keyword
MENU ▼
Read by QxMD icon Read
search

ehmt1

keyword
https://www.readbyqxmd.com/read/27893464/the-h3k9-dimethyltransferases-ehmt1-2-protect-against-pathological-cardiac-hypertrophy
#1
Bernard Thienpont, Jan Magnus Aronsen, Emma Louise Robinson, Hanneke Okkenhaug, Elena Loche, Arianna Ferrini, Patrick Brien, Kanar Alkass, Antonio Tomasso, Asmita Agrawal, Olaf Bergmann, Ivar Sjaastad, Wolf Reik, Hywel Llewelyn Roderick
Cardiac hypertrophic growth in response to pathological cues is associated with reexpression of fetal genes and decreased cardiac function and is often a precursor to heart failure. In contrast, physiologically induced hypertrophy is adaptive, resulting in improved cardiac function. The processes that selectively induce these hypertrophic states are poorly understood. Here, we have profiled 2 repressive epigenetic marks, H3K9me2 and H3K27me3, which are involved in stable cellular differentiation, specifically in cardiomyocytes from physiologically and pathologically hypertrophied rat hearts, and correlated these marks with their associated transcriptomes...
November 28, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27891178/enrichment-of-small-pathogenic-deletions-at-chromosome-9p24-3-and-9q34-3-involving-dock8-kank1-ehmt1-genes-identified-by-using-high-resolution-oligonucleotide-single-nucleotide-polymorphism-array-analysis
#2
Jia-Chi Wang, Loretta W Mahon, Leslie P Ross, Arturo Anguiano, Renius Owen, Fatih Z Boyar
BACKGROUND: High-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions were frequently encountered at chromosome 9p and 9q terminal regions. RESULTS: A review of 531 cases with reportable copy number changes on chromosome 9 revealed142 pathogenic copy number variants (CNVs): 104 losses, 31 gains, 7 complex chromosomal rearrangements...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27789404/establishment-of-ehmt1-mutant-induced-pluripotent-stem-cell-ipsc-line-from-a-11-year-old-kleefstra-syndrome-ks-patient-with-autism-and-normal-intellectual-performance
#3
Eszter Varga, Csilla Nemes, Zsuzsanna Táncos, István Bock, Sára Berzsenyi, György Lévay, Viktor Román, Julianna Kobolák, András Dinnyés
Peripheral blood was collected from a clinically characterized female Kleefstra syndrome patient with a heterozygous, de novo, premature termination codon (PTC) mutation (NM_024757.4(EHMT1):c.3413G>A; p.Trp1138Ter). Peripheral blood mononuclear cells (PBMCs) were reprogrammed with the human OSKM transcription factors using the Sendai-virus (SeV) delivery system. The pluripotency of transgene-free iPSC line was verified by the expression of pluripotency-associated markers and by in vitro spontaneous differentiation towards the 3 germ layers...
October 2, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27767173/euchromatin-histone-methyltransferase-1-regulates-cortical-neuronal-network-development
#4
Marijn Bart Martens, Monica Frega, Jessica Classen, Lisa Epping, Elske Bijvank, Marco Benevento, Hans van Bokhoven, Paul Tiesinga, Dirk Schubert, Nael Nadif Kasri
Heterozygous mutations or deletions in the human Euchromatin histone methyltransferase 1 (EHMT1) gene cause Kleefstra syndrome, a neurodevelopmental disorder that is characterized by autistic-like features and severe intellectual disability (ID). Neurodevelopmental disorders including ID and autism may be related to deficits in activity-dependent wiring of brain circuits during development. Although Kleefstra syndrome has been associated with dendritic and synaptic defects in mice and Drosophila, little is known about the role of EHMT1 in the development of cortical neuronal networks...
