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Showing 25 to 36 of 176 entries
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Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare .

Circulation. Genomic and precision medicine

Kozek K, Wada Y, Sala L, Denjoy I, Egly C, O'Neill MJ, Aiba T, Shimizu W, Makita N, Ishikawa T, Crotti L, Spazzolini C, Kotta MC, Dagradi F, Castelletti S, Pedrazzini M, Gnecchi M, Leenhardt A, Salem JE, Ohno S, Zuo Y, Glazer AM, Mosley JD, Roden DM, Knollmann BC, Blume JD, Extramiana F, Schwartz PJ, Horie M, Kroncke BM.
PMID: 34309407
Circ Genom Precis Med. 2021 Aug;14(4):e003289. doi: 10.1161/CIRCGEN.120.003289. Epub 2021 Jul 26.

BACKGROUND: The proliferation of genetic profiling has revealed many associations between genetic variations and disease. However, large-scale phenotyping efforts in largely healthy populations, coupled with DNA sequencing, suggest variants currently annotated as pathogenic are more common in healthy populations...

Mechanism of association of human plasma apolipoproteins with dimyristoylphosphatidylcholine: effect of lipid clusters on reaction rates.

Biophysical journal

Pownall HJ, Massey JB.
PMID: 19431466
Biophys J. 1982 Jan;37(1):177-9. doi: 10.1016/S0006-3495(82)84659-6.

No abstract available.

Diversity and function of arthropod endosymbiont toxins.

Trends in microbiology

Massey JH, Newton ILG.
PMID: 34253453
Trends Microbiol. 2021 Jul 09; doi: 10.1016/j.tim.2021.06.008. Epub 2021 Jul 09.

Bacterial endosymbionts induce dramatic phenotypes in their arthropod hosts, including cytoplasmic incompatibility, feminization, parthenogenesis, male killing, parasitoid defense, and pathogen blocking. The molecular mechanisms underlying these effects remain largely unknown but recent evidence suggests that protein toxins secreted by...

Cell plasticity, senescence, and quiescence in cancer stem cells: Biological and therapeutic implications.

Pharmacology & therapeutics

Paul R, Dorsey JF, Fan Y.
PMID: 34480963
Pharmacol Ther. 2021 Sep 01;107985. doi: 10.1016/j.pharmthera.2021.107985. Epub 2021 Sep 01.

Cancer stem cells (CSCs) are a distinct population of cells within tumors with capabilities of self-renewal and tumorigenicity. CSCs play a pivotal role in cancer progression, metastasis, and relapse and tumor resistance to cytotoxic therapy. Emerging scientific evidence indicates...

Correction to The Significance of Environmental Attributes as Indicators of the Life Cycle Environmental Impacts of Packaging and Food Service Ware.

Environmental science & technology

Vendries J, Sauer B, Hawkins TR, Mosley JM, Hottle TA, Allaway D, Canepa P, Rivin J, Mistry M.
PMID: 33226215
Environ Sci Technol. 2020 Dec 15;54(24):16260. doi: 10.1021/acs.est.0c07512. Epub 2020 Nov 23.

No abstract available.

Analysis of Author Gender in the Pediatric Orthopaedic Literature from 2011 to 2020.

Journal of pediatric orthopedics

Prior A, Ogburu-Ogbonnaya N, Barfield WR, Mooney JF, Van Nortwick S, Murphy RF.
PMID: 33989256
J Pediatr Orthop. 2021 May 13; doi: 10.1097/BPO.0000000000001844. Epub 2021 May 13.

INTRODUCTION: Orthopaedic surgery remains a male-dominated specialty. To date there has not been a focused analysis of gender in authorship within the pediatric orthopaedic literature.METHODS: The electronic table of contents from 2011 to 2020 of 3 major pediatric orthopaedic...

Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.

Circulation

Glazer AM, Davogustto GE, Shaffer CM, Vanoye CG, Desai RR, Farber-Eger E, Dikilitas O, Shang N, Pacheco JA, Yang T, Muhammad A, Mosley JD, Van Driest SL, Wells QS, Shaffer LL, Kalash OR, Wada Y, Bland S, Yoneda ZT, Mitchell DW, Kroncke BM, Kullo IJ, Jarvik GP, Gordon AS, Larson EB, Manolio TA, Mirshahi T, Luo JZ, Schaid D, Namjou B, Alsaied T, Singh R, Singhal A, Liu C, Weng C, Hripcsak G, Ralston JD, McNally EM, Chung WK, Carrell DS, Leppig KA, Hakonarson H, Sleiman P, Sohn S, Glessner J, Denny J, Wei WQ, George A, Shoemaker MB, Roden DM.
PMID: 34930020
Circulation. 2021 Dec 21; doi: 10.1161/CIRCULATIONAHA.121.055562. Epub 2021 Dec 21.

