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List of works by Jacqueline Boultwood

5q- syndrome

scientific article published on January 2012

A new recurrent translocation, t(5;11)(q35;p15.5), associated with del(5q) in childhood acute myeloid leukemia. The UK Cancer Cytogenetics Group (UKCCG)

scientific article published on July 1999

A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia

scientific article published in August 2001

A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome

scientific article

ASXL1 mutations are associated with distinct epigenomic alterations that lead to sensitivity to venetoclax and azacytidine

scientific article published on 21 September 2021

Aberrant epigenetic and genetic marks are seen in myelodysplastic leukocytes and reveal Dock4 as a candidate pathogenic gene on chromosome 7q

scientific article

Aberrant overexpression of CD14 on granulocytes sensitizes the innate immune response in mDia1 heterozygous del(5q) MDS.

scientific article

Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies

scientific article published on 13 September 2012

Activation of the mTOR signaling pathway by L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts

scientific article published on 22 January 2013

Advances in the 5q- syndrome

scientific article published on 23 August 2010

Allelic loss of IRF1 in myelodysplasia and acute myeloid leukemia: retention of IRF1 on the 5q- chromosome in some patients with the 5q- syndrome

scientific article published on 01 November 1993

Amplification of mitochondrial DNA in acute myeloid leukaemia

scientific article published on 01 November 1996

Application of CRISPR/Cas9 genome editing to the study and treatment of disease

scientific article published on April 2015

Application of genome editing technologies to the study and treatment of hematological disease

scientific article published on 26 September 2015

BRAC2 gene deletion is rare in chronic lymphocytic leukemia

article

CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q).

scientific article

CUX1 in leukemia: dosage matters ⬇️

scientific article published on 01 February 2013

Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia.

scientific article

Chromosomal deletions in myelodysplasia

scientific article published on March 1995

Chromosomal localization of murine interleukin-1 alpha and beta genes

scientific article published on October 1989

Clinical and biological implications of driver mutations in myelodysplastic syndromes

scientific article published on 12 September 2013

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

scientific article

Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression

scientific article published on October 2009

Clonality of cell populations in refractory anaemia using combined approach of gene loss and X-linked restriction fragment length polymorphism-methylation analyses

article

Combined immunophenotyping and FISH identifies the involvement of B-cells in 5q- syndrome

scientific article published on 01 November 2000

Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes

scientific article

Del (9q) AML: clinical and cytological characteristics and prognostic implications

scientific article published in April 2005

Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia

scientific article

Deregulated gene expression pathways in myelodysplastic syndrome hematopoietic stem cells

scientific article published on 11 March 2010

Detection of elevated levels of tumour-associated microRNAs in serum of patients with diffuse large B-cell lymphoma

scientific article (publication date: May 2008)

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

scientific article published on 27 November 2014

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

scientific article published in August 2015

Downregulation of Protection of Telomeres 1 expression in myelodysplastic syndromes with 7q deletion

scientific article published on 24 June 2015

Effects of L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts.

scientific article published on 20 March 2012

Expression of microRNAs in diffuse large B cell lymphoma is associated with immunophenotype, survival and transformation from follicular lymphoma

scientific article

Expression profiling of persistent polyclonal B-cell lymphocytosis suggests constitutive expression of the AP-1 transcription complex and downregulation of Fas-apoptotic and TGFβ signalling pathways

scientific article published on 28 August 2008

Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

article

Gene expression and risk of leukemic transformation in myelodysplasia

scientific article

Gene expression profiles of CD34+ cells in myelodysplastic syndromes: involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype.

scientific article

Gene expression profiling in MDS and AML: potential and future avenues.

scientific article published on 29 March 2011

Gene expression profiling in polycythemia vera using cDNA microarray technology.

scientific article

Gene expression profiling in the myelodysplastic syndromes

scientific article

Gene expression profiling in the myelodysplastic syndromes using cDNA microarray technology

article

Gene expression profiling of CD34+cells in patients with the 5q− syndrome

article

Gene expression profiling of erythroblasts from refractory anaemia with ring sideroblasts (RARS) and effects of G-CSF.

