当前位置： SCI文献检索 > INTERNATIONAL JOURNAL OF HEMATOLOGY期刊下所有文献 > XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility.

XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility.

Abstract：

:The XCIND syndrome is named after distinct hypersensitivity to ionizing (X-ray) irradiation, cancer susceptibility, immunodeficiency, neurological abnormality, and double-strand DNA breakage. The disorders comprising XCIND syndrome are usually inherited in an autosomal recessive manner. Ataxia telangiectasia (A-T) is one such disease, and is caused by biallelic germline mutation of the Ataxia telangiectasia mutated (ATM) gene. Heterozygous carriers of the ATM mutation, who do not show A-T-like clinical symptoms, are estimated to comprise 1 % of the population. Thus, understanding the biological basis of XCIND, including A-T, should help shed light on the pathogenesis of genetic diseases with cancer susceptibility.

journal_name

Int J Hematol

journal_title

International journal of hematology

authors

Mizutani S,Takagi M

doi

10.1007/s12185-012-1240-5

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

37-42

issue

1

eissn

0925-5710

issn

1865-3774

journal_volume

97

pub_type

杂志文章,评审

相关文献

INTERNATIONAL JOURNAL OF HEMATOLOGY文献大全
  • Transforming growth factor beta, pleiotropic regulator of hematopoietic stem cells: potential physiological and clinical relevance.

    abstract：:Transforming growth factor beta (TGF-beta) is a pleiotropic regulator of all stages of hematopoieis. Depending on the differentiation stage of the target cell, the local environment, and the concentration of TGF-beta, TGF-beta can be proproliferative or antiproliferative, proapoptotic or antiapoptotic, and/or prodiffe...

    journal_title：International journal of hematology

    pub_type： 杂志文章,评审

    doi：10.1007/BF02982545

    authors： Ruscetti FW,Bartelmez SH

    更新日期：2001-07-01 00:00:00

  • Tuberculosis-associated hemophagocytic syndrome in a hemodialysis patient with protracted fever.

    abstract：:Hemophagocytic syndrome (HPS) is a clinicopathological reflection of uncontrolled activation of macrophages. To our knowledge, only a few cases of tuberculosis-associated HPS in hemodialysis have been reported in the English literature. We report a case of tuberculosis-associated HPS during hemodialysis. Bone marrow a...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1532/ijh97.a10315

    authors： Chien CC,Chiou TJ,Lee MY,Hsiao LT,Kwang WK

    更新日期：2004-05-01 00:00:00

  • Narrowband ultraviolet B phototherapy ameliorates acute graft-versus-host disease by a mechanism involving in vivo expansion of CD4+CD25+Foxp3+ regulatory T cells.

    abstract：:Narrowband ultraviolet B phototherapy (NB-UVB) is a therapeutic alternative for haematopoietic stem cell transplantation-related skin graft-versus-host disease (GVHD). The beneficial effects of this intervention may be induced by direct irradiation of inflammatory cells in the skin; however, the putative involvement o...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/s12185-014-1530-1

    authors： Iyama S,Murase K,Sato T,Hashimoto A,Tatekoshi A,Horiguchi H,Kamihara Y,Ono K,Kikuchi S,Takada K,Kawano Y,Hayashi T,Miyanishi K,Sato Y,Takimoto R,Kobune M,Mori S,Kato J,Yamashita T,Kato J

    更新日期：2014-04-01 00:00:00

  • A chronic myeloid leukemia patient with atypical karyotype and BCR-ABL e13a3 transcript caused by complex chromosome rearrangement.

    abstract：:Philadelphia (Ph) chromosome as a result of t (9; 22) (q34; q11) is observed in more than 90% of chromic myeloid leukemia (CML) patients. Cases in which the typical Ph chromosome is not visible at the karyotype level comprise 5-10% of CML patients. CML cases with fusion transcripts such as e13a3 in which ABL exon 3 ra...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/s12185-009-0368-4

    authors： Masuko M,Furukawa T,Abe T,Wada R,Maruyama S,Kitajima T,Shibasaki Y,Toba K,Okada M,Aizawa Y

    更新日期：2009-09-01 00:00:00

  • IL10 and TNF variants and risk of non-Hodgkin lymphoma among three Asian populations.

