Search Results - "Chrast, Jacqueline"
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Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)
Published in Nature communications (17-08-2016)“…Long non-coding RNAs (lncRNAs) constitute a large, yet mostly uncharacterized fraction of the mammalian transcriptome. Such characterization requires a…”
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2
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models
Published in PLoS biology (01-11-2010)“…A large fraction of genome variation between individuals is comprised of submicroscopic copy number variation of genomic DNA segments. We assessed the relative…”
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3
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions
Published in Genome Research (01-06-2007)“…This report presents systematic empirical annotation of transcript products from 399 annotated protein-coding loci across the 1% of the human genome targeted…”
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4
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome
Published in Genome research (01-09-2012)“…Within the ENCODE Consortium, GENCODE aimed to accurately annotate all protein-coding genes, pseudogenes, and noncoding transcribed loci in the human genome…”
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5
Copy number variation modifies expression time courses
Published in Genome research (01-01-2011)“…A preliminary understanding into the phenotypic effect of DNA segment copy number variation (CNV) is emerging. These rearrangements were demonstrated to…”
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6
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome
Published in Human molecular genetics (15-08-2008)“…The Potocki-Lupski syndrome (PTLS) is associated with a microduplication of 17p11.2. Clinical features include multiple congenital and neurobehavioral…”
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Chronic phospholamban inhibition prevents progressive cardiac dysfunction and pathological remodeling after infarction in rats
Published in The Journal of clinical investigation (01-03-2004)“…Ablation or inhibition of phospholamban (PLN) has favorable effects in several genetic murine dilated cardiomyopathies, and we showed previously that a…”
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Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
Published in Npj genomic medicine (24-05-2023)Get full text
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GENCODE: producing a reference annotation for ENCODE
Published in Genome biology (01-01-2006)“…The GENCODE consortium was formed to identify and map all protein-coding genes within the ENCODE regions. This was achieved by a combination of initial manual…”
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10
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
Published in Npj genomic medicine (17-06-2022)“…Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and…”
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11
Comparison of contraction and calcium handling between right and left ventricular myocytes from adult mouse heart: a role for repolarization waveform
Published in The Journal of physiology (01-02-2006)“…In the mammalian heart, the right ventricle (RV) has a distinct structural and electrophysiological profile compared to the left ventricle (LV). However, the…”
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12
Chronic phospholamban inhibition prevents progressive cardiac dysfunction and pathological remodeling after infarction in rats
Published in The Journal of clinical investigation (01-03-2004)“…Ablation or inhibition of phospholamban (PLN) has favorable effects in several genetic murine dilated cardiomyopathies, and we showed previously that a…”
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13
Angiotensin II Induces Skeletal Muscle Wasting through Enhanced Protein Degradation and Down-Regulates Autocrine Insulin-Like Growth Factor I
Published in Endocrinology (Philadelphia) (01-04-2001)“…Abstract We previously showed that angiotensin II (ang II) infusion in the rat produces cachexia and decreases circulating insulin-like growth factor I…”
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14
GENCODE reference annotation for the human and mouse genomes
Published in Nucleic acids research (08-01-2019)“…Abstract The accurate identification and description of the genes in the human and mouse genomes is a fundamental requirement for high quality analysis of data…”
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Angiotensin II Stimulates Gene Expression of Cardiac Insulin-Like Growth Factor I and Its Receptor Through Effects on Blood Pressure and Food Intake
Published in Hypertension (Dallas, Tex. 1979) (01-11-1999)“…Angiotensin II (Ang II) is known to act as a growth factor and may be involved in cardiac remodeling. We have shown that insulin-like growth factor-I (IGF-I)…”
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16
Landscape of transcription in human cells
Published in Nature (London) (06-09-2012)“…Eukaryotic cells make many types of primary and processed RNAs that are found either in specific subcellular compartments or throughout the cells. A complete…”
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GENCODE: the reference human genome annotation for The ENCODE Project
Published in Genome research (01-09-2012)“…The GENCODE Consortium aims to identify all gene features in the human genome using a combination of computational analysis, manual annotation, and…”
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18
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Published in American journal of human genetics (04-02-2021)“…Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or…”
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19
Low number of fixed somatic mutations in a long-lived oak tree
Published in Nature plants (01-12-2017)“…Because plants do not possess a defined germline, deleterious somatic mutations can be passed to gametes, and a large number of cell divisions separating…”
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TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease
Published in Human mutation (01-04-2014)“…ABSTRACT TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth. Mutations in TBC1D7 were reported in a family with…”
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