Literature DB >> 24458273

Severe congenital neutropenia: new lane for ELANE.

Niels Borregaard1.   

Abstract

In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutropenia (SCN).

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 24458273     DOI： 10.1182/blood-2013-11-537068

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  4 in total

1.  Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review.

Authors:  Yue Jia; Changjun Yue; Kathryn Bradford; Xin Qing; Eduard H Panosyan; Moran Gotesman
Journal:  J Pediatr Genet       Date:  2019-11-18

Review 2.  The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Authors:  Vahagn Makaryan; Cornelia Zeidler; Audrey Anna Bolyard; Julia Skokowa; Elin Rodger; Merideth L Kelley; Laurence A Boxer; Mary Ann Bonilla; Peter E Newburger; Akiko Shimamura; Bin Zhu; Philip S Rosenberg; Daniel C Link; Karl Welte; David C Dale
Journal:  Curr Opin Hematol       Date:  2015-01       Impact factor: 3.284

3.  Management of tooth extraction in a patient with ELANE gene mutation-induced cyclic neutropenia: A case report.

Authors:  Keiko Aota; Koichi Kani; Tomoko Yamanoi; Yukihiro Momota; Masami Ninomiya; Hiromichi Yumoto; Masayuki Azuma
Journal:  Medicine (Baltimore)       Date:  2019-09       Impact factor: 1.817

4.  Clinical, Laboratory, and Molecular Characteristics and Remission Status in Children With Severe Congenital and Non-congenital Neutropenia.

Authors:  Ruo-Lan Gong; Jing Wu; Tong-Xin Chen
Journal:  Front Pediatr       Date:  2018-10-16       Impact factor: 3.418
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.