List of works - Marshall Horwitz

A family inheriting different subtypes of acute myelogenous leukemia

scientific article published on 01 August 1996

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia

scientific article

A phylogenetic approach to mapping cell fate

scientific article

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

scientific article

Activating PAX gene family paralogs to complement PAX5 leukemia driver mutations

article

Assessment of hypoxia inducible factor levels in cancer cell lines upon hypoxic induction using a novel reporter construct

scientific article

CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients

scientific article published on 01 October 1998

Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia

scientific article published on 13 February 2015

Chromosome band 16q22-linked familial AML: exclusion of candidate genes, and possible disease risk modification by NQO1 polymorphisms

scientific article published in November 2004

Clonal expansions and short telomeres are associated with neoplasia in early-onset, but not late-onset, ulcerative colitis

scientific article

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

scientific article published in September 2007

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology

scientific article published on 7 November 2012

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5

scientific article

GATA factor mutations in hematologic disease

scientific article

GATA2 deficiency and related myeloid neoplasms

scientific article

GATA2 deficiency: flesh and blood.

scientific article published in February 2014

Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course

scientific article

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

scientific article

Gfi1 coordinates epigenetic repression of p21Cip/WAF1 by recruitment of histone lysine methyltransferase G9a and histone deacetylase 1

scientific article

HIF induces human embryonic stem cell markers in cancer cells.

scientific article

HIF1α induced switch from bivalent to exclusively glycolytic metabolism during ESC-to-EpiSC/hESC transition ⬇️

scientific article published on March 23, 2012

Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature

scientific article

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

scientific article

Hypermethylated myoblasts specifically deficient in MyoD autoactivation as a consequence of instability of MyoD.

scientific article published on July 1996

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

scientific article

Integrative analysis of RUNX1 downstream pathways and target genes

scientific article

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation

scientific article published on 01 September 1999

Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy.

scientific article published on January 2003

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

scientific article published on 6 December 2011

Low levels of serum elastase are not associated with mutations in ELA-2 elastase encoding gene in chronic idiopathic neutropenia

scientific article published on 01 April 2003

Lymphadenopathy as the primary manifestation of malignant transformation in two patients with severe congenital neutropenia.

scientific article

Lymphoid Enhancer Factor-1 Links Two Hereditary Leukemia Syndromes through Core-binding Factor α Regulation of ELA2 ⬇️

scientific article published on October 31, 2003

Mechanisms and clinical applications of chromosomal instability in lymphoid malignancy

scientific article published on 26 May 2015

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

scientific article published on 01 November 2002

Mitotic errors, aneuploidy and micronuclei in Hodgkin lymphoma pathogenesis.

scientific article

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

scientific article

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

scientific article

Mutations in growth factor independent-1 associated with human neutropenia block murine granulopoiesis through colony stimulating factor-1.

scientific article published on 6 March 2008

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

scientific article

Neutropenia in 6 ethnic groups from the Caribbean and the U.S.

scientific article

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

scientific article

Neutrophil Elastase, Proteinase 3, and Cathepsin G as Therapeutic Targets in Human Diseases ⬇️

scientific article published on December 1, 2010

No evidence for core-binding factor CBFbeta as a leukemia predisposing factor in chromosome 16q22-linked familial AML.

scientific article published in April 2004

Normal peripheral blood neutrophil numbers accompanying ELANE whole gene deletion mutation

scientific article published on 01 August 2019

Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia.

scientific article published on December 2004

Passenger mutations as a marker of clonal cell lineages in emerging neoplasia

scientific article

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells

scientific article

Phylogenetic analysis of developmental and postnatal mouse cell lineages.

scientific article published on January 2010

Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes

scientific article published on 29 April 2010

Prolonged pharmacological inhibition of cathepsin C results in elimination of neutrophil serine proteases.

scientific article published on 11 February 2017

Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis

scientific article (publication date: 2003)

