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Jeffrey Carlson

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https://www.readbyqxmd.com/read/28432837/identifying-genetic-sources-of-phenotypic-heterogeneity-in-orofacial-clefts-by-targeted-sequencing
#1
Jenna C Carlson, Margaret A Taub, Eleanor Feingold, Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Elizabeth J Leslie
BACKGROUND: Orofacial clefts (OFCs), including nonsyndromic cleft lip with or without cleft palate (NSCL/P), are common birth defects. NSCL/P is highly heterogeneous with multiple phenotypic presentations. Two common subtypes of NSCL/P are cleft lip (CL) and cleft lip with cleft palate (CLP) which have different population prevalence. Similarly, NSCL/P can be divided into bilateral and unilateral clefts, with unilateral being the most common. Individuals with unilateral NSCL/P are more likely to be affected on the left side of the upper lip, but right side affection also occurs...
April 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28425186/association-studies-of-low-frequency-coding-variants-in-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#2
Elizabeth J Leslie, Jenna C Carlson, John R Shaffer, Carmen J Buxó, Eduardo E Castilla, Kaare Christensen, Frederic W B Deleyiannis, Leigh L Field, Jacqueline T Hecht, Lina Moreno, Ieda M Orioli, Carmencita Padilla, Alexandre R Vieira, George L Wehby, Eleanor Feingold, Seth M Weinberg, Jeffrey C Murray, Mary L Marazita
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. The "missing" heritability may be found in rare variants, copy number variants, or interactions. In this study, we investigated the role of low-frequency variants genotyped in 1995 cases and 1626 controls on the Illumina HumanCore + Exome chip...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28416600/induction-of-an-ifn-mediated-antiviral-response-by-a-self-amplifying-rna-vaccine-implications-for-vaccine-design
#3
Timothy Pepini, Anne-Marie Pulichino, Thomas Carsillo, Alicia L Carlson, Farid Sari-Sarraf, Katrin Ramsauer, Jason C Debasitis, Giulietta Maruggi, Gillis R Otten, Andrew J Geall, Dong Yu, Jeffrey B Ulmer, Carlo Iavarone
RNA-based vaccines have recently emerged as a promising alternative to the use of DNA-based and viral vector vaccines, in part because of the potential to simplify how vaccines are made and facilitate a rapid response to newly emerging infections. SAM vaccines are based on engineered self-amplifying mRNA (SAM) replicons encoding an Ag, and formulated with a synthetic delivery system, and they induce broad-based immune responses in preclinical animal models. In our study, in vivo imaging shows that after the immunization, SAM Ag expression has an initial gradual increase...
April 17, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28334820/high-resolution-time-course-mapping-of-early-transcriptomic-molecular-and-cellular-phenotypes-in-huntington-s-disease-cag-knock-in-mice-across-multiple-genetic-backgrounds
#4
Seth A Ament, Jocelynn R Pearl, Andrea Grindeland, Jason St Claire, John C Earls, Marina Kovalenko, Tammy Gillis, Jayalakshmi Mysore, James F Gusella, Jong-Min Lee, Seung Kwak, David Howland, Min Young Lee, David Baxter, Kelsey Scherler, Kai Wang, Donald Geman, Jeffrey B Carroll, Marcy E MacDonald, George Carlson, Vanessa C Wheeler, Nathan D Price, Leroy E Hood
Huntington's disease is a dominantly inherited neurodegenerative disease caused by the expansion of a CAG repeat in the HTT gene. In addition to the length of the CAG expansion, factors such as genetic background have been shown to contribute to the age at onset of neurological symptoms. A central challenge in understanding the disease progression that leads from the HD mutation to massive cell death in the striatum is the ability to characterize the subtle and early functional consequences of the CAG expansion longitudinally...
March 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28199920/family-burden-child-disability-and-the-adjustment-of-mothers-caring-for-children-with-epilepsy-role-of-social-support-and-coping
#5
Jeffrey M Carlson, Paul A Miller
PURPOSE: This study was designed to contribute to the existing research on the coping behaviors, social support, and mental health outcomes in parents of children with epilepsy in the United States. METHODS: Participants included 152, predominantly Caucasian (89.5%), married (78.9%) women (95.4%). Via a web-based interface, mothers completed questionnaires assessing the impact of their child's disability on their family (i.e., severity of their child's disability, family burden, and personal stress), social resources (i...
