Literature DB >> 19118300

The many causes of severe congenital neutropenia.

David C Dale1, Daniel C Link.   

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Year:  2009        PMID： 19118300      PMCID： PMC4162527          DOI： 10.1056/NEJMp0806821

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

1.  HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

Authors:  Christoph Klein; Magda Grudzien; Giridharan Appaswamy; Manuela Germeshausen; Inga Sandrock; Alejandro A Schäffer; Chozhavendan Rathinam; Kaan Boztug; Beate Schwinzer; Nima Rezaei; Georg Bohn; Malin Melin; Göran Carlsson; Bengt Fadeel; Niklas Dahl; Jan Palmblad; Jan-Inge Henter; Cornelia Zeidler; Bodo Grimbacher; Karl Welte
Journal:  Nat Genet       Date:  2006-12-24       Impact factor: 38.330

2.  Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.

Authors:  D C Dale; R E Person; A A Bolyard; A G Aprikyan; C Bos; M A Bonilla; L A Boxer; G Kannourakis; C Zeidler; K Welte; K F Benson; M Horwitz
Journal:  Blood       Date:  2000-10-01       Impact factor: 22.113

3.  Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.

Authors:  David S Grenda; Mark Murakami; Jhuma Ghatak; Jun Xia; Laurence A Boxer; David Dale; Mary C Dinauer; Daniel C Link
Journal:  Blood       Date:  2007-08-30       Impact factor: 22.113

4.  Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

Authors:  Philip S Rosenberg; Blanche P Alter; Daniel C Link; Steven Stein; Elin Rodger; Audrey A Bolyard; Andrew A Aprikyan; Mary A Bonilla; Yigal Dror; George Kannourakis; Peter E Newburger; Laurence A Boxer; David C Dale
Journal:  Br J Haematol       Date:  2007-11-20       Impact factor: 6.998

5.  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
  5 in total
  25 in total

1.  Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy.

Authors:  Philip S Rosenberg; Cornelia Zeidler; Audrey A Bolyard; Blanche P Alter; Mary A Bonilla; Laurence A Boxer; Yigal Dror; Sally Kinsey; Daniel C Link; Peter E Newburger; Akiko Shimamura; Karl Welte; David C Dale
Journal:  Br J Haematol       Date:  2010-04-29       Impact factor: 6.998

2.  Case 2: Where have all the white cells gone?

Authors:  Ryan Nelson; Michele Cho; Eyal Ben-Isaac
Journal:  Paediatr Child Health       Date:  2010-11       Impact factor: 2.253

3.  Registries for study of nonmalignant hematological diseases: the example of the Severe Chronic Neutropenia International Registry.

Authors:  David C Dale; Audrey Anna Bolyard; Laurie A Steele; Cornelia Zeidler; Karl Welte
Journal:  Curr Opin Hematol       Date:  2020-01       Impact factor: 3.284

4.  Severe congenital neutropenia and chronic neutrophilic leukemia: an intriguing molecular connection unveiled by oncogenic mutations in CSF3R.

Authors:  Ivo P Touw; Renée Beekman
Journal:  Haematologica       Date:  2013-10       Impact factor: 9.941

5.  Digenic mutations in severe congenital neutropenia.

Authors:  Manuela Germeshausen; Cornelia Zeidler; Manfred Stuhrmann; Marina Lanciotti; Matthias Ballmaier; Karl Welte
Journal:  Haematologica       Date:  2010-03-10       Impact factor: 9.941

6.  Prevalence of a new auto-activating colony stimulating factor 3 receptor mutation (CSF3R-T595I) in acute myeloid leukemia and severe congenital neutropenia.

Authors:  Renée Beekman; Marijke Valkhof; Paulette van Strien; Peter J M Valk; Ivo P Touw
Journal:  Haematologica       Date:  2013-03-18       Impact factor: 9.941

7.  Elastase inhibitors as potential therapies for ELANE-associated neutropenia.

Authors:  Vahagn Makaryan; Merideth L Kelley; Breanna Fletcher; Audrey Anna Bolyard; A Andrew Aprikyan; David C Dale
Journal:  J Leukoc Biol       Date:  2017-07-28       Impact factor: 4.962

8.  Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings.

Authors:  Maria Gogou; Labrini Damianidou; Theodotis Papageorgiou; Athanasios Tragiannidis; Katerina Haidopoulou; Andreas Giannopoulos; Emmanuel Hatzipantelis
Journal:  J Pediatr Genet       Date:  2018-09-15

9.  Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.

Authors:  Lisa S Westerberg; Parool Meelu; Marisa Baptista; Michelle A Eston; David A Adamovich; Vinicius Cotta-de-Almeida; Brian Seed; Michael K Rosen; Peter Vandenberghe; Adrian J Thrasher; Christoph Klein; Frederick W Alt; Scott B Snapper
Journal:  J Exp Med       Date:  2010-05-31       Impact factor: 14.307

10.  Survival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-β (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation.

Authors:  S Gautam; S Kirschnek; I E Gentle; C Kopiniok; P Henneke; H Häcker; L Malleret; A Belaaouaj; G Häcker
Journal:  Cell Death Differ       Date:  2013-05-17       Impact factor: 15.828
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