Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Jonathan K. Merritt"'
Autor:
Jonathan K. Merritt, Xiaolan Fang, Raymond C. Caylor, Steven A. Skinner, Michael J. Friez, Alan K. Percy, Jeffrey L. Neul
Publikováno v:
Genes, Vol 15, Iss 5, p 594 (2024)
Rett Syndrome (RTT) is a severe neurodevelopmental disorder predominately diagnosed in females and primarily caused by pathogenic variants in the X-linked gene Methyl-CpG Binding Protein 2 (MECP2). Most often, the disease causing the MECP2 allele res
Externí odkaz:
https://doaj.org/article/9e0f9768852e4acc95b6c77b7479669d
Autor:
Kirsty R. Erickson, Rebekah Farmer, Jonathan K. Merritt, Zeljka Miletic Lanaghan, Mark D. Does, Karthik Ramadass, Bennett A. Landman, Laurie E. Cutting, Jeffrey L. Neul
Publikováno v:
PLoS ONE, Vol 17, Iss 10 (2022)
FOXG1 Syndrome (FS) is a devastating neurodevelopmental disorder that is caused by a heterozygous loss-of-function (LOF) mutation of the FOXG1 gene, which encodes a transcriptional regulator important for telencephalic brain development. People with
Externí odkaz:
https://doaj.org/article/2fc499346f53440f8673c020b31d6747
Autor:
Kirsty R. Erickson, Rebekah Lifer, Jonathan K. Merritt, Zeljka Miletic Lanaghan, Mark D. Does, Karthik Ramadass, Bennett A. Landman, Laurie E. Cutting, Jeffrey L. Neul
FOXG1 Syndrome (FS) is a devastating neurodevelopmental disorder that is caused by a heterozygous loss-of-function (LOF) mutation of the FOXG1 gene, which encodes a transcriptional regulator important for telencephalic brain development. People with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d408a73ed2e9b4a4967836a5afe1030a
https://doi.org/10.1101/2022.03.29.486318
https://doi.org/10.1101/2022.03.29.486318
Publikováno v:
Genes Brain Behav
Rett syndrome is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in MECP2, encoding transcriptional modulator methyl-CpG-binding protein 2 (MeCP2). Though no disease-modifying therapies exist at this time, some propos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd4c501eaa53f7dff11cb52ca5a2434d
https://europepmc.org/articles/PMC8563491/
https://europepmc.org/articles/PMC8563491/
Publikováno v:
Hum Mol Genet
Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). More than 35% of affected individuals have nonsense mutations in MECP2. For these individuals, nonsense suppression has been s
Autor:
Sarika U. Peters, Peter Heydemann, Jonathan K. Merritt, Steven A. Skinner, David N. Lieberman, Timothy Feyma, Walter E. Kaufmann, Bernhard Suter, Daniel G. Glaze, Shannon M. Standridge, Jeffrey L. Neul, Mary Jones, Tim A. Benke, Alan K. Percy, Eric D. Marsh, Robin C. C. Ryther
Mutations in the X-linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome (RTT), primarily in girls. It had been suspected that mutations in Methyl-CpG-binding protein 2 (MECP2) led to embryonic lethality in males,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d9b8354b1623ea3ee531cf6716c2568
https://europepmc.org/articles/PMC6488031/
https://europepmc.org/articles/PMC6488031/
Autor:
Hong-Wei Dong, Jessica R. Lee, Kirsty R Erickson, Jeffrey L. Neul, Jonathan K. Merritt, Cary Fu
Publikováno v:
Neurobiology of disease
Neurobiology of Disease, Vol 145, Iss, Pp 105083-(2020)
Neurobiology of Disease, Vol 145, Iss, Pp 105083-(2020)
Rett syndrome (RTT) is a severe neurodevelopmental disorder (NDD) that is nearly always caused by loss of function mutations in Methyl-CpG-binding Protein 2 (MECP2) and shares many clinical features with other NDD. Genetic restoration of Mecp2 in sym
Autor:
Jeffrey L. Neul, Shelly A. Buffington, Mauro Costa-Mattioli, Jonathan K. Merritt, Amanda R. Fisher, José A. Herrera, Meagan R. Pitcher, N. Carolyn Schanen, Mikhail Y. Kochukov
Publikováno v:
Human Molecular Genetics. 24:2662-2672
Rett syndrome (RTT) is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are responsible for over 3
Autor:
Daniel, Petras, Louis-Félix, Nothias, Robert A, Quinn, Theodore, Alexandrov, Nuno, Bandeira, Amina, Bouslimani, Gabriel, Castro-Falcón, Liangyu, Chen, Tam, Dang, Dimitrios J, Floros, Vivian, Hook, Neha, Garg, Nicole, Hoffner, Yike, Jiang, Clifford A, Kapono, Irina, Koester, Rob, Knight, Christopher A, Leber, Tie-Jun, Ling, Tal, Luzzatto-Knaan, Laura-Isobel, McCall, Aaron P, McGrath, Michael J, Meehan, Jonathan K, Merritt, Robert H, Mills, Jamie, Morton, Sonia, Podvin, Ivan, Protsyuk, Trevor, Purdy, Kendall, Satterfield, Stephen, Searles, Sahil, Shah, Sarah, Shires, Dana, Steffen, Margot, White, Jelena, Todoric, Robert, Tuttle, Aneta, Wojnicz, Valerie, Sapp, Fernando, Vargas, Jin, Yang, Chao, Zhang, Pieter C, Dorrestein
Publikováno v:
Analytical chemistry, vol 88, iss 22
Analytical Chemistry
Analytical Chemistry
The cars we drive, the homes we live in, the restaurants we visit, and the labs and offices we work in are all a part of the modern human habitat. Remarkably, little is known about the chemistry of such environments and how our own chemistries influe
Autor:
Merritt, Jonathan K., Fang, Xiaolan, Caylor, Raymond C., Skinner, Steven A., Friez, Michael J., Percy, Alan K., Neul, Jeffrey L.
Publikováno v:
Genes; May2024, Vol. 15 Issue 5, p594, 14p