Literature DB >> 20417588

Pathophysiology and management of inherited bone marrow failure syndromes.

Akiko Shimamura1, Blanche P Alter.   

Abstract

The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly variable and much broader than previously recognized. The medical management of the inherited marrow failure syndromes differs from that of acquired aplastic anemia or malignancies arising in the general population. Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed. Copyright 2010 Elsevier Ltd. All rights reserved.

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Year:  2010        PMID： 20417588      PMCID： PMC3733544          DOI： 10.1016/j.blre.2010.03.002

Source DB:  PubMed          Journal:  Blood Rev        ISSN： 0268-960X            Impact factor:   8.250


  146 in total

1.  TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Authors:  Hong-Yan Du; Elena Pumbo; Jennifer Ivanovich; Ping An; Richard T Maziarz; Ulrike M Reiss; Deborah Chirnomas; Akiko Shimamura; Adrianna Vlachos; Jeffrey M Lipton; Rakesh K Goyal; Frederick Goldman; David B Wilson; Philip J Mason; Monica Bessler
Journal:  Blood       Date:  2008-10-17       Impact factor: 22.113

2.  Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome.

Authors:  Hiroki Yamaguchi; Gabriela M Baerlocher; Peter M Lansdorp; Stephen J Chanock; Olga Nunez; Elaine Sloand; Neal S Young
Journal:  Blood       Date:  2003-04-03       Impact factor: 22.113

Review 3.  Fanconi anemia.

Authors:  Grover C Bagby; Blanche P Alter
Journal:  Semin Hematol       Date:  2006-07       Impact factor: 3.851

4.  Diamond-Blackfan syndrome in adult patients.

Authors:  E P Balaban; G R Buchanan; M Graham; E P Frenkel
Journal:  Am J Med       Date:  1985-03       Impact factor: 4.965

5.  Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment.

Authors:  Y Dror; M H Freedman
Journal:  Blood       Date:  1999-11-01       Impact factor: 22.113

Review 6.  Fanconi's anaemia and pregnancy.

Authors:  B P Alter; C L Frissora; D S Halpérin; M H Freedman; U Chitkara; E Alvarez; L Lynch; B Adler-Brecher; A D Auerbach
Journal:  Br J Haematol       Date:  1991-03       Impact factor: 6.998

Review 7.  Androgens and liver tumors: Fanconi's anemia and non-Fanconi's conditions.

Authors:  Isela Velazquez; Blanche P Alter
Journal:  Am J Hematol       Date:  2004-11       Impact factor: 10.047

8.  Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response.

Authors:  Inga Köllner; Beate Sodeik; Sabine Schreek; Holger Heyn; Nils von Neuhoff; Manuela Germeshausen; Cornelia Zeidler; Martin Krüger; Brigitte Schlegelberger; Karl Welte; Carmela Beger
Journal:  Blood       Date:  2006-03-21       Impact factor: 22.113

9.  MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

Authors:  Manuela Germeshausen; Matthias Ballmaier; Karl Welte
Journal:  Hum Mutat       Date:  2006-03       Impact factor: 4.878

10.  Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients.

Authors:  Hester J T van Zeeburg; Peter J F Snijders; Thijs Wu; Eliane Gluckman; Jean Soulier; Jordi Surralles; Maria Castella; Jacqueline E van der Wal; Johan Wennerberg; Joseph Califano; Eunike Velleuer; Ralf Dietrich; Wolfram Ebell; Elisabeth Bloemena; Hans Joenje; C René Leemans; Ruud H Brakenhoff
Journal:  J Natl Cancer Inst       Date:  2008-11-11       Impact factor: 13.506
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  174 in total

1.  Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells.

Authors:  Raphael Ceccaldi; Kalindi Parmar; Enguerran Mouly; Marc Delord; Jung Min Kim; Marie Regairaz; Marika Pla; Nadia Vasquez; Qing-Shuo Zhang; Corinne Pondarre; Régis Peffault de Latour; Eliane Gluckman; Marina Cavazzana-Calvo; Thierry Leblanc; Jérôme Larghero; Markus Grompe; Gérard Socié; Alan D D'Andrea; Jean Soulier
Journal:  Cell Stem Cell       Date:  2012-06-07       Impact factor: 24.633

2.  Damage control and its costs: BM failure in Fanconi anemia stems from overactive p53/p21.

Authors:  Bogdan Dumitriu; Neal S Young
Journal:  Cell Stem Cell       Date:  2012-07-06       Impact factor: 24.633

Review 3.  Anemia of Central Origin.

Authors:  Kazusa Ishii; Neal S Young
Journal:  Semin Hematol       Date:  2015-07-09       Impact factor: 3.851

Review 4.  Neonatal manifestations of inherited bone marrow failure syndromes.

Authors:  Payal P Khincha; Sharon A Savage
Journal:  Semin Fetal Neonatal Med       Date:  2015-12-24       Impact factor: 3.926

5.  Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients.

Authors:  Raphael Ceccaldi; Delphine Briot; Jérôme Larghero; Nadia Vasquez; Catherine Dubois d'Enghien; Delphine Chamousset; Maria-Elena Noguera; Quinten Waisfisz; Olivier Hermine; Corinne Pondarre; Thierry Leblanc; Eliane Gluckman; Hans Joenje; Dominique Stoppa-Lyonnet; Gérard Socié; Jean Soulier
Journal:  J Clin Invest       Date:  2010-12-22       Impact factor: 14.808

6.  Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.

Authors:  Ken Matsui; Neelam Giri; Blanche P Alter; Ligia A Pinto
Journal:  Br J Haematol       Date:  2013-07-25       Impact factor: 6.998

7.  VACTERL-H Association and Fanconi Anemia.

Authors:  B P Alter; P S Rosenberg
Journal:  Mol Syndromol       Date:  2013-02

8.  Metformin improves defective hematopoiesis and delays tumor formation in Fanconi anemia mice.

Authors:  Qing-Shuo Zhang; Weiliang Tang; Matthew Deater; Ngoc Phan; Andrea N Marcogliese; Hui Li; Muhsen Al-Dhalimy; Angela Major; Susan Olson; Raymond J Monnat; Markus Grompe
Journal:  Blood       Date:  2016-10-18       Impact factor: 22.113

9.  Anti-Müllerian hormone deficiency in females with Fanconi anemia.

Authors:  Martha M Sklavos; Neelam Giri; Pamela Stratton; Blanche P Alter; Ligia A Pinto
Journal:  J Clin Endocrinol Metab       Date:  2014-01-17       Impact factor: 5.958

10.  Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.

Authors:  John H Fargo; Christian P Kratz; Neelam Giri; Sharon A Savage; Carolyn Wong; Karen Backer; Blanche P Alter; Bertil Glader
Journal:  Br J Haematol       Date:  2012-12-17       Impact factor: 6.998
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