Research Topics
Genomes and Genes | Marshall S HorwitzSummaryAffiliation: University of Washington Country: USA Publications
Research Grants
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Detail Information
Publications
Integrative analysis of RUNX1 downstream pathways and target genesJoelle Michaud
Molecular Medicine Division, The Walter and Eliza Hall Institute of Medical Research, Parkville 3050, Victoria, Australia
BMC Genomics 9:363. 2008..We have used multiple microarray platforms and bioinformatic techniques to help identify these biological pathways to aid in the understanding of why RUNX1 mutations lead to leukemia...- Anticipation in familial leukemiaM Horwitz
Division of Medical Genetics, School of Medicine, University of Washington, Seattle 98195, USA
Am J Hum Genet 59:990-8. 1996..We speculate on three possible candidate genes for familial leukemia with anticipation: a locus on 21q22.1-22.2, CBL2 on 11q23.3, and CBFB or a nearby gene on 16q22... - Neutrophil elastase in cyclic and severe congenital neutropeniaMarshall S Horwitz
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA
Blood 109:1817-24. 2007..Nevertheless, mutations in all 3 genes are capable of causing the mislocalization of NE and may also induce the unfolded protein response, suggesting that there might a convergent pathogenic mechanism focusing on NE... - Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesisMarshall Horwitz
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle 98195, USA
Curr Opin Hematol 10:49-54. 2003..The authors propose that neutrophil elastase acts as an inhibitor of myelopoiesis, substantiating a chalone hypothesis proposed many years ago... - Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesisM Horwitz
Division of Medical Genetics, University of Washington School of Medicine, Seattle, Washington, USA
Nat Genet 23:433-6. 1999..We hypothesize that a perturbed interaction between neutrophil elastase and serpins or other substrates may regulate mechanisms governing the clock-like timing of haematopoiesis... - Pseudoautosomal linkage of Hodgkin diseaseM Horwitz
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA
Am J Hum Genet 65:1413-22. 1999..00. The resulting beta values indicate that the putative PAR- and HLA-linked loci account for 29% and 40%, respectively, of the heritability of HD in an American population... - Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2M Horwitz
Markey Molecular Medicine Center, and Department of Medicine, School of Medicine, University of Washington, Seattle 98195, USA
Am J Hum Genet 61:873-81. 1997..The "repeat expansion detection" method, capable of detecting dynamic mutation associated with anticipation, more generally excludes large CAG repeat expansion as a cause of leukemia in this family... - Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapyMarshall Horwitz
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, 1705 NE Pacific Street, HSB K236B, Seattle, WA 98195 7720, USA
Cancer Invest 21:579-87. 2003..Continued elucidation of the clinical features, molecular genetics, and biochemistry is likely to provide insight into novel pathways of leukemia induction with attendant prospects for new avenues of therapy... - Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastaseStephen J Salipante
Department of Genome Sciences, University of Washington, Box 355065, Seattle, WA 98195, USA
Mol Cell Biol 29:4394-405. 2009.... - Decoding cell lineage from acquired mutations using arbitrary deep sequencingCheryl A Carlson
Department of Pathology, University of Washington School of Medicine, Seattle, Washington, USA
Nat Methods 9:78-80. 2012..This study helps pave the way toward construction of retrospective cell-fate maps based on mutations accumulating in genomes of somatic cells... - Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5Zhijun Duan
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA
Mol Cell Biol 27:6889-902. 2007..In neutropenic patients, we identified PRDM5 protein sequence variants perturbing transcriptional function, suggesting a potentially important role in hematopoiesis... - Mutations in a gene encoding a midbody protein in binucleated Reed-Sternberg cells of Hodgkin lymphomaMaxwell M Krem
Medical Oncology Program, Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA
Cell Cycle 9:670-5. 2010..Midbody components may be an overlooked source of tumor suppressor genes... - Double de novo mutations of ELA2 in cyclic and severe congenital neutropeniaStephen J Salipante
Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
Hum Mutat 28:874-81. 2007.... - Clonal expansions in ulcerative colitis identify patients with neoplasiaJesse J Salk