February 12, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28166219/identification-of-diverse-astrocyte-populations-and-their-malignant-analogs
#6
Chia-Ching John Lin, Kwanha Yu, Asante Hatcher, Teng-Wei Huang, Hyun Kyoung Lee, Jeffrey Carlson, Matthew C Weston, Fengju Chen, Yiqun Zhang, Wenyi Zhu, Carrie A Mohila, Nabil Ahmed, Akash J Patel, Benjamin R Arenkiel, Jeffrey L Noebels, Chad J Creighton, Benjamin Deneen
Astrocytes are the most abundant cell type in the brain, where they perform a wide array of functions, yet the nature of their cellular heterogeneity and how it oversees these diverse roles remains shrouded in mystery. Using an intersectional fluorescence-activated cell sorting-based strategy, we identified five distinct astrocyte subpopulations present across three brain regions that show extensive molecular diversity. Application of this molecular insight toward function revealed that these populations differentially support synaptogenesis between neurons...
March 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28135812/book-review-therapy-over-50-aging-issues-in-psychotherapy-and-the-therapist-s-life-kottler-jeffrey-a-carlson-jon-new-york-oxford-university-press-2016
#7
Neil Raveen Jeyasingam
No abstract text is available yet for this article.
January 1, 2017: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/28054497/the-lipopolysaccharide-lipid-a-long-chain-fatty-acid-is-important-for-rhizobium-leguminosarum-growth-and-stress-adaptation-in-free-living-and-nodule-environments
#8
Dianna V Bourassa, Elmar L Kannenberg, D Janine Sherrier, R Jeffrey Buhr, Russell W Carlson
Rhizobium bacteria live in soil and plant environments, are capable of inducing symbiotic nodules on legumes, invade these nodules, and develop into bacteroids that fix atmospheric nitrogen into ammonia. Rhizobial lipopolysaccharide (LPS) is anchored in the bacterial outer membrane through a specialized lipid A containing a very long-chain fatty acid (VLCFA). VLCFA function for rhizobial growth in soil and plant environments is not well understood. Two genes, acpXL and lpxXL, encoding acyl carrier protein and acyltransferase, are among the six genes required for biosynthesis and transfer of VLCFA to lipid A...
February 2017: Molecular Plant-microbe Interactions: MPMI
https://www.readbyqxmd.com/read/28054174/genome-wide-meta-analyses-of-nonsyndromic-orofacial-clefts-identify-novel-associations-between-foxe1-and-all-orofacial-clefts-and-tp63-and-cleft-lip-with-or-without-cleft-palate
#9
Elizabeth J Leslie, Jenna C Carlson, John R Shaffer, Azeez Butali, Carmen J Buxó, Eduardo E Castilla, Kaare Christensen, Fred W B Deleyiannis, L Leigh Field, Jacqueline T Hecht, Lina Moreno, Ieda M Orioli, Carmencita Padilla, Alexandre R Vieira, George L Wehby, Eleanor Feingold, Seth M Weinberg, Jeffrey C Murray, Terri H Beaty, Mary L Marazita
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects...
March 2017: Human Genetics
https://www.readbyqxmd.com/read/28045924/effects-of-spatial-localization-on-microbial-consortia-growth
#10
Michael Venters, Ross P Carlson, Tomas Gedeon, Jeffrey J Heys
Microbial consortia are commonly observed in natural and synthetic systems, and these consortia frequently result in higher biomass production relative to monocultures. The focus here is on the impact of initial spatial localization and substrate diffusivity on the growth of a model microbial consortium consisting of a producer strain that consumes glucose and produces acetate and a scavenger strain that consumes the acetate. The mathematical model is based on an individual cell model where growth is described by Monod kinetics, and substrate transport is described by a continuum-based, non-equilibrium reaction-diffusion model where convective transport is negligible (e...
2017: PloS One
https://www.readbyqxmd.com/read/28045747/next-generation-sequencing-reveals-pathway-activations-and-new-routes-to-targeted-therapies-in-cutaneous-metastatic-melanoma
#11
J Andrew Carlson, Jose Candido Caldeira Xavier, Ashley Tarasen, Christine E Sheehan, Geoff Otto, Vincent A Miller, Philip J Stephens, Julia A Elvin, Jo-Anne Vergilio, James Suh, Laurie M Gay, Jeffrey S Ross
BACKGROUND: Comprehensive genomic profiling of clinical samples by next-generation sequencing (NGS) can identify one or more therapy targets for the treatment of metastatic melanoma (MM) with a single diagnostic test. METHODS: NGS was performed on hybridization-captured, adaptor ligation-based libraries using DNA extracted from 4 formalin-fixed paraffin-embedded sections cut at 10 microns from 30 MM cases. The exons of 182 cancer-related genes were fully sequenced using the Illumina HiSeq 2000 at an average sequencing depth of 1098X and evaluated for genomic alterations (GAs) including point mutations, insertions, deletions, copy number alterations, and select gene fusions/rearrangements...