scientific article published on 12 April 2010

Gene silencing by DNA methylation in haematological malignancies

scientific article published on 9 May 2007

Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays

scientific article published on 27 May 2008

Genomic imbalances are confined to non-proliferating cells in paediatric patients with acute myeloid leukaemia and a normal or incomplete karyotype

scientific article

Glutathione S-transferase gene deletions in myelodysplasia

article

HOMOZYGOUS DELETION OF FMS IN A PATIENT WITH THE 5q— SYNDROME

scientific article published on 01 October 1990

Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes

scientific article published on 8 May 2008

Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome

scientific article published on January 2012

Hematological features of patients with myelodysplastic syndromes associated with a chromosome 5q deletion

scientific article published on 01 July 1995

High and low, but not intermediate, PRAME expression levels are poor prognostic markers in myelodysplastic syndrome at disease presentation

scientific article published on 18 April 2013

High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression

article

High-mobility group A (HMGA) genes: from solid to liquid tumours?

article

IL8-CXCR2 pathway inhibition as a therapeutic strategy against MDS and AML stem cells

scientific article published on 25 March 2015

IN-SITU ANALYSIS OF CALCITONIN AND CGRP EXPRESSION IN MEDULLARY THYROID CARCINOMA

scientific article published on 01 September 1990

Identification of Gene Expression–Based Prognostic Markers in the Hematopoietic Stem Cells of Patients With Myelodysplastic Syndromes

article

Identification of a BRCA1-mRNA splicing complex required for efficient DNA repair and maintenance of genomic stability

scientific article

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the α-thalassemia myelodysplasia syndrome (ATMDS)

article

Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes

scientific article published on 03 August 2020

Induction of p53 and up-regulation of the p53 pathway in the human 5q- syndrome

scientific article published on 01 April 2010

Inhibition of the TGF-beta receptor I kinase promotes hematopoiesis in MDS.

scientific article published on 12 May 2008

Integrative Genomics Identifies the Molecular Basis of Resistance to Azacitidine Therapy in Myelodysplastic Syndromes

scientific article

Interleukin-1 Beta Gene Deregulation Associated With Chromosomal Rearrangement: A Candidate Initiating Event for Murine Radiation-Myeloid Leukemogenesis?

article

Lenalidomide inhibits the malignant clone and up-regulates the SPARC gene mapping to the commonly deleted region in 5q- syndrome patients

scholarly article

Loss of both CSF1R (FMS) alleles in patients with myelodysplasia and a chromosome 5 deletion

scientific article

Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis

scientific article

Low expression of the putative tumour suppressor gene gravin in chronic myeloid leukaemia, myelodysplastic syndromes and acute myeloid leukaemia

scientific article

Marked down-regulation of nucleophosmin-1 is associated with advanced del(5q) myelodysplastic syndrome

scientific article published on 15 April 2011

Marked downregulation of the granulopoiesis regulator LEF1 is associated with disease progression in the myelodysplastic syndromes

scientific article

Meta-analysis of microarray studies reveals a novel hematopoietic progenitor cell signature and demonstrates feasibility of inter-platform data integration

scientific article published on 13 August 2008

MicroRNA expression distinguishes between germinal center B cell-like and activated B cell-like subtypes of diffuse large B cell lymphoma

scientific article published on September 2007

MicroRNA expression in Sezary syndrome: identification, function, and diagnostic potential

scientific article

MicroRNA expression in chronic lymphocytic leukaemia

scientific article published on 13 August 2009

MicroRNA expression in lymphocyte development and malignancy

article

MicroRNA expression in multiple myeloma is associated with genetic subtype, isotype and survival

scientific article

Molecular Diagnosis of the 5q Deletion in Malignant Myeloid Disorders

scientific article published on 01 January 1996

Molecular Mapping of Uncharacteristically Small 5q Deletions in Two Patients with the 5q- Syndrome: Delineation of the Critical Region on 5q and Identification of a 5q- Breakpoint

scientific article published on 01 February 1994

Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis

scientific article published on 19 August 2009

Molecular characterization of the 7q deletion in myeloid disorders

scientific article published on 01 April 1996

Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome

scientific article published in July 1998

Mutation analysis of the SPARC gene in the 5q-syndrome

article

Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics

scientific article

Mutations in PTPN11 are rare in adult myelodysplastic syndromes and acute myeloid leukemia

scientific article

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

scientific article published on 24 July 2013

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic disorders with hemizygous M-CSF receptor gene loss do not show point mutations of codon 969 within the remaining allele

article

Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo

scientific article published on 15 May 2014

N-myc expression in neoplasia of human thyroid C-cells

scientific article published on July 1988

NPM-ALK gene fusion and Hodgkin's disease

article

NRAS, FLT3 and TP53 mutations in patients with myelodysplastic syndrome and a del(5q)

scientific article published on 01 July 2004

Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome

scientific article published on 01 June 2002

Novel genes mapping to the critical region of the 5q- syndrome.

