Ly-6E.1-htal-1 transgenic mice induces defects in B- and T-lymphoid differentiation.

    abstract::The tal-1 gene encodes a basic helix-loop-helix (bHLH) transcription factor required for primitive and definitive hematopoiesis. Additionally, ectopic activation of the tal-1 gene during T lymphopoiesis occurs in numerous cases of human T-cell acute lymphoblastic leukemia. With the use of transgenic mice, we show that...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v100.2.491

    authors: Goardon N,Schuh A,Hajar I,Ma X,Jouault H,Dzierzak E,Roméo PH,Maouche-Chrétien L

    更新日期:2002-07-15 00:00:00

  • Mode of inheritance of the higher degree of megakaryocyte polyploidization in C3H mice. I. Evidence for a role of genomic imprinting in megakaryocyte polyploidy determination.

    abstract::C3H mice have higher average ploidy megakaryocytes than all other mouse strains tested, but the mode of inheritance of this anomaly is unknown. Therefore, to clarify the genetics of high ploidy megakaryocytes in C3H mice, we measured megakaryocyte DNA content from both male and female offspring from F1, as well as bac...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: McDonald TP,Jackson CW

    更新日期:1994-03-15 00:00:00

  • Reversible skeletal disease and high fluoride serum levels in hematologic patients receiving voriconazole.

    abstract::We here investigate the occurrence of fluoride intake-associated alterations in patients with hematologic disease on triazol antifungal medication. Clinical, laboratory, and radiology data of overall 43 patients with hematologic malignancies taking voriconazole (n = 20), posaconazole (n = 8), and itraconazole (n = 4),...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2012-01-403030

    authors: Gerber B,Guggenberger R,Fasler D,Nair G,Manz MG,Stussi G,Schanz U

    更新日期:2012-09-20 00:00:00

  • HTLV-III/LAV antibody status of spouses and household contacts assisting in home infusion of hemophilia patients.

    abstract::Thirty-four adult and pediatric hemophilia A and B patients and 50 nonhemophilic members belonging to 28 families were enrolled in August 1984 in a study of human T cell lymphotropic virus type III/lymphadenopathy-associated virus (HTLV-III/LAV) antibody status and T cell subpopulation numbers. All 50 household contac...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Lawrence DN,Jason JM,Bouhasin JD,McDougal JS,Knutsen AP,Evatt BL,Joist JH

    更新日期:1985-09-01 00:00:00

  • Cytogenetic analysis of 434 consecutively ascertained specimens of non-Hodgkin's lymphoma: clinical correlations.

    abstract::Cytogenetic and histopathologic data were correlated with clinical parameters from 423 patients with non-Hodgkin's lymphoma (NHL). Clinical correlations were performed on subgroups of 149 patients with low-grade lymphoma (LG) and 205 patients with diffuse lymphoma with a large cell component (DLLC). Correlations were ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Offit K,Wong G,Filippa DA,Tao Y,Chaganti RS

    更新日期:1991-04-01 00:00:00

  • Efficacy of venetoclax in relapsed chronic lymphocytic leukemia is influenced by disease and response variables.

    abstract::To define the efficacy of venetoclax with extended follow-up and identify clinical or biological treatment effect modifiers, updated data for previously treated patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) enrolled in 4 early-phase trials were pooled. Rates of response, complete...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.2018882555

    authors: Roberts AW,Ma S,Kipps TJ,Coutre SE,Davids MS,Eichhorst B,Hallek M,Byrd JC,Humphrey K,Zhou L,Chyla B,Nielsen J,Potluri J,Kim SY,Verdugo M,Stilgenbauer S,Wierda WG,Seymour JF

    更新日期:2019-07-11 00:00:00

  • Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc.

    abstract::Leukocyte adhesion deficiency II (LAD II), also known as congenital disorder of glycosylation IIc (CDG-IIc), is a human disease in which a defective GDP-fucose transporter (SLC35C1) causes developmental defects and an immunodeficiency that is based on the lack of fucosylated selectin ligands. Since the study of in viv...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2008-01-132035

    authors: Yakubenia S,Frommhold D,Schölch D,Hellbusch CC,Körner C,Petri B,Jones C,Ipe U,Bixel MG,Krempien R,Sperandio M,Wild MK

    更新日期:2008-08-15 00:00:00

  • Neurologic complications after allogeneic marrow transplantation for sickle cell anemia.

    abstract::Seven of 21 patients with sickle cell anemia developed neurologic complications 5 to 243 days (median, 33 days) after allogeneic marrow transplantation. Among these 7 patients, indications for transplantation included either a past history of stroke (4 patients) or recurrent severe vaso-occlusive events (3 patients). ...

    journal_title:Blood

    pub_type: 临床试验,杂志文章

    doi:

    authors: Walters MC,Sullivan KM,Bernaudin F,Souillet G,Vannier JP,Johnson FL,Lenarsky C,Powars D,Bunin N,Ohene-Frempong K

    更新日期:1995-02-15 00:00:00