Louise C. Pyle, Ph.D. - Publications

Affiliations: 
2009 Genetics University of Alabama, Birmingham, Birmingham, AL, United States 
Area:
Genetics

12 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Powers J, Pinto EM, Barnoud T, Leung JC, Martynyuk T, Kossenkov AV, Phillips AH, Desai H, Hausler R, Kelly G, Le AN, Li MM, MacFarland SP, Pyle LC, Zelley K, et al. A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers. Cancer Research. PMID 32675277 DOI: 10.1158/0008-5472.Can-20-1390  0.326
2019 Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, et al. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. American Journal of Human Genetics. PMID 31883643 DOI: 10.1016/J.Ajhg.2019.12.004  0.337
2019 AlDubayan SH, Pyle LC, Gamulin M, Kulis T, Moore ND, Taylor-Weiner A, Hamid AA, Reardon B, Wubbenhorst B, Godse R, Vaughn DJ, Jacobs LA, Meien S, Grgic M, Kastelan Z, et al. Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors. Jama Oncology. PMID 30676620 DOI: 10.1001/Jamaoncol.2018.6477  0.306
2019 Pyle LC, Pluta J, Nead KT, Mitra N, Benitez J, Bishop DT, Cortessis V, Ferlin A, Gietema J, Greene M, Grotmol T, Gupta R, Hamilton R, Hildebrandt MA, Haugen TB, et al. Abstract 2684: Identification of 14 novel genetic loci for testicular germ cell tumor susceptibility Cancer Research. 79: 2684-2684. DOI: 10.1158/1538-7445.Am2019-2684  0.352
2018 Shen H, Shih J, Hollern DP, Wang L, Bowlby R, Tickoo SK, Thorsson V, Mungall AJ, Newton Y, Hegde AM, Armenia J, Sánchez-Vega F, Pluta J, Pyle LC, Mehra R, et al. Integrated Molecular Characterization of Testicular Germ Cell Tumors. Cell Reports. 23: 3392-3406. PMID 29898407 DOI: 10.1016/J.Celrep.2018.05.039  0.31
2018 Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ. De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. American Journal of Medical Genetics. Part A. PMID 29446546 DOI: 10.1002/Ajmg.A.38620  0.309
2017 Pyle LC, Nathanson KL. A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 28544305 DOI: 10.1002/Ajmg.C.31562  0.301
2016 Pyle LC, Nathanson KL. Genetic changes associated with testicular cancer susceptibility. Seminars in Oncology. 43: 575-581. PMID 27899190 DOI: 10.1053/J.Seminoncol.2016.08.004  0.338
2015 Ehrhardt A, Chung WJ, Pyle LC, Wang W, Nowotarski K, Mulvihill CM, Ramjeesingh M, Hong J, Velu SE, Lewis HA, Atwell S, Aller S, Bear CE, Lukacs GL, Kirk KL, et al. Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop. The Journal of Biological Chemistry. PMID 26627831 DOI: 10.1074/Jbc.M115.704809  0.505
2011 Pyle LC, Ehrhardt A, Mitchell LH, Fan L, Ren A, Naren AP, Li Y, Clancy JP, Bolger GB, Sorscher EJ, Rowe SM. Regulatory domain phosphorylation to distinguish the mechanistic basis underlying acute CFTR modulators. American Journal of Physiology. Lung Cellular and Molecular Physiology. 301: L587-97. PMID 21724857 DOI: 10.1152/Ajplung.00465.2010  0.513
2010 Rowe SM, Pyle LC, Jurkevante A, Varga K, Collawn J, Sloane PA, Woodworth B, Mazur M, Fulton J, Fan L, Li Y, Fortenberry J, Sorscher EJ, Clancy JP. DeltaF508 CFTR processing correction and activity in polarized airway and non-airway cell monolayers. Pulmonary Pharmacology & Therapeutics. 23: 268-78. PMID 20226262 DOI: 10.1016/J.Pupt.2010.02.001  0.519
2010 Pyle LC, Fulton JC, Sloane PA, Backer K, Mazur M, Prasain J, Barnes S, Clancy JP, Rowe SM. Activation of the cystic fibrosis transmembrane conductance regulator by the flavonoid quercetin: potential use as a biomarker of ΔF508 cystic fibrosis transmembrane conductance regulator rescue. American Journal of Respiratory Cell and Molecular Biology. 43: 607-16. PMID 20042712 DOI: 10.1165/Rcmb.2009-0281Oc  0.403
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