    abstract：:Genetic variation in immune-related genes, such as IL10 and TNF, have been associated with the development of non-Hodgkin lymphoma (NHL) in Caucasian populations. To test the hypothesis that IL10 and TNF polymorphisms may be associated with NHL risk in Asian populations, we genotyped 20 single nucleotide polymorphisms...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/s12185-013-1345-5

    authors： Hosgood HD 3rd,Au WY,Kim HN,Liu J,Hu W,Tse J,Song B,Wong KF,Lee JJ,Chanock SJ,Siu LP,Purdue MP,Shin MH,Yu J,Liang R,Kim HJ,Rothman N,Lan Q

    更新日期：2013-06-01 00:00:00

  • Hematopoietic stem cell transplantation for therapy-related myelodysplastic syndrome and acute leukemia: a single-center analysis of 47 patients.

    abstract：:The prognosis of therapy-related myelodysplastic syndrome and acute leukemia (t-MDS/AL) remains poor. We retrospectively analyzed the data of 47 patients (31 AL and 16 MDS) who were treated at our institute. Thirty-three patients received disease-adapted chemotherapy, with a response rate of 73%, while 14 received no ...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/s12185-010-0640-7

    authors： Yokoyama H,Mori S,Kobayashi Y,Kurosawa S,Saito B,Fuji S,Maruyama D,Azuma T,Kim SW,Watanabe T,Tanosaki R,Tobinai K,Takaue Y,Fukuda T

    更新日期：2010-09-01 00:00:00

  • A donor thrombomodulin gene variation predicts graft-versus-host disease development and mortality after bone marrow transplantation.

    abstract：:Thrombomodulin, encoded by the THBD gene, is a critical regulator of coagulation and innate immunity. Its gene variant (rs3176123, 2729A>C) in the 3' untranslated region has been reported to be associated with vasculopathies. The present study analyzed the impact of THBD variation on transplant outcomes in a cohort of...

    journal_title：International journal of hematology

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1007/s12185-015-1852-7

    authors： Nomoto H,Takami A,Espinoza JL,Matsuo K,Mizuno S,Onizuka M,Kashiwase K,Morishima Y,Fukuda T,Kodera Y,Doki N,Miyamura K,Mori T,Nakao S,Ohtake S,Morishita E

    更新日期：2015-10-01 00:00:00

  • Real-world data on the efficacy and safety of daratumumab treatment in Hungarian relapsed/refractory multiple myeloma patients.

    abstract：:Daratumumab is a human anti-CD38 monoclonal antibody used in the treatment of refractory and relapsed multiple myeloma. We investigated the efficacy and safety of daratumumab therapy in a real-world setting. Ninety-nine Hungarian patients were included; 48 received monotherapy, while lenalidomide and bortezomib combin...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/s12185-019-02715-w

    authors： Lovas S,Varga G,Farkas P,Masszi T,Wohner N,Bereczki Á,Adamkovich N,Borbényi Z,Szomor Á,Alizadeh H,Szaleczky E,Wolf K,Schneider T,Plander M,Szendrei T,Csacsovszki O,Csukly Z,Rajnics P,Egyed M,Nagy Z,Rejtő L,Illés

    更新日期：2019-11-01 00:00:00

  • Suitable drug combination with bortezomib for multiple myeloma under stroma-free conditions and in contact with fibronectin or bone marrow stromal cells.

    abstract：:Several clinical trials have demonstrated the effectiveness of bortezomib in combination with various anti-myeloma agents; however, no definitive information is available regarding drugs best suited for use in combination with bortezomib. Using isobologram analysis, we investigated the combined effects of bortezomib w...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/s12185-014-1573-3

    authors： Kikuchi J,Koyama D,Mukai HY,Furukawa Y

    更新日期：2014-06-01 00:00:00

  • Elevated serum-soluble Fas ligand in histiocytic necrotizing lymphadenitis.

    abstract：:Recent studies have indicated that Fas and perforin-based mechanisms seem to induce apoptosis in histiocytic necrotizing lymphadenitis (HNL). In this study, we evaluated the serum levels of soluble Fas ligand (sFasL) in 30 HNL patients using paired sera. Elevations in sFasL levels were detected in 9 patients in the ac...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/BF02981907

    authors： Kato K,Ohshima K,Anzai K,Suzumiya J,Kikuchi M

    更新日期：2001-01-01 00:00:00

  • An effective salvage treatment using ifosfamide, etoposide, cytarabine, dexamethasone, and rituximab (R-IVAD) for patients with relapsed or refractory aggressive B-cell lymphoma.

