Results 111 to 120 of about 59,267 (253)

Gene expression of endangered coral (Orbicella spp.) in flower garden banks National Marine Sanctuary after Hurricane Harvey [PDF]

, 2019
About 190 km south of the Texas–Louisiana border, the East and West Flower Garden Banks (FGB) have maintained > 50% coral cover with infrequent and minor incidents of disease or bleaching since monitoring began in the 1970s.
Correa, Adrienne M.S., Davies, Sarah W., Quigley, Lucinda A., Santiago-Vázquez, Lory Z., Shamberger, Kathryn E.F., Wright, Rachel M.   +5 more
core   +3 more sources

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Stop that nonsense!

eLife, 2014
Cells can avoid the effects of so-called ‘nonsense’ mutations by several methods, including a newly discovered mechanism driven by microRNA molecules.
Catherine L Jopling
doaj   +1 more source

The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis [PDF]

, 2018
A nonsense variant (p.W358X) of human pancreatic lipase related protein 2 (PNLIPRP2) is present in different ethnic populations with a high allele frequency.
Hegyi, Eszter, Hegyi, Peter, Lowe, Mark E, Nemeth, Balazs Csaba, Pesei, Zsofia Gabriella, Sahin-Toth, Miklos, Szentesi, Andrea, Szucs, Akos   +7 more
core   +2 more sources

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source

Climatic–Anthropogenic Synergy Drives Escalating Minimum Area Requirements and Connectivity‐Protection Mismatch in a Karst‐Endemic Primate

Integrative Zoology, EarlyView.
Climate change and anthropogenic activities drive antagonistic degradation of landscape connectivity for endangered François’ langur (1987–2024), causing 48.8% habitat loss, north‐south fragmentation, and centroid migration (1.2 km/yr). Despite protected areas buffering connectivity, static management fails dynamic priority habitats; we propose ...
Guangmei Yang, Heqin Cao, Tuo Shen, Jipeng Tian, Yixin Diao, Haijun Su   +5 more
wiley   +1 more source

UPF1-like helicase grip on nucleic acids dictates processivity

Nature Communications, 2018
UPF1 is a highly processive helicase that plays an essential role in nonsense-mediated mRNA decay. Here the authors use single molecule binding assays to establish a functionally important relationship between helicase grip to nucleic acids, binding ...
Joanne Kanaan, Saurabh Raj, Laurence Decourty, Cosmin Saveanu, Vincent Croquette, Hervé Le Hir   +5 more
doaj   +1 more source

Monetary Policy, Investor Sentiment and Stock Price Bubble: Evidence From China

Accounting &Finance, EarlyView.
ABSTRACT The empirical results indicate that an increase in interest rates may stimulate a significant and persistent stock price bubble, which is consistent with rational asset price bubble theory. This finding suggests that central banks should implement anti‐turbulent monetary policy with caution, since inappropriate tightening may unintentionally ...
Jiahao Gong, Haofan Qiang, Xiaojian Niu, Chante Jian Ding   +3 more
wiley   +1 more source

The Substrates of Nonsense-Mediated mRNA Decay in Caenorhabditis elegans

G3: Genes, Genomes, Genetics, 2018
Nonsense-mediated mRNA decay (NMD) is a conserved pathway that strongly influences eukaryotic gene expression. Inactivating or inhibiting NMD affects the abundance of a substantial fraction of the transcriptome in numerous species.
Virginia S. Muir, Audrey P. Gasch, Philip Anderson   +2 more
doaj   +1 more source