These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 12091371)

  • 1. Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.
    Ancliff PJ; Gale RE; Watts MJ; Liesner R; Hann IM; Strobel S; Linch DC
    Blood; 2002 Jul; 100(2):707-9. PubMed ID: 12091371
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Neutrophil elastase mutations in congenital neutropenia.
    Ancliff PJ; Gale RE; Linch DC
    Hematology; 2003 Jun; 8(3):165-71. PubMed ID: 12745650
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two paternal mosaicism of mutation in ELANE causing severe congenital neutropenia exhibit normal neutrophil morphology and ROS production.
    Liu Q; Zhang L; Shu Z; Ding Y; Tang XM; Zhao XD
    Clin Immunol; 2019 Jun; 203():53-58. PubMed ID: 31009763
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
    Dale DC; Person RE; Bolyard AA; Aprikyan AG; Bos C; Bonilla MA; Boxer LA; Kannourakis G; Zeidler C; Welte K; Benson KF; Horwitz M
    Blood; 2000 Oct; 96(7):2317-22. PubMed ID: 11001877
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.
    Kim HJ; Song MJ; Lee KO; Kim SH; Kim HJ
    Pediatr Blood Cancer; 2015 Dec; 62(12):2229-31. PubMed ID: 26174650
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism.
    Ying Y; Ye J; Chen Y; Chen Q; Chen Y; Lu X; Xi H; Gu F; Pan D; Zhao J
    Clin Chim Acta; 2022 Feb; 526():14-20. PubMed ID: 34968504
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the neutrophil elastase gene in cyclic and congenital neutropenia.
    Aprikyan AA; Dale DC
    Curr Opin Immunol; 2001 Oct; 13(5):535-8. PubMed ID: 11543999
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis.
    Grenda DS; Johnson SE; Mayer JR; McLemore ML; Benson KF; Horwitz M; Link DC
    Blood; 2002 Nov; 100(9):3221-8. PubMed ID: 12384420
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.
    Wiesmeier M; Gautam S; Kirschnek S; Häcker G
    PLoS One; 2016; 11(12):e0168055. PubMed ID: 27942017
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.
    Ancliff PJ; Gale RE; Liesner R; Hann IM; Linch DC
    Blood; 2001 Nov; 98(9):2645-50. PubMed ID: 11675333
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular screening of the neutrophil elastase gene in congenital neutropenia.
    Thomas M; Jayandharan G; Chandy M
    Indian Pediatr; 2006 Dec; 43(12):1081-4. PubMed ID: 17202606
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.
    Benson KF; Li FQ; Person RE; Albani D; Duan Z; Wechsler J; Meade-White K; Williams K; Acland GM; Niemeyer G; Lothrop CD; Horwitz M
    Nat Genet; 2003 Sep; 35(1):90-6. PubMed ID: 12897784
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.
    Newburger PE; Pindyck TN; Zhu Z; Bolyard AA; Aprikyan AA; Dale DC; Smith GD; Boxer LA
    Pediatr Blood Cancer; 2010 Aug; 55(2):314-7. PubMed ID: 20582973
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of mutant neutrophil elastase in severe congenital neutropenia.
    Li FQ; Horwitz M
    J Biol Chem; 2001 Apr; 276(17):14230-41. PubMed ID: 11278653
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden.
    Carlsson G; Aprikyan AA; Ericson KG; Stein S; Makaryan V; Dale DC; Nordenskjöld M; Fadeel B; Palmblad J; Hentera JI
    Haematologica; 2006 May; 91(5):589-95. PubMed ID: 16670064
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia.
    Ward AC; Gits J; Majeed F; Aprikyan AA; Lewis RS; O'Sullivan LA; Freedman M; Shigdar S; Touw IP; Dale DC; Dror Y
    Br J Haematol; 2008 Aug; 142(4):653-6. PubMed ID: 18513286
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Neutrophil Elastase Defects in Congenital Neutropenia.
    Rydzynska Z; Pawlik B; Krzyzanowski D; Mlynarski W; Madzio J
    Front Immunol; 2021; 12():653932. PubMed ID: 33968054
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital dysgranulopoietic neutropenia.
    Olcay L; Yetgin S; Erdemli E; Germeshausen M; Aktaş D; Büyükaşik Y; Okur H
    Pediatr Blood Cancer; 2008 Jan; 50(1):115-9. PubMed ID: 16652351
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response.
    Köllner I; Sodeik B; Schreek S; Heyn H; von Neuhoff N; Germeshausen M; Zeidler C; Krüger M; Schlegelberger B; Welte K; Beger C
    Blood; 2006 Jul; 108(2):493-500. PubMed ID: 16551967
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mosaicism of an ELANE Mutation in an Asymptomatic Mother.
    Shigemura T; Kobayashi N; Agematsu K; Ohara O; Nakazawa Y
    J Clin Immunol; 2019 Jan; 39(1):106-111. PubMed ID: 30635825
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.