October 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27752292/histone-modification-signature-at-myeloperoxidase-and-proteinase-3-in-patients-with-anti-neutrophil-cytoplasmic-autoantibody-associated-vasculitis
#5
Jiajin Yang, Heng Ge, Caroline J Poulton, Susan L Hogan, Yichun Hu, Britta E Jones, Candace D Henderson, Elizabeth A McInnis, William F Pendergraft, J Charles Jennette, Ronald J Falk, Dominic J Ciavatta
BACKGROUND: Anti-neutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis (AAV) is a systemic autoimmune disease characterized by destructive vascular inflammation. Two prominent ANCA autoantigens are myeloperoxidase (MPO) and proteinase 3 (PR3), and transcription of MPO and PRTN3, the genes encoding the autoantigens, is associated with disease activity. We investigated whether patients with AAV have alterations in histone modifications, particularly those associated with transcriptional activation, at MPO and PRTN3...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27651234/targeted-next-generation-sequencing-of-a-panel-of-autism-related-genes-identifies-an-ehmt1-mutation-in-a-kleefstra-syndrome-patient-with-autism-and-normal-intellectual-performance
#6
István Bock, Krisztina Németh, Klára Pentelényi, Péter Balicza, Anna Balázs, Mária Judit Molnár, Viktor Román, József Nagy, György Lévay, Julianna Kobolák, András Dinnyés
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with unknown genetic and environmental causation in most of the affected individuals. On the other hand, there are a growing number of ASD-associated syndromes, where the exact genetic origin can be revealed. Here we report a method, which included the targeted next generation sequencing (NGS) and filtering of 101 ASD associated genes, followed by database search. Next, RNA sequencing was used to study the region of interest at the transcriptional level...
September 17, 2016: Gene
https://www.readbyqxmd.com/read/27373831/histone-methylation-by-the-kleefstra-syndrome-protein-ehmt1-mediates-homeostatic-synaptic-scaling
#7
Marco Benevento, Giovanni Iacono, Martijn Selten, Wei Ba, Astrid Oudakker, Monica Frega, Jason Keller, Roberta Mancini, Elly Lewerissa, Tjitske Kleefstra, Henk G Stunnenberg, Huiqing Zhou, Hans van Bokhoven, Nael Nadif Kasri
Homeostatic plasticity, a form of synaptic plasticity, maintains the fine balance between overall excitation and inhibition in developing and mature neuronal networks. Although the synaptic mechanisms of homeostatic plasticity are well characterized, the associated transcriptional program remains poorly understood. We show that the Kleefstra-syndrome-associated protein EHMT1 plays a critical and cell-autonomous role in synaptic scaling by responding to attenuated neuronal firing or sensory drive. Chronic activity deprivation increased the amount of neuronal dimethylated H3 at lysine 9 (H3K9me2), the catalytic product of EHMT1 and an epigenetic marker for gene repression...
July 20, 2016: Neuron
https://www.readbyqxmd.com/read/27239352/multiple-coronary-artery-microfistulas-in-a-girl-with-kleefstra-syndrome
#8
Euthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, Georgia Gioula, Spyridon Gerou, Fotios Rouvalis, Marios Kambouris, Dimitrios I Zafeiriou
Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27123477/reversible-white-matter-lesions-associated-with-mutant-ehmt1-and-kleefstra-syndrome
#9
Xu He, Oana Caluseriu, Ratika Srivastava, Anne Marie Denny, Francois V Bolduc
Kleefstra syndrome (KS; OMIM #610253), formerly known as the 9q subtelomeric deletion syndrome, is an autosomal dominant cause of intellectual disability (ID) characterized by hypotonia and facial dysmorphisms.(1,2) The cause of KS is attributed to haploinsufficiency of the euchromatin histone methyltransferase 1 (EHMT1) gene (OMIM *607001) located at chromosome 9q34.3 (i.e., distal long arm of chromosome 9), either by microdeletion or point mutation. EHMT1 encodes a histone H3 methyltransferase at position Lys-9 (H3K9)...
April 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27113213/pathogenic-copy-number-variants-and-scn1a-mutations-in-patients-with-intellectual-disability-and-childhood-onset-epilepsy
#10
Andrew E Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada, Penny Blake, Glyn Jones, Sian Morgan, Sian Jose, Hood Mugalaasi, Hayley Archer, Emma McCann, Angus Clarke, Clare Taylor, Sally Davies, Frances Gibbon, Johann Te Water Naude, Louise Hartley, Gareth Thomas, Catharine White, Jaya Natarajan, Rhys H Thomas, Cheney Drew, Seo-Kyung Chung, Mark I Rees, Peter Holmans, Michael J Owen, George Kirov, Daniela T Pilz, Michael P Kerr
BACKGROUND: Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy. METHODS: We evaluated the range of rare CNVs found in 80 Welsh patients with ID or developmental delay (DD), and childhood-onset epilepsy. We performed molecular cytogenetic testing by single nucleotide polymorphism array or microarray-based comparative genome hybridisation...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27083448/differential-patterns-of-histone-methylase-ehmt2-and-its-catalyzed-histone-modifications-h3k9me1-and-h3k9me2-during-maturation-of-central-auditory-system
#11
Lena Ebbers, Karen Runge, Hans Gerd Nothwang
Histone methylation is an important epigenetic mark leading to changes in DNA accessibility and transcription. Here, we investigate immunoreactivity against the euchromatic histone-lysine N-methyltransferase EHMT2 and its catalyzed mono- and dimethylation marks at histone 3 lysine 9 (H3K9me1 and H3K9me2) during postnatal differentiation of the mouse central auditory system. In the brainstem, expression of EHMT2 was high in the first postnatal week and down-regulated thereafter. In contrast, immunoreactivity in the auditory cortex (AC) remained high during the first year of life...
