Results 101 to 110 of about 61,070 (218)

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype

Annals of Human Genetics, EarlyView.
ABSTRACT Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) from birth and as a consequence have an elevated morbidity and mortality due to the development of coronary heart disease (CHD).
Steve Eric Humphries, Marta Futema
wiley   +1 more source

SHAPE analysis of long-range interactions reveals extensive and thermodynamically preferred misfolding in a fragile group I intron RNA.

Biochemistry, 2008
Most functional RNAs require proteins to facilitate formation of their active structures. In the case of the yeast bI3 group I intron, splicing requires binding by two proteins, the intron-encoded bI3 maturase and the nuclear encoded Mrs1.
C. D. S. Duncan, K. Weeks
semanticscholar   +1 more source

Mapping VEXAS‐associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population

British Journal of Haematology, EarlyView.
VEXAS syndrome is a late‐onset inflammatory disorder with rheumatological and haematological features. Epidemiological studies of VEXAS syndrome so far have been limited. Analysis of various UK cohorts estimates the incidence of VEXAS to be 1.51/100 000, or 171 new cases in the population of men over the age of 50 who are being investigated for myeloid
Ana Martinez Rodriguez, Leon Chang, Dorota Rowczenio, Alexandra Smith, Ebun Omoyinmi, James A. Poulter, Andrew McGregor, Sebastian Francis, Roochi Trikha, Adam Al‐Hakim, Kar Lok Kong, David G. Kent, Helen Lachmann, Austin Kulasekararaj, Catherine Cargo, Sinisa Savic   +15 more
wiley   +1 more source

Interaction of TFAP2A with the Ku70/80 complex is crucial for HIF‐dependent activation of hypoxia‐inducible genes

The FEBS Journal, EarlyView.
Under normoxic conditions, the SUMOylated fraction of TFAP2A cannot interact with the Ku70/Ku80 complex, nor it can bind to chromatin. The unSUMOylated fraction pre‐occupies the chromatin of a subset of hypoxia‐induced genes together with the Ku70/Ku80 complex for basal euchromatin formation. Under hypoxic conditions, the SUMOylation equilibrium shifts
Amalia Kanoura, Antonis Giakountis, Chrysa Filippopoulou, Angeliki Karagiota, George Stamatakis, Martina Samiotaki, George Panayotou, George Simos, Georgia Chachami   +8 more
wiley   +1 more source

General and Specific Promotion of Flagellar Assembly by a Flagellar Nucleoside Diphosphate Kinase [PDF]

, 2017
Nucleoside diphosphate kinases (NDKs) play a central role in diverse cellular processes using the canonical NDK activity or alternative mechanisms that remain poorly defined.
Ciruelas, Kristine S., Diener, Dennis R., Gopal, Radhika, Ishikawa, Takashi, King, Stephen M., Liu, Yi, Maizy, Yousif, Poghosyan, Emiliya, Yang, Pinfen, Zhu, Xiaoyan   +9 more
core   +1 more source

Unraveling the functional dynamics of Caenorhabditis elegans stress‐responsive omega class GST‐44

The FEBS Journal, EarlyView.
Omega‐class glutathione S‐transferases (GSTs) are integral to redox regulation and cellular stress responses. This study characterized GST‐44 in Caenorhabditis elegans, revealing its predominant expression in the intestine and excretory H‐cell, with significant upregulation under various stress conditions.
Charlotte Sophia Kaiser, Milena Lubisch, Emma Schröder, Luka Ressmann, Marie Nicolaus, Dustin Leusder, Sven Moyzio, Robert Peuss, Antonio Miranda‐Vizuete, Eva Liebau   +9 more
wiley   +1 more source

In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses

The FEBS Journal, EarlyView.
Gle1 knockout mice fail to segregate cell lineages at the blastocyst stage, resulting in very early embryonic lethality. Gle1 knock‐in (KI) mice harboring a pathogenic variant giving rise to lethal congenital contracture syndrome 1 show both known and novel innervation defects, supportive of multiorgan pathology in human fetuses.
Tomáš Zárybnický, Sonja Lindfors, Saana Metso, Julia Koivula, Zoltan Szabo, Rasmus Valtonen, Mikko Tulppo, Johanna Magga, Samu Saarimäki, Sonja Bläuer, Ilkka Miinalainen, Risto Kerkelä, Petteri. T. Piepponen, Vootele Voikar, Juho Väänänen, Riikka Kivelä, Bhagwan Yadav, Hanna Lindgren, Pirkko Mattila, Fu‐Ping Zhang, Petra Sipilä, Reetta Hinttala, Satu Kuure   +22 more
wiley   +1 more source

Ribozymes: the characteristics and properties of catalytic RNAs [PDF]

, 2017
Ribozymes, or catalytic RNAs, were discovered a little more than 15 years ago. They are found in the organelles of plants and lower eukaryotes, in amphibians, in prokaryotes, in bacteriophages, and in viroids and satellite viruses that infect plants.
Tanner, N. Kyle
core  

Molecular Mechanisms Underlying Response to Influenza in Grey Seals (Halichoerus grypus), a Potential Wild Reservoir

Molecular Ecology, EarlyView.
ABSTRACT RNA viruses are infamous for their ability to cross species barriers, posing threats to global health and security. Influenza A virus (IAV) is naturally found in avian hosts but periodically spills over into marine wildlife. IAV outbreaks occur in the Northwest Atlantic, but grey seals (Halichoerus grypus) appear to be less susceptible to IAV ...
Christina M. McCosker, Ebru Unal, Alayna Gigliotti, Wendy B. Puryear, Jonathan A. Runstadler, Kimberly T. Murray, Benjamin L. King, Kristina M. Cammen   +7 more
wiley   +1 more source

ARABIDOPSIS HOMOLOG OF TRITHORAX1 impacts lateral root development by epigenetic regulation of targets involved in root system architecture

New Phytologist, EarlyView.
Summary Developmental processes are regulated at multiple levels, including the epigenetic level. Among the epigenetic factors, histone H3 lysine 4 (H3K4) methyltransferases contribute to active transcription of target genes, and here, we explored how the H3K4 methyltransferase ARABIDOPSIS HOMOLOG OF TRITHORAX1 (ATX1) affects Arabidopsis thaliana ...
Selene Napsucialy‐Mendivil, Héctor H. Torres‐Martínez, Gustavo Rodríguez‐Alonso, Diana Marcela Rivera‐Toro, Raúl Alvarez‐Venegas, Marco Adán Júarez‐Verdayes, Svetlana Shishkova, Joseph G. Dubrovsky   +7 more
wiley   +1 more source