Search Results - "McNaughton, Amy J M"
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Comorbid and inflammatory characteristics of genetic subtypes of clonal hematopoiesis
Published in Blood advances (27-08-2019)“…•CH may be associated with broader ill health (worse performance status, increased and potentially novel comorbidities).•Serum interleukin-6 is elevated in…”
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Interplay between maternal Slc6a4 mutation and prenatal stress: a possible mechanism for autistic behavior development
Published in Scientific reports (18-08-2017)“…The low activity allele of the maternal polymorphism, 5HTTLPR, in the serotonin transporter, SLC6A4 , coupled with prenatal stress is reported to increase the…”
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Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism
Published in Journal of human genetics (01-03-2020)“…Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneity in presentation, genetic etiology, and clinical outcome. Although…”
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Association of Clonal Hematopoiesis of Indeterminate Potential with Worse Kidney Function and Anemia in Two Cohorts of Patients with Advanced Chronic Kidney Disease
Published in Journal of the American Society of Nephrology (01-05-2022)“…Clonal hematopoiesis of indeterminate potential (CHIP) is an inflammatory premalignant disorder resulting from acquired genetic mutations in hematopoietic stem…”
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A Lower Frequency of Spliceosome Mutations Distinguishes Clonal Cytopenias of Undetermined Significance From Low-Risk Myelodysplastic Syndromes, Despite Inherent Similarities in Genomic, Laboratory, and Clinical Features
Published in Modern pathology (01-03-2023)“…Clonal cytopenias of undetermined significance (CCUS) are associated with an increased risk of developing a myelodysplastic syndrome (MDS); however, the…”
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Neutrophil-mediated innate immune resistance to bacterial pneumonia is dependent on Tet2 function
Published in The Journal of clinical investigation (01-06-2024)“…Individuals with clonal hematopoiesis of indeterminate potential (CHIP) are at increased risk of aging related health conditions and all-cause mortality, but…”
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Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability
Published in Human molecular genetics (15-10-2015)“…Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid…”
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Chronic TNF in the aging microenvironment exacerbates Tet2 loss-of-function myeloid expansion
Published in Blood advances (13-08-2024)“…•The inflammatory microenvironment that accompanies aging, and specifically TNF, favors TET2-mutant myeloid expansion.•Therapeutic blockage of TNF may be a…”
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U2AF1 S34/Q157 Variants Detected in cis Arise Sequentially in an MDS Patient With Serial Sequencing Spanning 18 Years
Published in HemaSphere (01-10-2022)Get full text
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U2AF1S34/Q157 Variants Detected in cis Arise Sequentially in an MDS Patient With Serial Sequencing Spanning 18 Years
Published in HemaSphere (01-10-2022)Get full text
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11
De novo duplication on chromosome 19 observed in nuclear family displaying neurodevelopmental disorders
Published in Cold Spring Harbor molecular case studies (01-06-2020)“…Pleiotropy and variable expressivity have been cited to explain the seemingly distinct neurodevelopmental disorders due to a common genetic etiology within the…”
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Noninvasive Prenatal Detection of Trisomy 21 by Targeted Semiconductor Sequencing: A Technical Feasibility Study
Published in Fetal diagnosis and therapy (01-12-2017)“…To develop an alternate noninvasive prenatal testing method for the assessment of trisomy 21 (T21) using a targeted semiconductor sequencing approach. A…”
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Chronic TNF in the Aging Microenvironment Exacerbates TET2-loss-of-Function Myeloid Expansion
Published in Blood (02-11-2023)“…Introduction: Age-associated TET2 somatic mutations impart an intrinsic hematopoietic stem cell (HSC) advantage and contribute to the phenomenon of clonal…”
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The Impact of Clonal Hematopoiesis on Clinical Outcomes and Clonal Dynamics in Older Lymphoma Patients Receiving Chemotherapy
Published in Blood (02-11-2023)“…Background: CHIP is more commonly encountered in cancer patients, such as those with lymphoma, than in the general population likely attributable to age,…”
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Homozygosity for the 10-repeat dopamine transporter (DAT1) allele is associated with reduced EEG response in males with ASD
Published in Research in autism spectrum disorders (01-04-2019)“…•Individuals with ASD and their undiagnosed relatives present similar EEG responses.•COMT and OXTR polymorphisms not associated with any specific EEG…”
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Clinical Utility of Hematopathologist-Triaged NGS Testing When Investigating Patients with Suspected MDS
Published in Blood (23-11-2021)“…The recognition of MDS is challenging in early stages, where diagnosis may rely solely upon morphological criteria for dysplasia, a non-specific finding prone…”
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CCUS and Low-Risk MDS Are Inherently Similar, Sharing Clonal and Clinical Features
Published in Blood (15-11-2022)Get full text
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18
Impact of temperature on the expression of Kennedy Pathway genes in developing soybean seeds
Published in Canadian journal of plant science (01-01-2015)“…McNaughton, A. J. M., Shelp, B. J. and Rajcan, I. 2015. Impact of temperature on the expression of Kennedy Pathway genes in developing soybean seeds. Can. J…”
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Impact of temperature on the expression of Kennedy Pathway genes in developing soybean seeds
Published in Canadian journal of plant science (01-01-2015)“…McNaughton, A. J. M., Shelp, B. J. and Rajcan, I. 2015. Impact of temperature on the expression of Kennedy Pathway genes in developing soybean seeds. Can. J…”
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