January 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28042905/the-neurostimulation-appropriateness-consensus-committee-nacc-recommendations-on-bleeding-and-coagulation-management-in-neurostimulation-devices
#12
Timothy R Deer, Samer Narouze, David A Provenzano, Jason E Pope, Steven M Falowski, Marc A Russo, Honorio Benzon, Konstantin Slavin, Julie G Pilitsis, Kenneth Alo, Jonathan D Carlson, Porter McRoberts, Shivanand P Lad, Jeffrey Arle, Robert M Levy, Brian Simpson, Nagy Mekhail
INTRODUCTION: The Neurostimulation Appropriateness Consensus Committee (NACC) was formed by the International Neuromodulation Society (INS) in 2012 to evaluate the evidence to reduce the risk of complications and improve the efficacy of neurostimulation. The first series of papers, published in 2014, focused on the general principles of appropriate practice in the surgical implantation of neurostimulation devices. The NACC was reconvened in 2014 to address specific patient care issues, including bleeding and coagulation...
January 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/27987328/trpm1-melastatin-expression-is-an-independent-predictor-of-overall-survival-in-clinical-ajcc-stage-i-and-ii-melanoma-patients
#13
Anna A Brożyna, Huazhang Guo, Sun-Eun Yang, Lynn Cornelius, Gerald Linette, Michael Murphy, Christine Sheehan, Jeffrey Ross, Andrzej Slominski, J Andrew Carlson
BACKGROUND: The expression of TRPM1 (melastatin) mRNA is an independent marker, as measured by radioactive in situ hybridization (RISH), of disease-free survival in primary cutaneous melanoma (PM). The aim of the study was to determine if chromogenic in situ hybridization (CISH) can reproduce results examining diagnostic and prognostic utility of TRPM1 mRNA expression in melanocytic proliferations as measured by RISH. METHODS: The expression of TRPM1 mRNA was detected by CISH in melanocytic nevi (MN, n = 61), PM (n = 145) and metastatic melanomas (MMs, n = 15)...
December 17, 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27973554/strategies-for-enriching-variant-coverage-in-candidate-disease-loci-on-a-multiethnic-genotyping-array
#14
Stephanie A Bien, Genevieve L Wojcik, Niha Zubair, Christopher R Gignoux, Alicia R Martin, Jonathan M Kocarnik, Lisa W Martin, Steven Buyske, Jeffrey Haessler, Ryan W Walker, Iona Cheng, Mariaelisa Graff, Lucy Xia, Nora Franceschini, Tara Matise, Regina James, Lucia Hindorff, Loic Le Marchand, Kari E North, Christopher A Haiman, Ulrike Peters, Ruth J F Loos, Charles L Kooperberg, Carlos D Bustamante, Eimear E Kenny, Christopher S Carlson
Investigating genetic architecture of complex traits in ancestrally diverse populations is imperative to understand the etiology of disease. However, the current paucity of genetic research in people of African and Latin American ancestry, Hispanic and indigenous peoples in the United States is likely to exacerbate existing health disparities for many common diseases. The Population Architecture using Genomics and Epidemiology, Phase II (PAGE II), Study was initiated in 2013 by the National Human Genome Research Institute to expand our understanding of complex trait loci in ethnically diverse and well characterized study populations...
2016: PloS One
https://www.readbyqxmd.com/read/27937051/wnt10b-and-dkk-1-gene-therapy-differentially-influenced-trabecular-bone-architecture-soft-tissue-integrity-and-osteophytosis-in-a-skeletally-mature-rat-model-of-osteoarthritis
#15
Jeffrey B Mason, Brittney L Gurda, Kurt D Hankenson, Lindsey R Harper, Cathy S Carlson, James M Wilson, Dean W Richardson
AIMS: Our goals in the current experiments were to determine if (a) upregulation of Wnt signaling would induce osteoarthritis changes in stable stifle joints and (b) if downregulation of Wnt signaling in destabilized joints would influence the progression of OA. METHODS: At 37 weeks of age, rats were injected in the stifle joint with a recombinant adeno-associated viral vector containing the Wnt-inhibitor Dkk-1 or a Wnt10b transgene. At 40 weeks of age, rats underwent surgical destabilization of the joint...