Department of Pathology, University of Washington School of Medicine, Seattle, WA 98105, USA
Proc Natl Acad Sci U S A 106:20871-6. 2009.... - Phylogenetic analysis of developmental and postnatal mouse cell lineagesStephen J Salipante
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98109, USA
Evol Dev 12:84-94. 2010..This work offers a longitudinal study of developmental lineages, from conception to adulthood, and provides insight into basic questions of mouse embryology as well as the somatic processes that occur after birth... - Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cellsStephen J Salipante
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
Proc Natl Acad Sci U S A 106:14920-5. 2009..Depletion of KLHDC8B through RNA interference leads to an increase in binucleated cells, implicating its reduced expression in the formation of cHL's signature RS cell... - Gfi-1 oncoproteins in hematopoiesisZhijun Duan
Department of Medicine, University of Washington School of Medicine, Seattle 98195 7720, USA
Hematology 8:339-44. 2003..The ongoing identification of repressed target genes and interacting transcriptional cofactors is helping to unravel the central contributions of these two hematopoietic factors... - Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2Richard E Person
Department of Pathology, University of Washington School of Medicine, Box 357720, Seattle, Washington 98195, USA
Nat Genet 34:308-12. 2003.... - Phylogenetic fate mapping: theoretical and experimental studies applied to the development of mouse fibroblastsStephen J Salipante
Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
Genetics 178:967-77. 2008.... - A phylogenetic approach to mapping cell fateStephen J Salipante
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA
Curr Top Dev Biol 79:157-84. 2007.... - Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesisDavid S Grenda
Division of Oncology, Department of Medicine, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
Blood 100:3221-8. 2002..To date, no cases of leukemia have been detected. Collectively, these data suggest that expression of V72M NE is not sufficient to induce an SCN phenotype or leukemia in mice... - Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2Feng-Qian Li
Department of Medicine, Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, Washington 98195-7720, USA
J Biol Chem 279:2873-84. 2004..Two hereditary AML predisposition syndromes may therefore intersect via LEF-1, potentially linking them to more generalized cancer mechanisms... - A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropeniaZhijun Duan
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington 98195, USA
Mol Cell Biol 24:58-70. 2004.... - Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastaseKathleen F Benson
Division of Medical Genetics/Department of Medicine, University of Washington School of Medicine, Box 357720, 1705 NE Pacific Street, HSB-K236B, Seattle, Washington 98195, USA
Nat Genet 35:90-6. 2003..Most mutations in ELA2 that cause human cyclic hematopoiesis prevent membrane localization of neutrophil elastase, whereas most mutations in ELA2 that cause SCN lead to exclusive membrane localization... - Hereditary neutropenia: dogs explain human neutrophil elastase mutationsMarshall Horwitz
Division of Medical Genetics Department of Medicine, University of Washington School of Medicine, 1705 NE Pacific Street, HSB K236B, Box 357720 Seattle, WA 98195, USA
Trends Mol Med 10:163-70. 2004.... - Gfi-1 takes center stage in hematopoietic stem cellsZhijun Duan
Division of Medical Genetics/Department of Medicine, University of Washington School of Medicine, 1705 NE Pacific Street, HSB-K236B, Box 357720, Seattle, WA 98195, USA
Trends Mol Med 11:49-52. 2005.... - Gfi1 coordinates epigenetic repression of p21Cip/WAF1 by recruitment of histone lysine methyltransferase G9a and histone deacetylase 1Zhijun Duan
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Box 357720, Seattle, WA 98195, USA
Mol Cell Biol 25:10338-51. 2005..Silencing of Gfi1 expression in myeloid cells reverses G9a and HDAC1 recruitment to p21Cip/WAF1 and elevates its expression. These findings highlight the role of epigenetics in the regulation of development and oncogenesis by Gfi1... - Phylogenetic fate mappingStephen J Salipante
Department of Genome Sciences, Division of Medical Genetics, University of Washington School of Medicine, Box 357720, Seattle, WA 98195, USA
Proc Natl Acad Sci U S A 103:5448-53. 2006..The result is consistent with the present understanding of embryogenesis and demonstrates the large scale potential of this method for producing a complete mammalian cell fate at the resolution of a single cell... - Neutropenia in 6 ethnic groups from the Caribbean and the U.SVictor R Grann