    abstract：:We evaluated the efficacy and toxicity of a new salvage regimen, consisting of rituximab (375 mg/m(2), day 1), ifosfamide (1500 mg/m(2) on days 3-7), etoposide (150 mg/m(2), days 3-5), cytarabine (100 mg/m(2), days 3-5) and dexamethasone (40 mg/body, days 3-5) (R-IVAD) for relapsed or refractory aggressive B-cell lymp...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/s12185-011-0884-x

    authors： Miura K,Takei K,Kobayashi S,Kiso S,Hirabayashi Y,Hojo A,Kodaira H,Yagi M,Kurita D,Kobayashi Y,Tanaka T,Iriyama N,Hatta Y,Kura Y,Yamazaki T,Sawada U,Takeuchi J

    更新日期：2011-07-01 00:00:00

  • Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.

    abstract：:Sideroblastic anemias are anemic disorders characterized by the presence of ring sideroblasts in a patient's bone marrow. These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes were reported as responsible for congenital sideroblastic anemia; however,...

    journal_title：International journal of hematology

    pub_type： 杂志文章,评审

    doi：10.1007/s12185-017-2368-0

    authors： Furuyama K,Kaneko K

    更新日期：2018-01-01 00:00:00

  • The end is just the beginning: megakaryocyte apoptosis and platelet release.

    abstract：:Under influence of hematopoietic growth factors, particularly thrombopoietin (TPO), hematopoietic stem cells in the bone marrow go through a process of commitment, proliferation, differentiation, and maturation and become mature megakaryocytes. At this critical point, terminally differentiated megakaryocytes face a ne...

    journal_title：International journal of hematology

    pub_type： 杂志文章,评审

    doi：10.1007/BF02982078

    authors： Li J,Kuter DJ

    更新日期：2001-12-01 00:00:00

  • A novel type of factor XI deficiency showing compound genetic abnormalities: a nonsense mutation and an impaired transcription.

    abstract：:We studied a 29-year-old Japanese male patient with factor XI deficiency; we also studied his parents and one sibling. Factor XI coagulation activity and antigen levels were extremely low (less than 1% of normal level) in both the patient and his brother, and they were half the normal levels in both parents. Sequence ...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：

    authors： Kawaguchi T,Koga S,Hongo H,Komiyama Y,Li K,Ishihara S,Horikawa K,Hidaka M,Mitsuya H,Nakakuma H

    更新日期：2000-01-01 00:00:00

  • Spontaneous improvement of chronic immune thrombocytopenia in children: experience of 56 patients at a single institute.

    abstract：:Spontaneous improvement (SI) occurs more frequently in children with chronic immune thrombocytopenia (cITP) than in adults. It is generally accepted that, with the exception of splenectomy, conventional medical approaches for cITP do not change the natural course of the disease. Previous studies on pediatric cITP have...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/s12185-012-1211-x

    authors： Kato M,Koh K,Kikuchi A,Hanada R

    更新日期：2012-12-01 00:00:00

  • Pilot phase I/II study of new salvage therapy (CHASE) for refractory or relapsed malignant lymphoma.

    abstract：:A pilot phase I/II study was conducted as a single-institute trial for evaluation of the feasibility and efficacy of a new salvage chemotherapy, CHASE, for patients with refractory or relapsed lymphoma . The CHASE regimen, consisting of cyclophosphamide, cytosine arabinoside, etoposide, and dexamethasone, was administ...

    journal_title：International journal of hematology

    pub_type： 临床试验,杂志文章

    doi：10.1007/BF02986620

    authors： Ogura M,Kagami Y,Taji H,Suzuki R,Miura K,Takeuchi T,Morishima Y

    更新日期：2003-06-01 00:00:00

  • Long-term survival and late-onset complications of cancer patients treated with high-dose chemotherapy followed by autologous peripheral blood stem cell transplantation.

    abstract：:The antitumor effect of high-dose chemotherapy (HDC) followed by autologous peripheral blood stem cell transplantation (auto-PBSCT) is considered superior to that of conventional chemotherapy. However, the long-term benefits of this strategy in Japan remain unclear. Therefore, in this study, 109 cancer patients enroll...

    journal_title：International journal of hematology

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1007/BF02981946

    authors： Kohda K,Sakamaki S,Matsunaga T,Kuga T,Fujimi A,Konuma Y,Kusakabe T,Kogawa K,Akiyama T,Koike K,Hirayama Y,Sasagawa Y,Nojiri S,Hirata Y,Nishisato T,Niitsu GY,Hokkaido Society of Peripheral Blood Stem Cell Transplantation.