Support for the N -Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

article

Target protein interactions of indole-3-carbinol and the highly potent derivative 1-benzyl-I3C with the C-terminal domain of human elastase uncouples cell cycle arrest from apoptotic signaling

scientific article

Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects

scientific article

Targeted transcriptional repression of Gfi1 by GFI1 and GFI1B in lymphoid cells

scientific article

Targets of the transcriptional repressor oncoprotein Gfi-1 ⬇️

scientific article published on April 29, 2003

The Clinical, Immunohematological, and Molecular Study of Iranian Patients with Severe Congenital Neutropenia

scientific article published on 21 June 2007

The Kelch Protein KLHDC8B Guards against Mitotic Errors, Centrosomal Amplification, and Chromosomal Instability ⬇️

scientific article published on September 17, 2012

The association of thymidine kinase activity and thymidine transport in Escherichia coli.

scientific article published in March 1991

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

scientific article

Whole-organism lineage tracing by combinatorial and cumulative genome editing

scientific article

List of works by Marshall Horwitz

A family inheriting different subtypes of acute myelogenous leukemia

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia

A phylogenetic approach to mapping cell fate

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Activating PAX gene family paralogs to complement PAX5 leukemia driver mutations

Assessment of hypoxia inducible factor levels in cancer cell lines upon hypoxic induction using a novel reporter construct

CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients

Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia

Chromosome band 16q22-linked familial AML: exclusion of candidate genes, and possible disease risk modification by NQO1 polymorphisms

Clonal expansions and short telomeres are associated with neoplasia in early-onset, but not late-onset, ulcerative colitis

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

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5

GATA factor mutations in hematologic disease

GATA2 deficiency and related myeloid neoplasms

GATA2 deficiency: flesh and blood.

Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Gfi1 coordinates epigenetic repression of p21Cip/WAF1 by recruitment of histone lysine methyltransferase G9a and histone deacetylase 1

HIF induces human embryonic stem cell markers in cancer cells.

HIF1α induced switch from bivalent to exclusively glycolytic metabolism during ESC-to-EpiSC/hESC transition ⬇️

Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

Hypermethylated myoblasts specifically deficient in MyoD autoactivation as a consequence of instability of MyoD.

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

Integrative analysis of RUNX1 downstream pathways and target genes

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation

Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy.

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Low levels of serum elastase are not associated with mutations in ELA-2 elastase encoding gene in chronic idiopathic neutropenia

Lymphadenopathy as the primary manifestation of malignant transformation in two patients with severe congenital neutropenia.

Lymphoid Enhancer Factor-1 Links Two Hereditary Leukemia Syndromes through Core-binding Factor α Regulation of ELA2 ⬇️

Mechanisms and clinical applications of chromosomal instability in lymphoid malignancy

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

Mitotic errors, aneuploidy and micronuclei in Hodgkin lymphoma pathogenesis.

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

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

Mutations in growth factor independent-1 associated with human neutropenia block murine granulopoiesis through colony stimulating factor-1.

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

Neutropenia in 6 ethnic groups from the Caribbean and the U.S.

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

Neutrophil Elastase, Proteinase 3, and Cathepsin G as Therapeutic Targets in Human Diseases ⬇️

No evidence for core-binding factor CBFbeta as a leukemia predisposing factor in chromosome 16q22-linked familial AML.

Normal peripheral blood neutrophil numbers accompanying ELANE whole gene deletion mutation

Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia.

Passenger mutations as a marker of clonal cell lineages in emerging neoplasia

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells

Phylogenetic analysis of developmental and postnatal mouse cell lineages.

Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes

Prolonged pharmacological inhibition of cathepsin C results in elimination of neutrophil serine proteases.

Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis

Support for the N -Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

Target protein interactions of indole-3-carbinol and the highly potent derivative 1-benzyl-I3C with the C-terminal domain of human elastase uncouples cell cycle arrest from apoptotic signaling

Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects

Targeted transcriptional repression of Gfi1 by GFI1 and GFI1B in lymphoid cells

Targets of the transcriptional repressor oncoprotein Gfi-1 ⬇️

The Clinical, Immunohematological, and Molecular Study of Iranian Patients with Severe Congenital Neutropenia

The Kelch Protein KLHDC8B Guards against Mitotic Errors, Centrosomal Amplification, and Chromosomal Instability ⬇️

The association of thymidine kinase activity and thymidine transport in Escherichia coli.

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

Whole-organism lineage tracing by combinatorial and cumulative genome editing