Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Kevin E. Glinton"'
Autor:
Kevin E. Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P. Mackay, Kirt A. Martin, Phillip L. Pearl, K. Michael Gibson, Theresa A. Wilson, V. Reid Sutton, Sarah H. Elsea
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence o
Externí odkaz:
https://doaj.org/article/29eec710b9ad4cdf9ea448935aba96f4
Autor:
Peter Müller, Danielle S. Takacs, Ulrike B. S. Hedrich, Rohini Coorg, Laura Masters, Kevin E. Glinton, Hongzheng Dai, Jon A. Cokley, James J. Riviello, Holger Lerche, Edward C. Cooper
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 4, Pp 656-663 (2023)
Abstract Precision medicine for Mendelian epilepsy is rapidly developing. We describe an early infant with severely pharmacoresistant multifocal epilepsy. Exome sequencing revealed the de novo variant p.(Leu296Phe) in the gene KCNA1, encoding the vol
Externí odkaz:
https://doaj.org/article/3e01a3140cb74934be0643625cd200a3
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 18, Iss , Pp 14-18 (2019)
Urocanic aciduria is caused by a deficiency in the enzyme urocanase (E.C. 4.2.1.49) encoded by the gene UROC1. In the past, deficiency of urocanase has been associated with intellectual disability in a few case studies with some suggestion that the e
Externí odkaz:
https://doaj.org/article/d383456f1d174c2d8e2911a232af1490
Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis
Autor:
Sofia Milosavljevic, Kevin E. Glinton, Xiqi Li, Cláudia Medeiros, Patrick Gillespie, John R. Seavitt, Brett H. Graham, Sarah H. Elsea
Publikováno v:
Metabolites, Vol 12, Iss 4, p 351 (2022)
Though biallelic variants in SLC13A5 are known to cause severe encephalopathy, the mechanism of this disease is poorly understood. SLC13A5 protein deficiency reduces citrate transport into the cell. Downstream abnormalities in fatty acid synthesis an
Externí odkaz:
https://doaj.org/article/e32e6342040b41ca94d5665fb28d87e4
Autor:
Kevin E. Glinton, Sarah H. Elsea
Publikováno v:
Frontiers in Psychiatry, Vol 10 (2019)
Autism spectrum disorders (ASDs) are a group of neurodevelopment disorders characterized by childhood onset deficits in social communication and interaction. Although the exact etiology of most cases of ASDs is unknown, a portion has been proposed to
Externí odkaz:
https://doaj.org/article/06d9d103dd0a4a5dbab91e7eebc1c165
Publikováno v:
Current Opinion in Pediatrics. 34:559-564
To present new therapeutic modalities for inborn errors of metabolism that are in clinical trials or recently approved by the US Food and Drug Administration (FDA) and to improve pediatricians' understanding of therapies their patients with inborn er
Autor:
Christina Y. Miyake, Erica J. Lay, Claudia Soler-Alfonso, Kevin E. Glinton, Kimberly M. Houck, Mustafa Tosur, Nancy E. Moran, Sara B. Stephens, Fernando Scaglia, Taylor S. Howard, Jeffrey J. Kim, Tam Dam Pham, Santiago O. Valdes, Na Li, Chaya N. Murali, Lilei Zhang, Maina Kava, Deane Yim, Cheyenne Beach, Gregory Webster, Leonardo Liberman, Christopher M. Janson, Prince J. Kannankeril, Samantha Baxter, Moriel Singer-Berk, Jordan Wood, Samuel J. Mackenzie, Michael Sacher, Lina Ghaloul-Gonzalez, Claudia Pedroza, Shaine A. Morris, Saad A. Ehsan, Mahshid S. Azamian, Seema R. Lalani
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. The purpose of th
Autor:
Charul Gijavanekar, Kevin E. Glinton, Kirt A. Martin, Theresa A. Wilson, Vernon R. Sutton, Sarah H. Elsea
Publikováno v:
Molecular Genetics and Metabolism. 138:107415
Autor:
Christina Y. Miyake, Erica J. Lay, Cheyenne M. Beach, Scott R. Ceresnak, Caridad M. Delauz, Taylor S. Howard, Christopher M. Janson, Kate Jardine, Prince J. Kannankeril, Maina Kava, Jeffrey J. Kim, Leonardo Liberman, Scott L. Macicek, Tam Dam Pham, Terry Robertson, Santiago O. Valdes, Gregory Webster, Sara B. Stephens, Diana M. Milewicz, Mahshid Azamian, Saad A. Ehsan, Kimberly M. Houck, Claudia Soler-Alfonso, Kevin E. Glinton, Mustafa Tosur, Na Li, Weiyi Xu, Seema R. Lalani, Lilei Zhang
Publikováno v:
Heart rhythm. 19(10)
TANGO2 deficiency disorder (TDD) is an autosomal recessive disease associated with metabolic crisis, lethal cardiac arrhythmias, and cardiomyopathy. Data regarding treatment, management, and outcomes of cardiac manifestations of TDD are lacking.The p
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(3)
Purpose In 2011, we introduced an innovative parallel curriculum at Baylor College of Medicine, formerly called the Genetics Track Curriculum and now called the Genetics and Genomics Pathway, aimed at providing an opportunity for an enriched educatio