December 9, 2016: Connective Tissue Research
https://www.readbyqxmd.com/read/27885952/pretreatment-growth-rate-as-a-predictor-of-tumor-control-following-gamma-knife-radiosurgery-for-sporadic-vestibular-schwannoma
#16
Alexander P Marston, Jeffrey T Jacob, Matthew L Carlson, Bruce E Pollock, Colin L W Driscoll, Michael J Link
OBJECTIVE Over the last 30 years, stereotactic radiosurgery (SRS) has become an established noninvasive treatment alternative for small- to medium-sized vestibular schwannoma (VS). This study aims to further define long-term SRS tumor control in patients with documented pretreatment tumor growth for whom conservative observation failed. METHODS A prospective clinical database was queried, and patients with sporadic VS who elected initial observation and subsequently underwent SRS after documented tumor growth between 2004 and 2014 were identified...
November 25, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27721002/lumbar-muscle-cross-sectional-areas-do-not-predict-clinical-outcomes-in-adults-with-spinal-stenosis-a-longitudinal-study
#17
Alfred C Gellhorn, Pradeep Suri, Sean D Rundell, Nathan Olafsen, M Jake Carlson, Steve Johnson, Adrielle Fry, Thiru M Annaswamy, Christopher Gilligan, Bryan Comstock, Patrick Heagerty, Janna Friedly, Jeffrey G Jarvik
BACKGROUND: Minimal longitudinal data exist regarding the role of lumbar musculature in predicting back pain and function. In cross-sectional study designs, there is often atrophy of the segmental multifidus muscle in subjects with low back pain compared with matched controls. However, the cross-sectional design of these studies prevents drawing conclusions regarding whether lumbar muscle characteristics predict or modify future back pain or function. OBJECTIVE: The primary objective of this study is to determine whether the cross-sectional area (CSA) of lumbar muscles predict functional status or back pain at 6- or 12-month follow-up in older adults with spinal degeneration...
October 6, 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27698417/a-cholinergic-basal-forebrain-feeding-circuit-modulates-appetite-suppression
#18
Alexander M Herman, Joshua Ortiz-Guzman, Mikhail Kochukov, Isabella Herman, Kathleen B Quast, Jay M Patel, Burak Tepe, Jeffrey C Carlson, Kevin Ung, Jennifer Selever, Qingchun Tong, Benjamin R Arenkiel
Atypical food intake is a primary cause of obesity and other eating and metabolic disorders. Insight into the neural control of feeding has previously focused mainly on signalling mechanisms associated with the hypothalamus, the major centre in the brain that regulates body weight homeostasis. However, roles of non-canonical central nervous system signalling mechanisms in regulating feeding behaviour have been largely uncharacterized. Acetylcholine has long been proposed to influence feeding owing in part to the functional similarity between acetylcholine and nicotine, a known appetite suppressant...
October 13, 2016: Nature
https://www.readbyqxmd.com/read/27693618/abbreviated-environmental-enrichment-confers-neurobehavioral-cognitive-and-histological-benefits-in-brain-injured-female-rats
#19
Hannah L Radabaugh, Lauren J Carlson, Darik A O'Neil, Megan J LaPorte, Christina M Monaco, Jeffrey P Cheng, Patricia B de la Tremblaye, Naima Lajud, Corina O Bondi, Anthony E Kline
Environmental enrichment (EE) promotes behavioral recovery after experimental traumatic brain injury (TBI). However, the chronic rehabilitation provided in the laboratory is not analogous to the clinic where physiotherapy is typically limited. Moreover, females make up approximately 40% of the clinical TBI population, yet they are seldom studied in brain trauma. Hence, the goal of this study was to test the hypothesis that abbreviated EE would confer neurobehavioral, cognitive, and histological benefits in brain injured female rats...
December 2016: Experimental Neurology
https://www.readbyqxmd.com/read/27693556/anti-tumor-activity-of-selective-inhibitor-of-nuclear-export-sine-compounds-is-enhanced-in-non-hodgkin-lymphoma-through-combination-with-mtor-inhibitor-and-dexamethasone
#20
Irfana Muqbil, Amro Aboukameel, Sivan Elloul, Robert Carlson, William Senapedis, Erkan Baloglu, Michael Kauffman, Sharon Shacham, Divaya Bhutani, Jeffrey Zonder, Asfar S Azmi, Ramzi M Mohammad
In previous studies we demonstrated that targeting the nuclear exporter protein exportin-1 (CRM1/XPO1) by a selective inhibitor of nuclear export (SINE) compound is a viable therapeutic strategy against Non-Hodgkin Lymphoma (NHL). Our studies along with pre-clinical work from others led to the evaluation of the lead SINE compound, selinexor, in a phase 1 trial in patients with CLL or NHL (NCT02303392). Continuing our previous work, we studied combinations of selinexor-dexamethasone (DEX) and selinexor-everolimus (EVER) in NHL...
December 28, 2016: Cancer Letters
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