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Carl Ernst

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Articles 74
Citations 3062
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Recent Articles
11.
Ernst C, Jefri M
Trends Mol Med . 2021 Oct; 27(12):1106-1114. PMID: 34690045
Neurodevelopmental disorders (NDDs) affect about 1% of the population and can be caused by mutations in genes that affect the epigenetic code. There is limited functional understanding of most of...
12.
Bell S, McCarty V, Peng H, Jefri M, Hettige N, Antonyan L, et al.
Stem Cell Reports . 2021 Jul; 16(7):1749-1762. PMID: 34214487
Mutations in HPRT1, a gene encoding a rate-limiting enzyme for purine salvage, cause Lesch-Nyhan disease which is characterized by self-injury and motor impairments. We leveraged stem cell and genetic engineering...
13.
Bell S, Hettige N, Silveira H, Peng H, Wu H, Jefri M, et al.
Bio Protoc . 2021 Mar; 9(5):e3188. PMID: 33654990
Induced Pluripotent Stem Cells (iPSCs) are pluripotent stem cells that can be generated from somatic cells, and provide a way to model the development of neural tissues . One particularly...
14.
Lutz P, Chay M, Pacis A, Chen G, Aouabed Z, Maffioletti E, et al.
Nat Commun . 2021 Feb; 12(1):1132. PMID: 33602921
Early-life adversity (ELA) is a major predictor of psychopathology, and is thought to increase lifetime risk by epigenetically regulating the genome. Here, focusing on the lateral amygdala, a major brain...
15.
Vaillancourt K, Yang J, Chen G, Yerko V, Theroux J, Aouabed Z, et al.
Mol Psychiatry . 2020 Oct; 26(7):3134-3151. PMID: 33046833
Epigenetic mechanisms, like those involving DNA methylation, are thought to mediate the relationship between chronic cocaine dependence and molecular changes in addiction-related neurocircuitry, but have been understudied in human brain....
16.
Jefri M, Bell S, Peng H, Hettige N, Maussion G, Soubannier V, et al.
Stem Cells Transl Med . 2020 Mar; 9(6):697-712. PMID: 32154672
Making high-quality dopamine (DA)-producing cells for basic biological or small molecule screening studies is critical for the development of novel therapeutics for disorders of the ventral midbrain. Currently, many ventral...
17.
Ernst C
Stem Cells Transl Med . 2020 Feb; 9(5):567-574. PMID: 32052596
Stem and derivative cells induced from somatic tissues are a critical tool for disease modeling but significant technical hurdles hamper their use. The purpose of this review is to provide...
18.
Ponroy Bally B, Farmer W, Jones E, Jessa S, Kacerovsky J, Mayran A, et al.
Hum Mol Genet . 2020 Jan; 29(5):785-802. PMID: 31943018
Down syndrome (DS), caused by the triplication of human chromosome 21, leads to significant alterations in brain development and is a major genetic cause of intellectual disability. While much is...
19.
Hettige N, Ernst C
Front Pediatr . 2019 Dec; 7:482. PMID: 31824897
Brain development is a highly regulated process that involves the precise spatio-temporal activation of cell signaling cues. Transcription factors play an integral role in this process by relaying information from...
20.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux J, et al.
Am J Hum Genet . 2019 Apr; 104(5):815-834. PMID: 31031012
We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epileptic...