Megan S. Kane, Ph.D.

Institution:
Johns Hopkins University, Baltimore, MD
Area:
s.cerevisiae, membrane biology, ABC transporters, protein degradation mechanisms
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"Megan Kane"
Mean distance: 21373.2 (cluster 53)
 

Parents

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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
Gall T, Valkanas E, Bello C, et al. (2017) Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. Frontiers in Medicine. 4: 62
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
Leman G, Gueguen N, Desquiret-Dumas V, et al. (2015) Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. The International Journal of Biochemistry & Cell Biology. 65: 91-103
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