August 2016: Cell and Tissue Research
https://www.readbyqxmd.com/read/27058611/de-novo-and-rare-variants-at-multiple-loci-support-the-oligogenic-origins-of-atrioventricular-septal-heart-defects
#12
James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, Vivek Nanda, Ramendra Kundu, Kathleen Schultz, Edward J Lammer, Santhosh Girirajan, Todd Scheetz, Daryl Waggott, Francois Haddad, Sushma Reddy, Daniel Bernstein, Trudy Burns, Jeffrey D Steimle, Xinan H Yang, Ivan P Moskowitz, Matthew Hurles, Richard P Lifton, Debbie Nickerson, Michael Bamshad, Evan E Eichler, Seema Mital, Val Sheffield, Thomas Quertermous, Bruce D Gelb, Michael Portman, Euan A Ashley
Congenital heart disease (CHD) has a complex genetic etiology, and recent studies suggest that high penetrance de novo mutations may account for only a small fraction of disease. In a multi-institutional cohort surveyed by exome sequencing, combining analysis of 987 individuals (discovery cohort of 59 affected trios and 59 control trios, and a replication cohort of 100 affected singletons and 533 unaffected singletons) we observe variation at novel and known loci related to a specific cardiac malformation the atrioventricular septal defect (AVSD)...
April 2016: PLoS Genetics
https://www.readbyqxmd.com/read/26993267/improving-diagnosis-and-broadening-the-phenotypes-in-early-onset-seizure-and-severe-developmental-delay-disorders-through-gene-panel-analysis
#13
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst, Lucy Jenkins, Manju A Kurian, Richard H Scott
BACKGROUND: We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. METHODS: In 400 patients with these disorders with no known underlying aetiology and no major structural brain anomaly, we analysed 46 genes using a combination of targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis. RESULTS: We identified causative mutations in 71/400 patients (18%)...
May 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26900692/characterization-of-a-complex-chromosomal-rearrangement-involving-a-de-novo-duplication-of-9p-and-9q-and-a-deletion-of-9q
#14
Mónica D Martín-De Saro, Juan M Valdés-Miranda, Lautaro Plaza-Benhumea, Adrián Pérez-Cabrera, Luz M Gonzalez-Huerta, Roberto Guevara-Yañez, Sergio A Cuevas-Covarrubias
Rearrangements of the distal region of 9p are important chromosome imbalances in human beings. Trisomy 9p is the fourth most frequent chromosome anomaly and is a clinically recognizable syndrome. Kleefstra syndrome, previously named 9q subtelomeric deletion syndrome, is either caused by a submicroscopic deletion in 9q34.3 or an intragenic mutation of EHMT1. We report a Mexican male patient with abnormal development, dysmorphism, systemic anomalies and a complex chromosomal rearrangement (CCR). GTG-banding revealed a 46,XY,add(9)(q34...
2015: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/26808425/a-structured-assessment-of-motor-function-and-behavior-in-patients-with-kleefstra-syndrome
#15
Susanne Schmidt, Heidi E Nag, Bente S Hunn, Gunnar Houge, Lise B Hoxmark
The present study aimed to further our understanding of Kleefstra syndrome, especially regarding motor function and behavioral characteristics. In total, four males and four females between two and 27 years of age with a genetically confirmed diagnosis of Kleefstra syndrome and their parents participated in this study. Four patients had 9q34.3 deletions that caused Euchromatin Histone Methyl Transferase 1 (EHMT1) haplo-insufficiency, and four patients harbored EHMT1 mutations. The motor function was evaluated via systematic observation...