scientific article published on October 1997

Novel translocations that disrupt the platelet-derived growth factor receptor beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders.

scientific article published in January 2003

Overexpression of IL-1 receptor accessory protein in stem and progenitor cells and outcome correlation in AML and MDS.

scientific article

PAK1 is a therapeutic target in acute myeloid leukemia and myelodysplastic syndrome

scientific article

PRACTICAL CONSIDERATIONS IN THE ANALYSIS OF CHROMOSOMAL DELETION BREAKPOINTS BY PULSED FIELD GEL ELECTROPHORESIS

scientific article published on 01 January 1991

PRPF8 defects cause missplicing in myeloid malignancies.

scientific article

Physical mapping of the human

Physical mapping of the human genome by pulsed field gel electrophoresis

scientific article published on January 1994

Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations

scientific article published on 24 November 2016

Pulsed field gel electrophoresis on frozen tumour tissue sections

scientific article published on August 1992

Pulsed field gel electrophoresis on single murine hemopoietic colonies

scientific article published on 01 October 1993

Radiation-induced chromosome 2 rearrangement and initiation of murine acute myeloid leukemia

scientific article published on 01 March 1990

Recent Advances in the 5q- Syndrome

scientific article published on 20 May 2015

Recurrent ETNK1 mutations in atypical chronic myeloid leukemia.

scientific article published on 24 October 2014

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia

scientific article

Reduced SMAD7 leads to overactivation of TGF-beta signaling in MDS that can be reversed by a specific inhibitor of TGF-beta receptor I kinase

scientific article published on 28 December 2010

Reduced translation of GATA1 in Diamond-Blackfan anemia

scientific article published on 01 July 2014

SF3B1 mutations induce R-loop accumulation and DNA damage in MDS and leukemia cells with therapeutic implications

scientific article published on 19 February 2020

SF3B1-mutant myelodysplastic syndrome as a distinct disease subtype - A Proposal of the International Working Group for the Prognosis of Myelodysplastic Syndromes (IWG-PM)

scientific article published on 29 April 2020

Silencing of ASXL1 impairs the granulomonocytic lineage potential of human CD34⁺ progenitor cells

scientific article

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

scientific article

Stem and progenitor cells in myelodysplastic syndromes show aberrant stage-specific expansion and harbor genetic and epigenetic alterations

scientific article

Structural DNA analysis from a single hair root by standard or pulsed field gel electrophoresis

scientific article published on August 1990

Structure of the granulocyte macrophage colony-stimulating factor gene in patients with the myelodysplastic syndromes

article

TET2 mutations are associated with specific 5-methylcytosine and 5-hydroxymethylcytosine profiles in patients with chronic myelomonocytic leukemia

scientific article

TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups

scientific article published on 11 January 2019

TP53 suppression promotes erythropoiesis in del(5q) MDS, suggesting a targeted therapeutic strategy in lenalidomide-resistant patients

scientific article published on 16 September 2013

Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes

scientific article published on 05 July 2013

Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.

scientific article published on 20 May 2015

Telomere length in myelodysplastic syndromes

scientific article published on 01 December 1997

Telomere length shortening in chronic myelogenous leukemia is associated with reduced time to accelerated phase

scientific article

Telomere length shortening is associated with disease evolution in chronic myelogenous leukemia

scientific article published in May 1999

The 5q- syndrome

scientific article published in August 2004

The 5q-syndrome.

scientific article

The Role of Haploinsufficiency of rps14 and p53 Activation in the Molecular Pathogenesis of the 5q- Syndrome ⬇️

scientific article published on June 22, 2011

The human POP2 gene: identification, sequencing, and mapping to the critical region of the 5q- syndrome

scientific article

The molecular pathogenesis of the myelodysplastic syndromes

scientific article

The role of splicing factor mutations in the pathogenesis of the myelodysplastic syndromes

scientific article published on 15 September 2013

The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts

scientific article

The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts

scientific article published on 16 October 2012

Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs

scientific article

U2AF1 mutations induce oncogenic IRAK4 isoforms and activate innate immune pathways in myeloid malignancies

scientific article published on 22 April 2019

Whole-exome sequencing in del(5q) myelodysplastic syndromes in transformation to acute myeloid leukemia

scientific article published on 24 December 2013

hTERT, the catalytic component of telomerase, is downregulated in the haematopoietic stem cells of patients with chronic myeloid leukaemia

scientific article published in April 2006

miR-21 mediates hematopoietic suppression in MDS by activating TGF-β signaling

scientific article published on 6 February 2013

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