Articles with "syndrome critical" as a keyword



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Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression

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Published in 2018 at "Cell reports"

DOI: 10.1016/j.celrep.2018.10.061

Abstract: SUMMARY Down syndrome (DS, trisomy 21) is associated with developmental abnormalities and increased leukemia risk. To reconcile chromatin alterations with transcriptome changes, we performed paired exogenous spike-in normalized RNA and chromatin immunoprecipitation sequencing in DS… read more here.

Keywords: syndrome critical; overexpression; trisomy syndrome; hmgn1 ... See more keywords
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The genetic architecture of long QT syndrome: A critical reappraisal.

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Published in 2018 at "Trends in cardiovascular medicine"

DOI: 10.1016/j.tcm.2018.03.003

Abstract: Collectively, the completion of the Human Genome Project and subsequent development of high-throughput next-generation sequencing methodologies have revolutionized genomic research. However, the rapid sequencing and analysis of thousands upon thousands of human exomes and genomes… read more here.

Keywords: syndrome critical; long syndrome; architecture long; critical reappraisal ... See more keywords
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[Microbiota and irritable bowel syndrome: A critical inventory].

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Published in 2019 at "Zeitschrift fur Gastroenterologie"

DOI: 10.1055/a-0901-2558

Abstract: This narrative review critically explores the role of the gut microbiota in functional bowel disorders of IBS-type. Starting with changes in the microbiota composition and diversity, as they have been often found in correlative IBS… read more here.

Keywords: syndrome critical; bowel; microbiota; irritable bowel ... See more keywords
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Overexpression of Drosha, DiGeorge syndrome critical region gene 8 (DGCR8), and Dicer mRNAs in the pathogenesis of psoriasis

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Published in 2017 at "Journal of Cosmetic Dermatology"

DOI: 10.1111/jocd.12336

Abstract: Psoriasis is a complex autoimmune inflammatory disease that occurs in genetically susceptible individuals and presents with the development of inflammatory plaques on the skin. Recent studies have indicated that microRNAs (miRNAs) play important roles in… read more here.

Keywords: syndrome critical; drosha digeorge; critical region; psoriasis ... See more keywords
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Down Syndrome Critical Region 1 Gene, Rcan1, Helps Maintain a More Fused Mitochondrial Network

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Published in 2018 at "Circulation Research"

DOI: 10.1161/circresaha.117.311522

Abstract: Rationale: The regulator of calcineurin 1 (RCAN1) inhibits CN (calcineurin), a Ca2+-activated protein phosphatase important in cardiac remodeling. In humans, RCAN1 is located on chromosome 21 in proximity to the Down syndrome critical region. The… read more here.

Keywords: rcan1; syndrome critical; mitochondrial network; critical region ... See more keywords