April 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26792009/kleefstra-variant-syndrome-with-heterozygous-mutations-in-ehmt1-and-kcnq2-genes-a-case-report
#16
LETTER
Giovanna Marchese, Francesca Rizzo, Anna Guacci, Alessandro Weisz, Giangennaro Coppola
No abstract text is available yet for this article.
May 2016: Neurological Sciences
https://www.readbyqxmd.com/read/26764138/histone-acetylation-and-methylation-significantly-change-with-severity-of-atherosclerosis-in-human-carotid-plaques
#17
Anna Greißel, Mihaela Culmes, Rainer Burgkart, Alexander Zimmermann, Hans-Henning Eckstein, Alma Zernecke, Jaroslav Pelisek
BACKGROUND: The aim of the study was to analyze histone acetylation, methylation, and the expression of their corresponding transferases in atherosclerotic plaques of patients with carotid artery stenosis. METHODS: Atherosclerotic tissue from our biobank (n=80) was divided into various segments covering all plaque stages and classified according to the American Heart Association. The plaques were assigned to early (types I-III) or advanced (types V-VII) stage group of atherosclerosis...
March 2016: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/26568194/hypomethylation-of-tet2-target-genes-identifies-a-curable-subset-of-acute-myeloid-leukemia
#18
Jumpei Yamazaki, Rodolphe Taby, Jaroslav Jelinek, Noel J M Raynal, Matteo Cesaroni, Sherry A Pierce, Steven M Kornblau, Carlos E Bueso-Ramos, Farhad Ravandi, Hagop M Kantarjian, Jean-Pierre J Issa
BACKGROUND: Acute myeloid leukemia (AML) is curable in a subset of cases. The DNA methylation regulator TET2 is frequently mutated in AML, and we hypothesized that studying TET2-specific differentially methylated CpGs (tet2-DMCs) improves AML classification. METHODS: We used bisulfite pyrosequencing to analyze the methylation status of four tet2-DMCs (SP140, MCCC1, EHMT1, and MTSS1) in a test group of 94 consecutive patients and a validation group of 92 consecutive patients treated with cytarabine-based chemotherapy...
November 13, 2015: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/26320100/ehmt1-and-ehmt2-inhibition-induces-fetal-hemoglobin-expression
#19
Aline Renneville, Peter Van Galen, Matthew C Canver, Marie McConkey, John M Krill-Burger, David M Dorfman, Edward B Holson, Bradley E Bernstein, Stuart H Orkin, Daniel E Bauer, Benjamin L Ebert
Fetal hemoglobin (HbF, α2γ2) induction is a well-validated strategy for sickle cell disease (SCD) treatment. Using a small-molecule screen, we found that UNC0638, a selective inhibitor of EHMT1 and EHMT2 histone methyltransferases, induces γ-globin expression. EHMT1/2 catalyze mono- and dimethylation of lysine 9 on histone 3 (H3K9), raising the possibility that H3K9Me2, a repressive chromatin mark, plays a role in silencing γ-globin expression. In primary human adult erythroid cells, UNC0638 and EHMT1 or EHMT2 short hairpin RNA-mediated knockdown significantly increased γ-globin expression, HbF synthesis, and the percentage of cells expressing HbF...
October 15, 2015: Blood
https://www.readbyqxmd.com/read/26300989/dual-ezh2-and-ehmt2-histone-methyltransferase-inhibition-increases-biological-efficacy-in-breast-cancer-cells
#20
Edward Curry, Ian Green, Nadine Chapman-Rothe, Elham Shamsaei, Sarah Kandil, Fanny L Cherblanc, Luke Payne, Emma Bell, Thota Ganesh, Nitipol Srimongkolpithak, Joachim Caron, Fengling Li, Anthony G Uren, James P Snyder, Masoud Vedadi, Matthew J Fuchter, Robert Brown
BACKGROUND: Many cancers show aberrant silencing of gene expression and overexpression of histone methyltransferases. The histone methyltransferases (HKMT) EZH2 and EHMT2 maintain the repressive chromatin histone methylation marks H3K27me and H3K9me, respectively, which are associated with transcriptional silencing. Although selective HKMT inhibitors reduce levels of individual repressive marks, removal of H3K27me3 by specific EZH2 inhibitors, for instance, may not be sufficient for inducing the expression of genes with multiple repressive marks...
2015: Clinical Epigenetics
keyword
keyword
44678
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"