JEŽÍŠKOVÁ, Ivana, Lukas SEMERAD, Dana DVOŘÁKOVÁ, Veronika JANEČKOVÁ, Martin ČULEN, Tamara KUNETKOVÁ, Jiří MAYER and Zdeněk RÁČIL. Novel complex mutation in NPM1 gene in patient with acute myeloid leukemia. Leukemia & Lymphoma, Abingdon: Taylor & Francis LTD, 2017, vol. 58, No 3, p. 746-748. ISSN 1042-8194. doi:10.1080/10428194.2016.1213832.
Other formats:   BibTeX LaTeX RIS
Basic information
Original name Novel complex mutation in NPM1 gene in patient with acute myeloid leukemia
Name in Czech Nový komplex mutace v genu NPM1 u pacientů s akutní myeloidní leukémií
Authors JEŽÍŠKOVÁ, Ivana (203 Czechia, guarantor, belonging to the institution), Lukas SEMERAD (203 Czechia), Dana DVOŘÁKOVÁ (203 Czechia, belonging to the institution), Veronika JANEČKOVÁ (203 Czechia, belonging to the institution), Martin ČULEN (703 Slovakia, belonging to the institution), Tamara KUNETKOVÁ (203 Czechia, belonging to the institution), Jiří MAYER (203 Czechia, belonging to the institution) and Zdeněk RÁČIL (203 Czechia, belonging to the institution).
Edition Leukemia & Lymphoma, Abingdon, Taylor & Francis LTD, 2017, 1042-8194.
Other information
Original language English
Type of outcome article in a journal
Field of Study 30204 Oncology
Country of publisher United Kingdom of Great Britain and Northern Ireland
Confidentiality degree is not subject to a state or trade secret
WWW Full Text
Impact factor Impact factor: 2.644
RIV identification code RIV/00216224:14110/17:00095625
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1080/10428194.2016.1213832
UT WoS 000393891300035
Keywords in English NUCLEOPHOSMIN; AML
Tags EL OK, podil, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Marie Šípková, DiS., učo 437722. Changed: 3. 1. 2020 11:49.
Abstract
Somatic heterozygous mutations of the nucleophosmin gene (NPM1) are the most frequent mutations in acute myeloid leukemia (AML) patients. Mutations occur in approximately one-third of all adult patients with AML and in one half of cytogenetically normal AML patients (CN-AML). Mutations are mostly insertions that cluster within exon 11 – at the level of transcript (Ensembl transcript ref ENST00000296930, 1758 base pairs [bp]) it means within exon 12 – at the level of genomic DNA (Ensembl gene ref ENSG00000181163, NCBI Gene ref 4869 related to the Ensembl transcript ref ENST00000517671, 1338 bp). Frame shift mutations of the NPM1 gene cause the elongation of nucleophosmin phosphoprotein and its aberrant cytoplasmic expression.
Abstract (in Czech)
Nový komplex mutace v genu NPM1 u pacientů s akutní myeloidní leukémií, Nový komplex mutace v genu NPM1 u pacientů s akutní myeloidní leukémií, Nový komplex mutace v genu NPM1 u pacientů s akutní myeloidní leukémií
Links
LQ1601, research and development projectName: CEITEC 2020 (Acronym: CEITEC2020)
Investor: Ministry of Education, Youth and Sports of the CR, National Feasibility Programme II
MUNI/A/1028/2015, internal MU codeName: Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit III (Acronym: VýDiTeHeMa III)
Investor: Masaryk University, Grant Agency of Masaryk University, Category A
NV15-25809A, research and development projectName: Národní program studia mutací a klonality leukemických buněk u pacientů s akutní myeloidní leukémií
ROZV/20/LF/2015, internal MU codeName: LF - Příspěvek IP 2015
Investor: Ministry of Education, Youth and Sports of the CR, Development Programmes
Type Name Uploaded/Created by Uploaded/Created Rights
EL_1363880.pdf  Pospíšilíková, V. 16. 12. 2016

Rights

Right to read
  • a concrete person Mgr. Eva Špillingová, učo 110713
  • a concrete person Bc. Kateřina Kolesová, učo 112275
  • a concrete person Soňa Böhmová, učo 232884
Right to upload
 
Right to administer:
  • a concrete person Mgr. Marie Šípková, DiS., učo 437722
Attributes
 
Print
Ask the author for author copy Displayed: 4. 7. 2020 11:45