No abstract available.

Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.

Oral diseases

Li M, Olotu J, Buxo-Martinez CJ, Mossey PA, Anand D, Busch T, Alade A, Gowans LJJ, Eshete M, Adeyemo WL, Naicker T, Awotoye WO, Gupta S, Adeleke C, Bravo V, Huang S, Adamson OO, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Petrin A, Malloy H, Elhadi K, James O, Ogunlewe MO, Abate F, Hailu A, Mohammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Obiri-Yeboah S, Arthur FKN, Oti AA, Donkor P, Marazita ML, Lachke SA, Adeyemo AA, Murray JC, Butali A.
PMID: 34061439
Oral Dis. 2021 Jun 01; doi: 10.1111/odi.13932. Epub 2021 Jun 01.

OBJECTIVES: Cleft lip with/without cleft palate and cleft palate only is congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births worldwide, these orofacial clefts impose significant social...

Identifying Potential Therapeutic Applications and Diagnostic Harms of Increased Bilirubin Concentrations: A Clinical and Genetic Approach.

Clinical pharmacology and therapeutics

Zanussi JT, Zhao J, Dorn CA, Liu G, Feng Q, Wei W, Mosley JD, Stein CM, Kawai VK.
PMID: 34625956
Clin Pharmacol Ther. 2022 Feb;111(2):435-443. doi: 10.1002/cpt.2441. Epub 2021 Oct 24.

Bilirubin has antioxidant and anti-inflammatory properties in vitro and in animal studies and protects against inflammatory, cardiovascular, and other diseases in observational studies; therefore, bilirubin has potential as a therapeutic agent. However, observational studies could be confounded by many...

Proteomic profiling reveals biomarkers and pathways in type 2 diabetes risk.

JCI insight

Ngo D, Benson MD, Long JZ, Chen ZZ, Wang R, Nath AK, Keyes MJ, Shen D, Sinha S, Kuhn E, Morningstar JE, Shi X, Peterson BD, Chan C, Katz DH, Tahir UA, Farrell LA, Melander O, Mosley JD, Carr SA, Vasan RS, Larson MG, Smith JG, Wang TJ, Yang Q, Gerszten RE.
PMID: 33591955
JCI Insight. 2021 Mar 08;6(5). doi: 10.1172/jci.insight.144392.

Recent advances in proteomic technologies have made high-throughput profiling of low-abundance proteins in large epidemiological cohorts increasingly feasible. We investigated whether aptamer-based proteomic profiling could identify biomarkers associated with future development of type 2 diabetes (T2DM) beyond known risk...

Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis.

Lupus

Kawai VK, Shi M, Liu G, Feng Q, Wei W, Chung CP, Walunas TL, Gordon AS, Linneman JG, Hebbring SJ, Harley JB, Cox NJ, Roden DM, Stein CM, Mosley JD.
PMID: 33977795
Lupus. 2021 Jul;30(8):1264-1272. doi: 10.1177/09612033211014952. Epub 2021 May 12.

OBJECTIVES: To test the hypothesis that genetic predisposition to systemic lupus erythematosus (SLE) increases the risk of cardiometabolic disorders.METHODS: Using 41 single nucleotide polymorphisms (SNPs) associated with SLE, we calculated a weighted genetic risk score (wGRS) for SLE. In...

Dog leucocyte antigen (DLA) class II haplotypes and risk of canine diabetes mellitus in specific dog breeds.

Canine medicine and genetics

Denyer AL, Massey JP, Davison LJ, Ollier WER, Catchpole B, Kennedy LJ.
PMID: 33292601
Canine Med Genet. 2020 Oct 31;7(1):15. doi: 10.1186/s40575-020-00093-9.

BACKGROUND: Canine diabetes mellitus (DM) is a common endocrine disease in domestic dogs. A number of pathological mechanisms are thought to contribute to the aetiopathogenesis of relative or absolute insulin deficiency, including immune-mediated destruction of pancreatic beta cells. DM...

Showing 25 to 36 of 176 entries