    更新日期：2001-02-01 00:00:00

  • CD34+ progenitor cell transplantation from two HLA-mismatched healthy fathers to two infants with severe aplastic anemia.

    abstract：:Pluripotent stem cells of hematopoiesis are included among CD34+ cells in the blood and bone marrow. After granulocyte-colony stimulating factor (G-CSF) mobilization, 1-2% of the mononuclear cells in the blood are CD34+ cells, which can be obtained by leukapheresis. We performed CD34+ progenitor cell transplantation i...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1016/s0925-5710(97)00088-1

    authors： Yasui M,Park YD,Okamura T,Chayama K,Yoshimoto T,Inoue M,Yagi K,Kawa K

    更新日期：1998-01-01 00:00:00

  • Graft-versus-host disease (GvHD) of the tongue and of the oral cavity: a large retrospective study.

    abstract：:Graft-versus-host disease (GvHD) causes severe mucositis, impairs feeding and favors infection. The objective of this study was to identify the impact of GvHD in the oral cavity. We reviewed all consecutive patients who developed oral GvHD after HSCT. The study period was over 14 years. 53 patients were identified. M/...

    journal_title：International journal of hematology

    pub_type： 杂志文章,meta分析,评审

    doi：10.1007/s12185-018-2520-5

    authors： Piccin A,Tagnin M,Vecchiato C,Al-Khaffaf A,Beqiri L,Kaiser C,Agreiter I,Negri G,Kob M,Di Pierro A,Vittadello F,Mazzoleni G,Eisendle K,Fontanella F

    更新日期：2018-12-01 00:00:00

  • Treatment of a child with myeloid/NK cell precursor acute leukemia with L-asparaginase and unrelated cord blood transplantation.

    abstract：:A 2-year-old Japanese boy who presented with multiple cervical, axillary, and inguinal lymphadenopathy was diagnosed by immunocytochemical analysis as having myeloid/natural killer (NK) cell precursor acute leukemia. Leukemic blasts in the bone marrow were positive for CD56 (NK marker), CD7 (T-cell marker), CD33 (myel...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/BF02982029

    authors： Tezuka K,Nakayama H,Honda K,Suzumiya J,Oshima K,Kitoh T,Ishii E

    更新日期：2002-02-01 00:00:00

  • Danazol therapy in idiopathic thrombocytopenic purpura: the efficacy of low-medium dose therapy.

    abstract：:To examine the effects and optimal dose of danazol on idiopathic thrombocytopenic purpura (ITP), we administered a low-medium dose to 14 patients with this disease. A low-medium dose of danazol was effective in maintaining the platelet count at a high level, even after the dose of prednisolone was reduced. A low-mediu...

    journal_title：International journal of hematology

    pub_type： 临床试验,杂志文章

    doi：

    authors： Kondo H,Iseki T,Goto S,Takaso T,Ohto M,Okuda K

    更新日期：1992-06-01 00:00:00

  • Establishment of an HS23 stromal cell-dependent myeloma cell line: fibronectin and IL-6 are critical.

    abstract：:A multiple myeloma (MM) cell line, MSG1, which depends on HS23 stromal cells for its survival, was established from the pleural effusion of a patient with MM who expressed the M-protein of IgA-λ in his serum. During the first 2 months of culture, the myeloma cells survived on adhesive cells from the pleural effusion a...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/s12185-010-0698-2

    authors： Sakai A,Oda M,Itagaki M,Yoshida N,Arihiro K,Kimura A

    更新日期：2010-11-01 00:00:00

  • Oncogenic transcriptional program driven by TAL1 in T-cell acute lymphoblastic leukemia.

    abstract：:TAL1/SCL is a prime example of an oncogenic transcription factor that is abnormally expressed in acute leukemia due to the replacement of regulator elements. This gene has also been recognized as an essential regulator of hematopoiesis. TAL1 expression is strictly regulated in a lineage- and stage-specific manner. Suc...

    journal_title：International journal of hematology

    pub_type： 杂志文章,评审

    doi：10.1007/s12185-018-2518-z

    authors： Tan TK,Zhang C,Sanda T

    更新日期：2019-01-01 00:00:00

  • Proposed diagnostic criteria, disease severity classification and treatment strategy for TAFRO syndrome, 2015 version.

