Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Erik A. Koppes"'
Autor:
Erik A. Koppes, Bethany K. Redel, Marie A. Johnson, Kristen J. Skvorak, Lina Ghaloul-Gonzalez, Megan E. Yates, Dale W. Lewis, Susanne M. Gollin, Yijen L. Wu, Shawn E. Christ, Martine Yerle, Angela Leshinski, Lee D. Spate, Joshua A. Benne, Stephanie L. Murphy, Melissa S. Samuel, Eric M. Walters, Sarah A. Hansen, Kevin D. Wells, Uta Lichter-Konecki, Robert A. Wagner, Joseph T. Newsome, Steven F. Dobrowolski, Jerry Vockley, Randall S. Prather, Robert D. Nicholls
Publikováno v:
JCI Insight, Vol 5, Iss 20 (2020)
Phenylalanine hydroxylase–deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most deleteri
Externí odkaz:
https://doaj.org/article/25a4c7bc5404441d96bc2b097f4c68db
Autor:
Erik A Koppes, Marie A Johnson, James J Moresco, Patrizia Luppi, Dale W Lewis, Donna B Stolz, Jolene K Diedrich, John R Yates, Ronald C Wek, Simon C Watkins, Susanne M Gollin, Hyun Jung Park, Peter Drain, Robert D Nicholls
Publikováno v:
PLoS Genetics, Vol 19, Iss 4, p e1010710 (2023)
Prader-Willi syndrome (PWS) is a multisystem disorder with neurobehavioral, metabolic, and hormonal phenotypes, caused by loss of expression of a paternally-expressed imprinted gene cluster. Prior evidence from a PWS mouse model identified abnormal p
Externí odkaz:
https://doaj.org/article/511e07a3ded143c49933e62d23762e4c
Autor:
Olivia M. D'Annibale, Erik A. Koppes, Meena Sethuraman, Kaitlyn Bloom, Al‐Walid Mohsen, Jerry Vockley
Publikováno v:
J Inherit Metab Dis
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disease resulting from mutations in the ACADVL gene and is among the disorders tested for in newborn screening (NBS). Confirmatory sequencing following suspected VLC
Autor:
Erik A. Koppes, Marie A. Johnson, James J. Moresco, Patrizia Luppi, Dale W. Lewis, Donna B. Stolz, Jolene K. Diedrich, John R. Yates, Ronald C. Wek, Simon C. Watkins, Susanne M. Gollin, Hyun Jung Park, Peter Drain, Robert D. Nicholls
Prader-Willi syndrome (PWS) is a multisystem disorder with neurobehavioral, metabolic, and hormonal phenotypes, caused by loss of expression of a paternally-expressed imprinted gene cluster. Prior evidence from a PWS mouse model identified abnormal p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12173a833835d312e7baabd24c65a6d6
https://doi.org/10.1101/2021.12.16.473032
https://doi.org/10.1101/2021.12.16.473032
Autor:
Erik A. Koppes, Jerry Vockley, Al-Walid Mohsen, Catherine Kochersperger, Olivia M. D'Annibale, Anuradha Karunanidhi, Ahmad N. Alodaib
Publikováno v:
Mol Genet Metab
Introduction Clinical standard of care for newborn screening (NBS) is acylcarnitine metabolites quantitation by tandem mass spectrometry (MS/MS) from dried blood spots. Follow up sequencing often results in identification of one or more variants of u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49fb2d76cfb6d9618f714b418147a7a9
https://europepmc.org/articles/PMC8578405/
https://europepmc.org/articles/PMC8578405/
Autor:
Robert Wagner, Kevin D. Wells, Steven F. Dobrowolski, Susanne M. Gollin, Robert D. Nicholls, Yijen L. Wu, Marie A. Johnson, Eric M. Walters, Erik A. Koppes, Sarah A. Hansen, M Yerle, Shawn E. Christ, Dale W. Lewis, Melissa Samuel, Joseph T. Newsome, Kristen J. Skvorak, Megan E. Yates, Lina Ghaloul-Gonzalez, Randall S. Prather, Uta Lichter-Konecki, Stephanie L. Murphy, Lee D. Spate, Joshua A. Benne, Jerry Vockley, Bethany K. Redel, Angela Leshinski
Publikováno v:
JCI Insight
JCI Insight, American Society for Clinical Investigation, 2020, 5 (20), ⟨10.1172/jci.insight.141523⟩
JCI Insight, Vol 5, Iss 20 (2020)
JCI Insight, American Society for Clinical Investigation, 2020, 5 (20), ⟨10.1172/jci.insight.141523⟩
JCI Insight, Vol 5, Iss 20 (2020)
Phenylalanine hydroxylase–deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most deleteri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85254df3b5697eb1b6ace05dcedc976c
https://hal.inrae.fr/hal-03158896
https://hal.inrae.fr/hal-03158896
Autor:
Erik A. Koppes, Elena Sadovsky, Katherine P. Himes, J. Richard Chaillet, Yoel Sadovsky, Ben Shaffer, Yaacov Barak
Publikováno v:
Placenta
Introduction Imprinted genes are preferentially expressed from one parentally inherited allele, and many are crucial to the regulation of placental function and fetal growth. Murine Kruppel-like factor 14 (Klf14) is a maternally expressed imprinted t
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 8, p e0135202 (2015)
PLoS ONE, Vol 10, Iss 8, p e0135202 (2015)
Mutations in imprinted genes or their imprint control regions (ICRs) produce changes in imprinted gene expression and distinct abnormalities in placental structure, indicating the importance of genomic imprinting to placental development. We have rec
Autor:
Erik A. Koppes, Yoel Sadovsky, Katherine P. Himes, Donna B. Stolz, Yaacov Barak, Alexandria N. Young, J. R. Chaillet
Publikováno v:
Placenta. 36(4)
Monoallelic expression of imprinted genes is necessary for placental development and normal fetal growth. Differentially methylated domains (DMDs) largely determine the parental-specific monoallelic expression of imprinted genes. Maternally derived D
Publikováno v:
Developmental biology. 373(1)
Monoallelic expression of imprinted genes, including ones solely expressed in the placenta, is essential for normal placental development and fetal growth. To better understand the role of placental imprinting in placental development and fetal growt