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Louise C. Pyle, Ph.D.

Affiliations: 
2009 Genetics University of Alabama, Birmingham, Birmingham, AL, United States 
Area:
Genetics
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"Louise Pyle"
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Eric J. Sorscher grad student 2009 UAB
 (Cystic fibrosis transmembrane conductance regulator (CFTR) modulators and their mechanistic basis: Relevance to emerging therapies for cystic fibrosis.)

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Publications

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Powers J, Pinto EM, Barnoud T, et al. (2020) A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers. Cancer Research
Hughes JJ, Alkhunaizi E, Kruszka P, et al. (2019) Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. American Journal of Human Genetics
AlDubayan SH, Pyle LC, Gamulin M, et al. (2019) Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors. Jama Oncology
Pyle LC, Pluta J, Nead KT, et al. (2019) Abstract 2684: Identification of 14 novel genetic loci for testicular germ cell tumor susceptibility Cancer Research. 79: 2684-2684
Shen H, Shih J, Hollern DP, et al. (2018) Integrated Molecular Characterization of Testicular Germ Cell Tumors. Cell Reports. 23: 3392-3406
Pinz H, Pyle LC, Li D, et al. (2018) 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
Pyle LC, Nathanson KL. (2017) 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
Pyle LC, Nathanson KL. (2016) Genetic changes associated with testicular cancer susceptibility. Seminars in Oncology. 43: 575-581
Ehrhardt A, Chung WJ, Pyle LC, et al. (2015) Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop. The Journal of Biological Chemistry
Pyle LC, Ehrhardt A, Mitchell LH, et al. (2011) Regulatory domain phosphorylation to distinguish the mechanistic basis underlying acute CFTR modulators. American Journal of Physiology. Lung Cellular and Molecular Physiology. 301: L587-97
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