Megan S. Kane, Ph.D.
Institution:
Johns Hopkins University, Baltimore, MDArea:
s.cerevisiae, membrane biology, ABC transporters, protein degradation mechanismsGoogle:
"Megan Kane"Mean distance: 21373.2 (cluster 53)
Parents
Sign in to add mentor| Susan Michaelis | grad student | 2013 | Johns Hopkins | |
| (Molecular analysis of LMNA mutations in progeria and related premature aging diseases.) | ||||
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Publications
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| Kane MS, Zhao J, Muskett J, et al. (2019) EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Neuropediatrics |
| Kane MS, Diamonstein CJ, Hauser N, et al. (2019) Endosomal trafficking defects in patient cells with biallelic variants. Genes & Diseases. 6: 56-67 |
| Davids M, Kane MS, Wolfe LA, et al. (2018) Glycomics in rare diseases: from diagnosis to mechanism. Translational Research : the Journal of Laboratory and Clinical Medicine |
| Pavey AR, Bodian DL, Vilboux T, et al. (2017) Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Kane MS, Davids M, Bond MR, et al. (2017) Abnormal glycosylation in Joubert syndrome type 10. Cilia. 6: 2 |
| Kane MS, Vilboux T, Wolfe LA, et al. (2016) Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. Brain : a Journal of Neurology |
| Kane MS, Davids M, Adams C, et al. (2016) Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. American Journal of Human Genetics |
| Davids M, Kane MS, He M, et al. (2015) Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Journal of Medical Genetics |
| Lam C, Golas GA, Davids M, et al. (2015) Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Molecular Genetics and Metabolism. 115: 128-40 |
| Trehan A, Brady JM, Maduro V, et al. (2015) MED23-associated intellectual disability in a non-consanguineous family. American Journal of Medical Genetics. Part A. 167: 1374-80 |