Literature DB >> 31427279

Normal peripheral blood neutrophil numbers accompanying ELANE whole gene deletion mutation.

Marshall S Horwitz1,2, Mercy Y Laurino2, Siobán B Keel2,3.   

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Year:  2019        PMID： 31427279      PMCID： PMC6712528          DOI： 10.1182/bloodadvances.2019000498

Source DB:  PubMed          Journal:  Blood Adv        ISSN： 2473-9529


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  19 in total

Review 1.  Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.

Authors:  H L Archer; S Gupta; S Enoch; P Thompson; A Rowbottom; I Chua; S Warren; D Johnson; D H Ledbetter; C Lese-Martin; P Williams; D T Pilz
Journal:  Am J Med Genet A       Date:  2005-07-01       Impact factor: 2.802

2.  Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane.

Authors:  Suparna Nanua; Mark Murakami; Jun Xia; David S Grenda; Jill Woloszynek; Marie Strand; Daniel C Link
Journal:  Blood       Date:  2011-02-01       Impact factor: 22.113

3.  Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

Authors:  M Horwitz; K F Benson; R E Person; A G Aprikyan; D C Dale
Journal:  Nat Genet       Date:  1999-12       Impact factor: 38.330

4.  Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis.

Authors:  David S Grenda; Sonja E Johnson; Jill R Mayer; Morgan L McLemore; Kathleen F Benson; Marshall Horwitz; Daniel C Link
Journal:  Blood       Date:  2002-11-01       Impact factor: 22.113

5.  Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

Authors:  Stephen J Salipante; Kathleen F Benson; Joanna Luty; Valeh Hadavi; Roxana Kariminejad; Mohamad H Kariminejad; Nima Rezaei; Marshall S Horwitz
Journal:  Hum Mutat       Date:  2007-09       Impact factor: 4.878

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

7.  G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms.

Authors:  Marta Donini; Stefania Fontana; Gianfranco Savoldi; William Vermi; Laura Tassone; Francesca Gentili; Elena Zenaro; Daniela Ferrari; Lucia D Notarangelo; Fulvio Porta; Fabio Facchetti; Luigi D Notarangelo; Stefano Dusi; Raffaele Badolato
Journal:  Blood       Date:  2007-02-20       Impact factor: 22.113

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

Review 9.  Severe congenital neutropenia and the unfolded protein response.

Authors:  Jun Xia; Daniel C Link
Journal:  Curr Opin Hematol       Date:  2008-01       Impact factor: 3.284

10.  Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome.

Authors:  Josiane Souza; Fábio Faucz; Vanessa Sotomaior; Aguinaldo Bonalumi Filho; Jill Rosenfeld; Salmo Raskin
Journal:  Genet Mol Biol       Date:  2011-10-01       Impact factor: 1.771
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  5 in total

1.  Inducible expression of a disease-associated ELANE mutation impairs granulocytic differentiation, without eliciting an unfolded protein response.

Authors:  Bhavuk Garg; Hrishikesh M Mehta; Borwyn Wang; Ralph Kamel; Marshall S Horwitz; Seth J Corey
Journal:  J Biol Chem       Date:  2020-04-16       Impact factor: 5.157

Review 2.  Neutrophil Elastase Defects in Congenital Neutropenia.

Authors:  Zuzanna Rydzynska; Bartlomiej Pawlik; Damian Krzyzanowski; Wojciech Mlynarski; Joanna Madzio
Journal:  Front Immunol       Date:  2021-04-22       Impact factor: 7.561

3.  CRISPR-Cas9-Mediated ELANE Mutation Correction in Hematopoietic Stem and Progenitor Cells to Treat Severe Congenital Neutropenia.

Authors:  Ngoc Tung Tran; Robin Graf; Annika Wulf-Goldenberg; Maria Stecklum; Gabriele Strauß; Ralf Kühn; Christine Kocks; Klaus Rajewsky; Van Trung Chu
Journal:  Mol Ther       Date:  2020-08-08       Impact factor: 11.454

4.  Inflammatory signature in acute-on-chronic liver failure includes increased expression of granulocyte genes ELANE, MPO and CD177.

Authors:  Rohini Saha; Sai Sanwid Pradhan; Prasenjit Das; Priyanka Mishra; Rohan Singh; Venketesh Sivaramakrishnan; Pragyan Acharya
Journal:  Sci Rep       Date:  2021-09-22       Impact factor: 4.379

5.  Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia.

Authors:  Peter Sabo; Vahagn Makaryan; Yosef Dicken; Lital Povodovski; Liat Rockah; Tzlil Bar; Matan Gabay; Dalia Elinger; Ella Segal; Ora Haimov; Maya Antoshvili; Anat London Drori; Tanoya Poulsen; Asael Herman; Rafi Emmanuel; David C Dale
Journal:  Mol Ther Methods Clin Dev       Date:  2022-06-09       Impact factor: 5.849
  5 in total

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