Results 291 to 300 of about 208,041 (335)

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori, Steven Estes, Swetha Ramadesikan, Betsy Schmalz, Shayne Plourde, Maria E. Hernandez Gonzalez, Anthony R. Miller, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +9 more
wiley   +1 more source

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3

Animal Models and Experimental Medicine, EarlyView.
Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry, Harsimran Sidhu, Maude Lévesque, Dominique Lévesque, Jean‐François Jacques, Otman Sarrhini, Jean‐François Beaudoin, Molly Caron, Brenda Gaudette, Roger Lecomte, Xavier Roucou, François‐Michel Boisvert, Jean‐Philippe Brosseau   +12 more
wiley   +1 more source

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RNA decay machines: The exosome

Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 2013
The multisubunit RNA exosome complex is a major ribonuclease of eukaryotic cells that participates in the processing, quality control and degradation of virtually all classes of RNA in Eukaryota. All this is achieved by about a dozen proteins with only three ribonuclease activities between them.
Aleksander Chlebowski, Michal Lubas, Michal Lubas, Michal Lubas, Andrzej Dziembowski, Andrzej Dziembowski, Torben Heick Jensen   +6 more
openaire   +3 more sources

Messenger RNA decay and protection

Journal of Molecular Biology, 1964
The decay of messenger RNA in Bacillus subtilis has been studied under a variety of conditions which interfere with protein synthesis. Changes in the growth rate produced by altering the medium do not affect the proportion of messenger relative to total RNA.
Akiko Higa, Cyrus Levinthal, David P. Fan   +2 more
openaire   +3 more sources

RNA processing and decay in plastids

WIREs RNA, 2013
AbstractPlastids were derived through endosymbiosis from a cyanobacterial ancestor, whose uptake was followed by massive gene transfer to the nucleus, resulting in the compact size and modest coding capacity of the extant plastid genome. Plastid gene expression is essential for plant development, but depends on nucleus‐encoded proteins recruited from ...
Alice Barkan, David B. Stern, Arnaud Germain, Amber M. Hotto   +3 more
openaire   +3 more sources

Chapter 25 RNA Decay by Messenger RNA Interferases

2008
Two abundant toxin-antitoxin (TA) gene families, relBE and mazEF, encode mRNA cleaving enzymes whose ectopic overexpression abruptly inhibits translation and thereby induces a bacteriostatic condition. Here we describe and discuss protocols for the overproduction, purification, and analysis of mRNA cleaving enzymes such as RelE of Escherichia coli and ...
Christensen-Dalsgaard M, Overgaard M, Winther KS, Gerdes K   +3 more
openaire   +5 more sources

The exosome: a multipurpose RNA-decay machine

Trends in Biochemical Sciences, 2008
The diversity of RNAs in the cell continues to amaze. In addition to the 'classic' species of mRNA, tRNA, rRNA, snRNA and snoRNA, it is now clear that the majority of genomic information is transcribed into RNA molecules. The resulting complexity of the transcriptome poses a serious challenge to cells because they must manage numerous RNA-processing ...
Schmid, Manfred, Jensen, Torben Heick
openaire   +4 more sources

Messenger RNA Decay

EcoSal Plus, 2007
This chapter discusses several topics relating to the mechanisms of mRNA decay. These topics include the following: important physical properties of mRNA molecules that can alter their stability; methods for determining mRNA half-lives; the genetics and biochemistry of proteins and enzymes involved in mRNA decay; posttranscriptional ...
openaire   +2 more sources

RNA deadenylation and decay in plants

Journal of Plant Biology, 2013
In eukaryotic cells, RNA levels are tightly regulated in a spatio-temporal manner to maintain the protein levels necessary for cell growth, differentiation and division. To cope with developmental and rapid environmental changes, RNAs that are no longer required by the cell undergo degradation via the mRNA decay process. A number of players involved in
Nazia Abbasi, Sang-Bong Choi, Youn-Il Park   +2 more
openaire   +2 more sources