Literature DB >> 19794077

Molecular basis of congenital neutropenia.

Christoph Klein.   

Abstract

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Year:  2009        PMID： 19794077      PMCID： PMC2754945          DOI： 10.3324/haematol.2009.012260

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


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  26 in total

Review 1.  Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Authors:  J P Rake; A M ten Berge; G Visser; E Verlind; K E Niezen-Koning; C H Buys; G P Smit; H Scheffer
Journal:  Eur J Pediatr       Date:  2000-05       Impact factor: 3.183

2.  Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation.

Authors:  Hanno Hock; Melanie J Hamblen; Heather M Rooke; David Traver; Roderick T Bronson; Scott Cameron; Stuart H Orkin
Journal:  Immunity       Date:  2003-01       Impact factor: 31.745

3.  Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.

Authors:  Phil J Ancliff; Michael P Blundell; Giles O Cory; Yolanda Calle; Austen Worth; Helena Kempski; Siobhan Burns; Gareth E Jones; Jo Sinclair; Christine Kinnon; Ian M Hann; Rosemary E Gale; David C Linch; Adrian J Thrasher
Journal:  Blood       Date:  2006-06-27       Impact factor: 22.113

4.  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

5.  Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1.

Authors:  Holger Karsunky; Hui Zeng; Thorsten Schmidt; Branko Zevnik; Reinhart Kluge; Kurt Werner Schmid; Ulrich Dührsen; Tarik Möröy
Journal:  Nat Genet       Date:  2002-01-28       Impact factor: 38.330

6.  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

Review 7.  WASp in immune-system organization and function.

Authors:  Adrian J Thrasher
Journal:  Nat Rev Immunol       Date:  2002-09       Impact factor: 53.106

8.  Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.

Authors:  Richard E Person; Feng-Qian Li; Zhijun Duan; Kathleen F Benson; Jeremy Wechsler; Helen A Papadaki; George Eliopoulos; Christina Kaufman; Salvatore J Bertolone; Betty Nakamoto; Thalia Papayannopoulou; H Leighton Grimes; Marshall Horwitz
Journal:  Nat Genet       Date:  2003-07       Impact factor: 38.330

9.  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

10.  Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria.

Authors:  R KOSTMANN
Journal:  Acta Paediatr Suppl       Date:  1956-02
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  4 in total

1.  Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.

Authors:  Marina Lanciotti; Stefania Indaco; Sonia Bonanomi; Tiziana Coliva; Elena Mastrodicasa; Gianluca Caridi; Michaela Calvillo; Carlo Dufour
Journal:  Haematologica       Date:  2010-01       Impact factor: 9.941

2.  Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

Authors:  Laurence Duplomb; Julie Rivière; Gaëtan Jego; Romain Da Costa; Arlette Hammann; Jessica Racine; Alain Schmitt; Nathalie Droin; Claude Capron; Marie-Anne Gougerot-Pocidalo; Laurence Dubrez; Bernard Aral; Arnaud Lafon; Patrick Edery; Jamal Ghoumid; Edward Blair; Salima El Chehadeh-Djebbar; Virginie Carmignac; Julien Thevenon; Julien Guy; François Girodon; Jean-Noël Bastie; Laurent Delva; Laurence Faivre; Christel Thauvin-Robinet; Eric Solary
Journal:  J Mol Med (Berl)       Date:  2019-03-07       Impact factor: 4.599

3.  A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities.

Authors:  Sheng-Li Xue; Jin-Li Li; Jing-Ying Zou; Jian Su; Su-Ning Chen; De-Pei Wu
Journal:  Haematologica       Date:  2011-11-18       Impact factor: 9.941

4.  Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

Authors:  Siddharth Banka; Elena Chervinsky; William G Newman; Yanick J Crow; Shay Yeganeh; Joanne Yacobovich; Dian Donnai; Stavit Shalev
Journal:  Eur J Hum Genet       Date:  2010-08-18       Impact factor: 4.246
  4 in total

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