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York City, New York 10032, USA
Cancer 113:854-60. 2008.... - Passenger mutations as a marker of clonal cell lineages in emerging neoplasiaJesse J Salk
Department of Pathology, University of Washington School of Medicine MB 357705, 1959 NE Pacific St, Seattle, WA 98195, United States
Semin Cancer Biol 20:294-303. 2010..We discuss historical as well as contemporary approaches and consider ways in which powerful new genomic technologies might be harnessed to develop a future generation of early cancer diagnostics... - Targets of the transcriptional repressor oncoprotein Gfi-1Zhijun Duan
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, 1705 Northeast Pacific Street, HSB K236B, P O Box 357720, Seattle, WA 98195, USA
Proc Natl Acad Sci U S A 100:5932-7. 2003.... - Familial leukemiaKathleen F Benson
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Box 357720, Seattle, WA 98195, USA
Best Pract Res Clin Haematol 19:269-79. 2006.... - 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 neutropeniaKathleen F Benson
Division of Medical Genetics/Department of Medicine, University of Washington School of Medicine, Box 357720, 1705 NE Pacific Street, HSB-K236B, Seattle, WA 98195, USA
Nucleic Acids Res 32:6327-33. 2004..Out of frame transcripts are degraded, accounting for this paradox through the preferential accumulation of normal message from mutant alleles... - Lymphadenopathy as the primary manifestation of malignant transformation in two patients with severe congenital neutropeniaChristopher J Gamper
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Pediatr Blood Cancer 50:1072-5. 2008.... - IKK gamma (NEMO) is involved in the coordination of the AP-1 and NF-kappa B pathwaysAmde Selassie Shifera
Department of Microbiology and Immunology, Albert Einstein College of Medicine, Forchheimer Bldg, Room 713, 1300 Morris Park Av, Bronx, NY 10461, USA
Mol Cell Biochem 310:181-90. 2008..Our results indicate that IKK gamma regulates TNF alpha signaling by coordinating cell responses mediated by the AP-1 and NF-kappa B pathways... - Function of adenovirus E3 proteins and their interactions with immunoregulatory cell proteinsMarshall S Horwitz
Albert Einstein College of Medicine, Department of Microbiology and Immunology, 1300 Morris Park Avenue, Bronx, NY 10461, USA
J Gene Med 6:S172-83. 2004..The use of Ad E3 immunoregulatory genes to facilitate allogeneic transplantation and prevent autoimmune diabetes will be described... - The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropeniaNima Rezaei
Immunology, Asthma and Allergy Research Institute, Department of Allergy and Clinical Immunology of Children Medical Center, Medical Sciences University of Tehran, Tehran 14194, Iran
J Clin Immunol 27:525-33. 2007..Three patients died because of a severe infection. Although SCN is a rare disorder, early onset of severe and recurrent infections should always raise a suspicion, which deserves further evaluation for detecting such disorder...
Research Grants
- Genomic Fate MapsMarshall S Horwitz; Fiscal Year: 2010..We will initially focus our studies on how the liver develops and responds to injury. ..
- Molecular Genetic Basic of Cyclic HematopiesisMarshall S Horwitz; Fiscal Year: 2010..3. Evaluate the genes encoding nodal points of the proposed feedback circuit as candidates for unaccounted cases of neutropenia. ..
- Mistargeting of Elastase in Bone Marrow FailureMarshall Horwitz; Fiscal Year: 2007..1 Determine if ELA2 promoter variation contributes to neutropenia; 3.2 Measure the frequency of the ELA2 C-199A allele in individuals of African descent with benign ethnic neutropenia; 3.3 Identify new neutropenia genes. ..
- Molecular Genetic Basic of Cyclic HematopiesisMarshall Horwitz; Fiscal Year: 2007..3. Evaluate the genes encoding nodal points of the proposed feedback circuit as candidates for unaccounted cases of neutropenia. ..
- MEDICAL GENETICS POSTDOCTORAL FELLOWSHIPMarshall Horwitz; Fiscal Year: 2007..As they progress, trainees are encouraged to seek individual fellowship awards. The Program continues in its successful mission of launching independent, research-focused careers in medical genetics. ..
- MOLECULAR GENETIC BASIS OF CYCLIC HEMATOPOIESISMarshall Horwitz; Fiscal Year: 2006..The broad, long-term objective is to understand the 21 day biological clock of the bone marrow, whose cycle is made evident in this disease. ..
- Genomic Fate MapsMarshall S Horwitz; Fiscal Year: 2010..We will initially focus our studies on how the liver develops and responds to injury. ..