Zobrazeno 1 - 10 of 25 pro vyhledávání: '"Lindsay R Stolzenburg"'
1
Akademický článek
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases
Autor: Ammar J. Alsheikh, Sabrina Wollenhaupt, Emily A. King, Jonas Reeb, Sujana Ghosh, Lindsay R. Stolzenburg, Saleh Tamim, Jozef Lazar, J. Wade Davis, Howard J. Jacob
Publikováno v: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-21 (2022)
Abstract Background The remarkable growth of genome-wide association studies (GWAS) has created a critical need to experimentally validate the disease-associated variants, 90% of which involve non-coding variants. Methods To determine how the field i
Externí odkaz: https://doaj.org/article/d0874d4b110e421f9c22bf448f29db52
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2
Akademický článek
Functional characterization of a single nucleotide polymorphism associated with Alzheimer's disease in a hiPSC-based neuron model.
Autor: Lindsay R Stolzenburg, Sahar Esmaeeli, Ameya S Kulkarni, Erin Murphy, Taekyung Kwon, Christina Preiss, Lamiaa Bahnassawy, Joshua D Stender, Justine D Manos, Peter Reinhardt, Fedik Rahimov, Jeffrey F Waring, Cyril Y Ramathal
Publikováno v: PLoS ONE, Vol 18, Iss 9, p e0291029 (2023)
Neurodegenerative diseases encompass a group of debilitating conditions resulting from progressive nerve cell death. Of these, Alzheimer's disease (AD) occurs most frequently, but is currently incurable and has limited treatment success. Late onset A
Externí odkaz: https://doaj.org/article/395ae1654da24c70810025fdf7471ad2
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4
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases
Autor: Ammar J. Alsheikh, Sabrina Wollenhaupt, Emily A. King, Jonas Reeb, Sujana Ghosh, Lindsay R. Stolzenburg, Saleh Tamim, Jozef Lazar, J. Wade Davis, Howard J. Jacob
Publikováno v: BMC medical genomics. 15(1)
Background The remarkable growth of genome-wide association studies (GWAS) has created a critical need to experimentally validate the disease-associated variants, 90% of which involve non-coding variants. Methods To determine how the field is address
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d609fd49de2bebe95aea71546dcc879
https://pubmed.ncbi.nlm.nih.gov/35365203
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5
Akademický článek
The Caenorhabditis elegans Myc-Mondo/Mad complexes integrate diverse longevity signals.
Autor: David W Johnson, Jesse R Llop, Sara F Farrell, Jie Yuan, Lindsay R Stolzenburg, Andrew V Samuelson
Publikováno v: PLoS Genetics, Vol 10, Iss 4, p e1004278 (2014)
The Myc family of transcription factors regulates a variety of biological processes, including the cell cycle, growth, proliferation, metabolism, and apoptosis. In Caenorhabditis elegans, the "Myc interaction network" consists of two opposing heterod
Externí odkaz: https://doaj.org/article/9744c6b641514d79967098ddb30f86d4
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6
Microvesicle-mediated delivery of miR-1343: impact on markers of fibrosis
Autor: Lindsay R. Stolzenburg, Ann Harris
Publikováno v: Cell and Tissue Research. 371:325-338
Tissue fibrosis, the development of fibrous connective tissue as a result of injury or damage, is associated with many common diseases and cannot be treated effectively. The complex biological processes accompanying fibrosis often involve aberrant si
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::966a0cc27888a5b105d38ed17d52bd93
https://doi.org/10.1007/s00441-017-2697-6
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7
Regulatory dynamics of 11p13 suggest a role for EHF in modifying CF lung disease severity
Autor: Kay-Marie Lamar, Rui Yang, Ann Harris, Andrew D. Hoffmann, Sujana Ghosh, Shih Hsing Leir, Sara L. Fossum, Matthew Xu, Jenny L. Kerschner, Sarah Wachtel, Lindsay R. Stolzenburg
Publikováno v: Nucleic Acids Research
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF), but are not good predictors of lung phenotype. Genome-wide association studies (GWAS) previously identified additional genomic sites associat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f2f287634828ff657bfa0fb3b36630
https://doi.org/10.1093/nar/gkx482
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8
The role of microRNAs in chronic respiratory disease: recent insights
Autor: Lindsay R. Stolzenburg, Ann Harris
Publikováno v: Biol Chem
Chronic respiratory diseases encompass a group of diverse conditions affecting the airways, which all impair lung function over time. They include cystic fibrosis (CF), idiopathic pulmonary fibrosis (IPF), chronic obstructive pulmonary disease (COPD)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6cf690379d06c9ef20511740d5f182b
https://pubmed.ncbi.nlm.nih.gov/29148977
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9
Podocyte-specific knockout of myosin 1e disrupts glomerular filtration
Autor: Mira Krendel, Sharon E. Chase, Lindsay R. Stolzenburg, Lawrence B. Holzman, Christina V. Encina, Arthur H. Tatum
Publikováno v: American Journal of Physiology-Renal Physiology. 303:F1099-F1106
Myosin 1e (myo1e) is an actin-dependent molecular motor that plays an important role in kidney functions. Complete knockout of myo1e in mice and Myo1E mutations in humans are associated with nephrotic syndrome and focal segmental glomerulosclerosis.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca0b6f10f9e21624896b9b61a62bd3ce
https://doi.org/10.1152/ajprenal.00251.2012
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10
DYRK1A controls the transition from proliferation to quiescence during lymphoid development by destabilizing Cyclin D3
Autor: Lindsay R. Stolzenburg, Bertrand Leblond, Sébastien Malinge, Laurent Desire, Thierry Besson, John D. Crispino, Lauren Diebold, Daniel E. Cook, Casagrande Anne-Sophie, Benjamin J. Thompson, Rahul S. Bhansali
Publikováno v: Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2015, 212 (6), pp.723-740. ⟨10.1084/jem.20150002⟩
The Journal of Experimental Medicine
Thompson et al. identify the dual specificity tyrosine-regulated kinase 1A (DYRK1A) as a new player in the control of lymphopoiesis. Loss of DYRK1A in mice results in Cyclin D3 stabilization and failure to repress E2F target genes, thus impairing cel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1059e9ba20e6f80396b909a66ea459f3
https://hal.archives-ouvertes.fr/hal-01160621/file/953.full-1.pdf
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