Results 161 to 170 of about 4,059 (184)

Separable but Correlated: The Role of Executive Functions and Effortful Control in the Transition to School Age. [PDF]

Behav Sci (Basel)
Predy LK, Vrantsidis D, Khoei M, Ali N, Wiebe SA.   +4 more
europepmc   +1 more source

Altering heparan sulfate suppresses cell abnormalities and neuron loss in <i>Drosophila presenilin</i> model of Alzheimer Disease. [PDF]

iScience
Schultheis N, Connell A, Kapral A, Becker RJ, Mueller R, Shah S, O'Donnell M, Roseman M, Swanson L, DeGuara S, Wang W, Yin F, Saini T, Weiss RJ, Selleck SB.   +14 more
europepmc   +1 more source

Enzymatic characterization and docking simulation of a xylan synthase catalytic subunit, <i>Setaria viridis</i> IRX10, using xylotrimer acceptors with distinct fluorescent labels. [PDF]

Plant Biotechnol (Tokyo)
Suzuki S, Kizuka Y, Mikami B, Yamauchi K, Ishimizu T, Suzuki S.   +5 more
europepmc   +1 more source

The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort Study. [PDF]

Hum Mutat
Borovikov A, Galeeva N, Marakhonov A, Murtazina A, Kadnikova V, Davydenko K, Orlova A, Sparber P, Markova T, Orlova M, Osipova D, Nagornova T, Semenova N, Levchenko O, Filatova A, Sharova M, Vasiluev P, Kanivets I, Pyankov D, Sharkov A, Udalova V, Kenis V, Nikitina N, Sumina M, Zherdev K, Petel'guzov A, Chelpachenko O, Zubkov P, Dan I, Snetkov A, Akinshina A, Buklemishev Y, Ryzhkova O, Tabakov V, Zakharova E, Korostelev S, Zinchenko R, Skoblov M, Polyakov A, Dadali E, Kutsev S, Shchagina O.   +41 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Obesity induced Ext1 reduction mediates the occurrence of NAFLD

Biochemical and Biophysical Research Communications, 2022
Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder with intricate etiology. It is closely associated with metabolic syndrome, insulin resistance and endoplasmic reticulum (ER) stress. Exostosin1 (Ext1) is an ER-resident transmembrane glycosyltransferase, which plays an important role in ER homeostasis.
Mengxiao, Wang, Bingbing, Li, Fujian, Qin, Junmei, Ye, Liang, Jin   +4 more
openaire   +2 more sources

Clinical and molecular studies of EXT1/EXT2 in Bulgaria

Journal of Inherited Metabolic Disease, 2011
AbstractEXT1/EXT2‐CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O‐xylosylglycan glycosylation. The diagnostic criteria are at least two osteochondromas of the juxta‐epiphyseal region of long bones with in the majority of cases a positive family history and/or mutation in one ...
Stancheva-Ivanova, Malina Kirilova, Wuyts, Wim, van Hul, Els, Radeva, Briguita Ivanova, Vazharova, Radoslava Vasileva, Sokolov, Todor Petrov, Vladimirov, Borislav Yordanov, Apostolova, Margarita Dimitrova, Kremensky, Ivo Marinov   +8 more
openaire   +4 more sources

Identification and functional characterization of the human EXT1 promoter region

Gene, 2012
Mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2) cause the autosomal dominant disorder multiple osteochondromas (MO). This disease is mainly characterized by the appearance of multiple cartilage-capped protuberances arising from children's metaphyses and is known to display clinical inter- and intrafamilial variations. EXT1 and EXT2 are both tumor
Jennes, Ivy, Zuntini, Monia, Mees, Kirsten, Palagani, Ajay, Pedrini, Elena, De Cock, Greet, Fransen, Erik, Vanden Berghe, Wim, Sangiorgi, Luca, Wuyts, Wim   +9 more
openaire   +4 more sources

cDNA cloning and distribution of XEXT1, the Xenopus homologue of EXT1

Development Genes and Evolution, 2002
Hereditary Multiple Exostosis (EXT) is an autosomal dominant disorder. Here, we have isolated XEXT1, a Xenopus homologue of EXT1, as an ovary-enriched cDNA clone. The 2,598-bp XEXT1 cDNA had a single open reading frame encoding 735 amino acids. Quantitative RT-PCR analysis showed that transcripts of XEXT1 were present maternally and consumed prior to ...
Shunji Oogami, Tsutomu Kinoshita, Naoya Shima, Tomohisa Katada   +3 more
openaire   +3 more sources

Identification of the Xenopus laevis cDNA for EXT1: A Phylogenetic Perspective

DNA Sequence, 2002
The EXT family of genes is involved in the developmentally important biosynthesis of heparan sulfate molecules. Members of the EXT family have a demonstrated role in gastrulation, wing formation in flies, and proper bone development in vertebrates. EXT family members have been isolated from several phylogenetically diverse species.
Dan E. Wells, Nicholas Brown, M.S. Hill, April Hill   +3 more
openaire   +3 more sources