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Showing 13 to 24 of 146 entries
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Bacchus Listed for a Liver Transplant.

Anesthesiology

Hester DL.
PMID: 31205073
Anesthesiology. 2019 Nov;131(5):1192. doi: 10.1097/ALN.0000000000002844.

No abstract available.

Critical exponents for a self-interacting, directed polymer with adsorption.

Physical review. E, Statistical physics, plasmas, fluids, and related interdisciplinary topics

Foster DP.
PMID: 9960154
Phys Rev E Stat Phys Plasmas Fluids Relat Interdiscip Topics. 1993 Feb;47(2):1441-1444. doi: 10.1103/physreve.47.1441.

No abstract available.

Global organization of three-dimensional, volume-preserving flows: Constraints, degenerate points, and Lagrangian structure.

Chaos (Woodbury, N.Y.)

Ravu B, Metcalfe G, Rudman M, Lester DR, Khakhar DV.
PMID: 32237768
Chaos. 2020 Mar;30(3):033124. doi: 10.1063/1.5135333.

Global organization of three-dimensional (3D) Lagrangian chaotic transport is difficult to infer without extensive computation. For 3D time-periodic flows with one invariant, we show how constraints on deformation that arise from volume-preservation and periodic lines result in resonant degenerate...

A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome.

Heart rhythm

Bains S, Dotzler SM, Krijger C, Giudicessi JR, Ye D, Bikker H, Rohatgi RK, Tester DJ, Bos JM, Wilde AAM, Ackerman MJ.
PMID: 34798354
Heart Rhythm. 2021 Nov 17; doi: 10.1016/j.hrthm.2021.11.017. Epub 2021 Nov 17.

BACKGROUND: Pathogenic/likely pathogenic (P/LP) variants in the KCNQ1-encoded Kv7.1 potassium channel cause type 1 long QT syndrome (LQT1). Despite the revamped 2015 American College of Medical Genetics (ACMG) variant interpretation guidelines, the burden of KCNQ1 variants of uncertain significance...

Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R.

Channels (Austin, Tex.)

Hu RM, Song EJ, Tester DJ, Deschenes I, Ackerman MJ, Makielski JC, Tan BH.
PMID: 33535892
Channels (Austin). 2021 Dec;15(1):253-261. doi: 10.1080/19336950.2021.1875645.

No abstract available.

Suppression-Replacement .

Circulation

Dotzler SM, Kim CSJ, Gendron WAC, Zhou W, Ye D, Bos JM, Tester DJ, Barry MA, Ackerman MJ.
PMID: 33504163
Circulation. 2021 Apr 06;143(14):1411-1425. doi: 10.1161/CIRCULATIONAHA.120.051836. Epub 2021 Jan 28.

BACKGROUND: Type 1 long QT syndrome (LQT1) is caused by loss-of-function variants in the METHODS: A dual-component suppression-and-replacement (SupRep) RESULTS: In TSA201 cells, KCNQ1-SupRep achieved mutation-independent suppression of wild-type CONCLUSIONS: This study provides the first proof-of-principle gene therapy for...

A complicated presentation of pediatric COVID-19 with necrotizing pneumonia and pulmonary artery pseudoaneurysms.

Pediatric pulmonology

Akuamoah Boateng G, Ristagno EH, Levy E, Kahoud R, Thacker PG, Setter DO, Boesch RP, Demirel N.
PMID: 34499812
Pediatr Pulmonol. 2021 Dec;56(12):4042-4044. doi: 10.1002/ppul.25631. Epub 2021 Sep 09.

No abstract available.

Prevalence and potential genetic determinants of young sudden unexplained death victims with suspected arrhythmogenic mitral valve prolapse syndrome.

Heart rhythm O2

Giudicessi JR, Maleszewski JJ, Tester DJ, Ackerman MJ.
PMID: 34667957
Heart Rhythm O2. 2021 Jul 22;2(5):431-438. doi: 10.1016/j.hroo.2021.07.006. eCollection 2021 Oct.

BACKGROUND: Mitral valve prolapse (MVP) is largely considered a benign condition. However, MVP is over-represented consistently in sudden unexplained death in the young (SUDY) cohorts.OBJECTIVE: To determine the prevalence and potential genetic underpinnings of suspected arrhythmogenic MVP in a...

Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death.

Circulation. Genomic and precision medicine

Neves R, Tester DJ, Simpson MA, Behr ER, Ackerman MJ, Giudicessi JR.
PMID: 34949102
Circ Genom Precis Med. 2021 Dec 24;CIRCGEN121003497. doi: 10.1161/CIRCGEN.121.003497. Epub 2021 Dec 24.

BACKGROUND: Sudden cardiac arrest (SCA) and sudden unexplained death (SUD) are feared sequelae of many genetic heart diseases. In rare circumstances, pathogenic variants in cardiomyopathy-susceptibility genes may result in electrical instability leading to SCA/SUD before any structural manifestations of...

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca.

Proceedings of the National Academy of Sciences of the United States of America

Halvorsen M, Gould L, Wang X, Grant G, Moya R, Rabin R, Ackerman MJ, Tester DJ, Lin PT, Pappas JG, Maurano MT, Goldstein DB, Tsien RW, Devinsky O.
PMID: 34930847
Proc Natl Acad Sci U S A. 2021 Dec 28;118(52). doi: 10.1073/pnas.2115140118.

Sudden unexplained death in childhood (SUDC) is an understudied problem. Whole-exome sequence data from 124 "trios" (decedent child, living parents) was used to test for excessive de novo mutations (DNMs) in genes involved in cardiac arrhythmias, epilepsy, and other...

The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most.

Mayo Clinic proceedings

Ackerman JP, Bartos DC, Kapplinger JD, Tester DJ, Delisle BP, Ackerman MJ.
PMID: 27810088
Mayo Clin Proc. 2016 Oct 08; doi: 10.1016/j.mayocp.2016.08.008. Epub 2016 Oct 08.

We illustrate the work necessary to reverse course after identification of a KCNQ1 variant interpreted erroneously as causing long QT syndrome (LQTS) and to identify the true cause of a case of sudden death in the young. Surrogate genetic...

Fragmentation of tissue-resident macrophages during isolation confounds analysis of single-cell preparations from mouse hematopoietic tissues.

Cell reports

Millard SM, Heng O, Opperman KS, Sehgal A, Irvine KM, Kaur S, Sandrock CJ, Wu AC, Magor GW, Batoon L, Perkins AC, Noll JE, Zannettino ACW, Sester DP, Levesque JP, Hume DA, Raggatt LJ, Summers KM, Pettit AR.
PMID: 34818538
Cell Rep. 2021 Nov 23;37(8):110058. doi: 10.1016/j.celrep.2021.110058.

Mouse hematopoietic tissues contain abundant tissue-resident macrophages that support immunity, hematopoiesis, and bone homeostasis. A systematic strategy to characterize macrophage subsets in mouse bone marrow (BM), spleen, and lymph node unexpectedly reveals that macrophage surface marker staining emanates from...

Showing 13 to 24 of 146 entries