Literature DB >> 26813945

Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies.

Tim Ripperger1, Kiran Tawana2, Christian Kratz3, Brigitte Schlegelberger1, Jude Fitzgibbon2, Doris Steinemann1.   

Abstract

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Year:  2016        PMID： 26813945      PMCID： PMC4970691          DOI： 10.1038/ejhg.2015.278

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  13 in total

1.  Recurrent CDC25C mutations drive malignant transformation in FPD/AML.

Authors:  Akihide Yoshimi; Takashi Toya; Masahito Kawazu; Toshihide Ueno; Ayato Tsukamoto; Hiromitsu Iizuka; Masahiro Nakagawa; Yasuhito Nannya; Shunya Arai; Hironori Harada; Kensuke Usuki; Yasuhide Hayashi; Etsuro Ito; Keita Kirito; Hideaki Nakajima; Motoshi Ichikawa; Hiroyuki Mano; Mineo Kurokawa
Journal:  Nat Commun       Date:  2014-08-27       Impact factor: 14.919

2.  A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation?

Authors:  T Ripperger; D Steinemann; G Göhring; J Finke; C M Niemeyer; B Strahm; B Schlegelberger
Journal:  Leukemia       Date:  2009-04-23       Impact factor: 11.528

3.  No evidence for ITSN1 loss in a patient with mental retardation and complex chromosomal rearrangements of 21q21-21q22.

Authors:  Tim Ripperger; Marcel Tauscher; Kathrin Thomay; Gudrun Göhring; Doris Kraemer; Brigitte Schlegelberger; Doris Steinemann
Journal:  Leuk Res       Date:  2013-03-14       Impact factor: 3.156

4.  Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

Authors:  W J Song; M G Sullivan; R D Legare; S Hutchings; X Tan; D Kufrin; J Ratajczak; I C Resende; C Haworth; R Hock; M Loh; C Felix; D C Roy; L Busque; D Kurnit; C Willman; A M Gewirtz; N A Speck; J H Bushweller; F P Li; K Gardiner; M Poncz; J M Maris; D G Gilliland
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

5.  Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects.

Authors:  Jon P Connelly; Erika M Kwon; Yongxing Gao; Niraj S Trivedi; Abdel G Elkahloun; Marshall S Horwitz; Linzhao Cheng; P Paul Liu
Journal:  Blood       Date:  2014-09-18       Impact factor: 22.113

6.  Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from familial platelet disorder with propensity to myeloid malignancy restores normal megakaryopoiesis.

Authors:  Hiromitsu Iizuka; Yuki Kagoya; Keisuke Kataoka; Akihide Yoshimi; Masashi Miyauchi; Kazuki Taoka; Keiki Kumano; Takashi Yamamoto; Akitsu Hotta; Shunya Arai; Mineo Kurokawa
Journal:  Exp Hematol       Date:  2015-06-11       Impact factor: 3.084

7.  In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.

Authors:  Joëlle Michaud; Feng Wu; Motomi Osato; Gregory M Cottles; Masatoshi Yanagida; Norio Asou; Katsuya Shigesada; Yoshiaki Ito; Kathleen F Benson; Wendy H Raskind; Colette Rossier; Stylianos E Antonarakis; Sara Israels; Archie McNicol; Harvey Weiss; Marshall Horwitz; Hamish S Scott
Journal:  Blood       Date:  2002-02-15       Impact factor: 22.113

8.  Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.

Authors:  Julia Skokowa; Doris Steinemann; Jenny E Katsman-Kuipers; Cornelia Zeidler; Olga Klimenkova; Maksim Klimiankou; Murat Unalan; Siarhei Kandabarau; Vahagn Makaryan; Renee Beekman; Kira Behrens; Carol Stocking; Julia Obenauer; Susanne Schnittger; Alexander Kohlmann; Marijke G Valkhof; Remco Hoogenboezem; Gudrun Göhring; Dirk Reinhardt; Brigitte Schlegelberger; Martin Stanulla; Peter Vandenberghe; Jean Donadieu; C Michel Zwaan; Ivo P Touw; Marry M van den Heuvel-Eibrink; David C Dale; Karl Welte
Journal:  Blood       Date:  2014-02-12       Impact factor: 22.113

9.  Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Authors:  Mylène Béri-Dexheimer; Véronique Latger-Cannard; Christophe Philippe; Céline Bonnet; Pascal Chambon; Virginie Roth; Marie-José Grégoire; Pierre Bordigoni; Thomas Lecompte; Bruno Leheup; Philippe Jonveaux
Journal:  Eur J Hum Genet       Date:  2008-05-14       Impact factor: 4.246

10.  Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy.

Authors:  Carolyn J Owen; Cynthia L Toze; Anna Koochin; Donna L Forrest; Clayton A Smith; Jane M Stevens; Shannon C Jackson; Man-Chiu Poon; Gary D Sinclair; Brian Leber; Peter R E Johnson; Anthony Macheta; John A L Yin; Michael J Barnett; T Andrew Lister; Jude Fitzgibbon
Journal:  Blood       Date:  2008-08-21       Impact factor: 22.113
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  2 in total

1.  Supplemental Human Genetics Point of View.

Authors:  Tim Ripperger; Thomas Illig; Brigitte Schlegelberger
Journal:  Dtsch Arztebl Int       Date:  2019-04-05       Impact factor: 5.594

Review 2.  Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies.

Authors:  Brigitte Schlegelberger; Cristina Mecucci; Marcin Wlodarski
Journal:  Fam Cancer       Date:  2021-05-31       Impact factor: 2.375
  2 in total

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