Literature DB >> 29439187

Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3' MECOM.

Lars T van der Veken1, Merel C Maiburg1, Floris Groenendaal2, Mariëlle E van Gijn1, Andries C Bloem3, Claudia Erpelinck4, Stefan Gröschel4, Mathijs A Sanders4, Ruud Delwel4, Marc B Bierings5, Arjan Buijs6.   

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Year:  2018        PMID： 29439187      PMCID： PMC5865425          DOI： 10.3324/haematol.2017.185033

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  10 in total

1.  The Evi1 proto-oncogene is required at midgestation for neural, heart, and paraxial mesenchyme development.

Authors:  P R Hoyt; C Bartholomew; A J Davis; K Yutzey; L W Gamer; S S Potter; J N Ihle; M L Mucenski
Journal:  Mech Dev       Date:  1997-07       Impact factor: 1.882

2.  A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.

Authors:  Olivier Bluteau; Marie Sebert; Thierry Leblanc; Régis Peffault de Latour; Samuel Quentin; Elodie Lainey; Lucie Hernandez; Jean-Hugues Dalle; Flore Sicre de Fontbrune; Etienne Lengline; Raphael Itzykson; Emmanuelle Clappier; Nicolas Boissel; Nadia Vasquez; Mélanie Da Costa; Julien Masliah-Planchon; Wendy Cuccuini; Anna Raimbault; Louis De Jaegere; Lionel Adès; Pierre Fenaux; Sébastien Maury; Claudine Schmitt; Marc Muller; Carine Domenech; Nicolas Blin; Bénédicte Bruno; Isabelle Pellier; Mathilde Hunault; Stéphane Blanche; Arnaud Petit; Guy Leverger; Gérard Michel; Yves Bertrand; André Baruchel; Gérard Socié; Jean Soulier
Journal:  Blood       Date:  2017-11-16       Impact factor: 22.113

3.  Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia.

Authors:  Maartje Nielsen; Clementien L Vermont; Emmelien Aten; Claudia A L Ruivenkamp; Femke van Herrewegen; Gijs W E Santen; Martijn H Breuning
Journal:  J Med Genet       Date:  2012-09       Impact factor: 6.318

4.  MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.

Authors:  Tim Ripperger; Winfried Hofmann; Jan C Koch; Katayoon Shirneshan; Detlef Haase; Gerald Wulf; Peter R Issing; Matthias Karnebogen; Gunnar Schmidt; Bernd Auber; Brigitte Schlegelberger; Thomas Illig; Birgit Zirn; Doris Steinemann
Journal:  Haematologica       Date:  2017-11-02       Impact factor: 9.941

5.  Oligomerization of Evi-1 regulated by the PR domain contributes to recruitment of corepressor CtBP.

Authors:  Eriko Nitta; Koji Izutsu; Yuko Yamaguchi; Yoichi Imai; Seishi Ogawa; Shigeru Chiba; Mineo Kurokawa; Hisamaru Hirai
Journal:  Oncogene       Date:  2005-09-08       Impact factor: 9.867

6.  Evi-1 is a critical regulator for hematopoietic stem cells and transformed leukemic cells.

Authors:  Susumu Goyama; Go Yamamoto; Munetake Shimabe; Tomohiko Sato; Motoshi Ichikawa; Seishi Ogawa; Shigeru Chiba; Mineo Kurokawa
Journal:  Cell Stem Cell       Date:  2008-08-07       Impact factor: 24.633

7.  Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.

Authors:  Tetsuya Niihori; Meri Ouchi-Uchiyama; Yoji Sasahara; Takashi Kaneko; Yoshiko Hashii; Masahiro Irie; Atsushi Sato; Yuka Saito-Nanjo; Ryo Funayama; Takeshi Nagashima; Shin-Ichi Inoue; Keiko Nakayama; Keiichi Ozono; Shigeo Kure; Yoichi Matsubara; Masue Imaizumi; Yoko Aoki
Journal:  Am J Hum Genet       Date:  2015-11-12       Impact factor: 11.025

8.  Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.

Authors:  Arjan Bouman; Lia Knegt; Stefan Gröschel; Claudia Erpelinck; Mathijs Sanders; Ruud Delwel; Taco Kuijpers; Jan Maarten Cobben
Journal:  Am J Med Genet A       Date:  2015-11-10       Impact factor: 2.802

9.  Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media.

Authors:  Nicholas Parkinson; Rachel E Hardisty-Hughes; Hilda Tateossian; Hsun-Tien Tsai; Debra Brooker; Sue Morse; Zuzanna Lalane; Francesca MacKenzie; Martin Fray; Pete Glenister; Anne-Marie Woodward; Sian Polley; Ivana Barbaric; Neil Dear; Tertius A Hough; A Jackie Hunter; Michael T Cheeseman; Steve D M Brown
Journal:  PLoS Genet       Date:  2006-10-06       Impact factor: 5.917

10.  A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia.

Authors:  Stefan Gröschel; Mathijs A Sanders; Remco Hoogenboezem; Elzo de Wit; Britta A M Bouwman; Claudia Erpelinck; Vincent H J van der Velden; Marije Havermans; Roberto Avellino; Kirsten van Lom; Elwin J Rombouts; Mark van Duin; Konstanze Döhner; H Berna Beverloo; James E Bradner; Hartmut Döhner; Bob Löwenberg; Peter J M Valk; Eric M J Bindels; Wouter de Laat; Ruud Delwel
Journal:  Cell       Date:  2014-04-03       Impact factor: 41.582
  10 in total

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