    abstract：:TAFRO syndrome is a systemic inflammatory disorder characterized by thrombocytopenia, anasarca including pleural effusion and ascites, fever, renal insufficiency, and organomegaly including hepatosplenomegaly and lymphadenopathy. Its onset may be acute or sub-acute, but its etiology is undetermined. Although several c...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/s12185-016-1979-1

    authors： Masaki Y,Kawabata H,Takai K,Kojima M,Tsukamoto N,Ishigaki Y,Kurose N,Ide M,Murakami J,Nara K,Yamamoto H,Ozawa Y,Takahashi H,Miura K,Miyauchi T,Yoshida S,Momoi A,Awano N,Ikushima S,Ohta Y,Furuta N,Fujimoto S,Ka

    更新日期：2016-06-01 00:00:00

  • Oxidative stress response and signaling in hematological malignancies and HIV infection.

    abstract：:Hematopoietic cells can be exposed to a wide spectrum of oxidative stresses. Excessive oxidative stress damages biomolecules such as DNA, proteins, and lipids, leading to cellular dysfunction and cell death. Accumulation of such damage provokes noxious effects on individuals, resulting in diseases such as hematopoieti...

    journal_title：International journal of hematology

    pub_type： 杂志文章,评审

    doi：

    authors： Masutani H

    更新日期：2000-01-01 00:00:00

  • A variant form of acute promyelocytic leukemia with marked myelofibrosis.

    abstract：:We describe a variant form, French-American-British (FAB) M3v, of acute promyelocytic leukemia (APL; FAB M3) with atypical morphocytochemical features, immature antigens (CD34 and HLA-DR) and marked myelofibrosis (MF). Usual APL cells do not express CD34 or HLA-DR antigens. MF may be more frequently observed in patien...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1007/BF02982068

    authors： Fukuno K,Tsurumi H,Yoshikawa T,Yamada T,Oyama M,Moriwaki H

    更新日期：2001-10-01 00:00:00

  • Anti-tissue factor pathway inhibitor (TFPI) therapy: a novel approach to the treatment of haemophilia.

    abstract：:Novel approaches to the treatment of haemophilia are needed due to the limitations of the current standard of care, factor replacement therapy. Aspirations include lessening the treatment burden and effectively preventing joint damage. Treating haemophilia by restoring thrombin generation may be an effective approach....

    journal_title：International journal of hematology

    pub_type： 杂志文章,评审

    doi：10.1007/s12185-018-2548-6

    authors： Chowdary P

    更新日期：2020-01-01 00:00:00

  • Chromosomal abnormalities and oncogenes.

    abstract：:The alterations of transcription factor genes by chromosomal translocations play an important role in leukemogenesis and lymphomagenesis. The alterations are classified into two groups. One is the chimeric gene formation, and the other is the aberrant expression without structural changes. The former type is associate...

    journal_title：International journal of hematology

    pub_type： 杂志文章,评审

    doi：10.1016/0925-5710(96)00440-9

    authors： Mitani K

    更新日期：1996-02-01 00:00:00

  • NOTCH and NF-κB interplay in chronic lymphocytic leukemia is independent of genetic lesion.

    abstract：:The NOTCH and nuclear factor kappa B (NF-κB) pathways are both constitutively activated in Chronic Lymphocytic Leukemia (CLL). We first described the NOTCH1 PEST domain mutation in a CLL subgroup, but the activation of the NOTCH pathway in NOTCH1-unmutated cases remains unexplained. Here, we investigated whether genet...

    journal_title：International journal of hematology

    pub_type： 临床试验,杂志文章

    doi：10.1007/s12185-013-1368-y

    authors： Baldoni S,Sportoletti P,Del Papa B,Aureli P,Dorillo E,Rosati E,Ciurnelli R,Marconi P,Falzetti F,Di Ianni M

    更新日期：2013-08-01 00:00:00

  • Dilated cardiomyopathy during the course of hemolytic uremic syndrome.

    abstract：:A 47-year-old woman presented with severe hemolytic uremic syndrome (HUS) followed by heart failure. An echocardiogram showed an ejection fraction of 20%, and a cardiac catheterization followed by a myocardial histologic evaluation demonstrated dilated cardiomyopathy. Plasma exchange and hemodialysis were performed re...

    journal_title：International journal of hematology

    pub_type： 杂志文章

    doi：10.1532/IJH97.E0713

    authors： Alexopoulou A,Dourakis SP,Zovoilis C,Agapitos E,Androulakis A,Filiotou A,Archimandritis AJ

    更新日期：2007-11-01 00:00:00