Lista de obras - Marshall Horwitz - Dominio Público Uruguay

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

artículo científico publicado en 2004

A phylogenetic approach to mapping cell fate

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 1998

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

GATA factor mutations in hematologic disease

artículo científico publicado en 2017

GATA2 deficiency and related myeloid neoplasms

artículo científico publicado en 2017

GATA2 deficiency: flesh and blood.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

artículo científico publicado en 2015

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

artículo científico publicado en 2005

HIF induces human embryonic stem cell markers in cancer cells.

artículo científico publicado en 2011

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

artículo científico publicado el 23 de marzo de 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2002

Integrative analysis of RUNX1 downstream pathways and target genes

artículo científico publicado en 2008

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.

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado el 31 de octubre de 2003

Mechanisms and clinical applications of chromosomal instability in lymphoid malignancy

artículo científico

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

artículo científico publicado en 2002

Mitotic errors, aneuploidy and micronuclei in Hodgkin lymphoma pathogenesis.

artículo científico publicado en 2013

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

artículo científico publicado en 2003

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

artículo científico publicado en 1999

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado el 1 de diciembre de 2010

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

artículo científico publicado en 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.

artículo científico publicado en 2004

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Phylogenetic analysis of developmental and postnatal mouse cell lineages.

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

Targets of the transcriptional repressor oncoprotein Gfi-1 ⬇️

artículo científico publicado el 29 de abril de 2003

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

artículo científico publicado en 2007

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

artículo científico publicado el 17 de septiembre de 2012

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

artículo científico publicado en 1991

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

artículo científico publicado en 2002

Whole-organism lineage tracing by combinatorial and cumulative genome editing

artículo científico publicado en 2016

Lista de obras de 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