Results 41 to 50 of about 71,445,035 (215)

Identification and characterisation of calcitonin receptor isoforms expressed in glioblastoma derived glioma stem and U‐87 MG cells

FEBS Open Bio, EarlyView.
Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta, Sebastian GB Furness, Tahereh Gharbi, Ric De Paoli‐Iseppi, Shweta S. Joshi, Michael Clark, David L. Hare, Peter Wookey   +7 more
wiley   +1 more source

Specific loss of chromosomes 1, 2, 6, 10, 13, 17, and 21 in chromophobe renal cell carcinomas revealed by comparative genomic hybridization [PDF]

, 1994
We analyzed 19 chromophobe renal cell carcinomas by means of comparative genomic hybridization. Two tumors revealed no numerical abnormalities. In the remaining 17 cases we found loss of entire chromosomes with underrepresentation of chromosome 1 ...
Speicher, Michael R., Cremer, Thomas, Kovacs, Gyula, Störkel, S., Ried, Thomas, Schoell, B., Manoir, Stanislas du, Schröck, Evelin   +7 more
core   +1 more source

Structural and biochemical insights into the thermostable esterase Ta0887 from Thermoplasma acidophilum

FEBS Open Bio, EarlyView.
In this study, a novel esterase from the thermoacidophilic archaeon Thermoplasma acidophilum was biochemically and structurally characterized. Our results demonstrate that Ta0887 is a highly thermostable esterase that preferentially hydrolyzes p‐nitrophenyl hexanoate and possesses an α‐helical cap domain that likely contributes to its substrate ...
Alejandro Delgado‐Rey, Miriam Livier Llamas‐García, Gabriela M. Montero‐Morán, Leticia Santos, Samuel Lara‐González   +4 more
wiley   +1 more source

Stretching the Rules: Monocentric Chromosomes with Multiple Centromere Domains [PDF]

, 2012
The centromere is a functional chromosome domain that is essential for faithful chromosome segregation during cell division and that can be reliably identified by the presence of the centromere-specific histone H3 variant CenH3.
Elizabeth Schroeder-Reiter, Schroeder-Reiter, Elizabeth, Chocholova, Eva, Neumann Pavel, Novák Petr, Petr Novák (2448673), Navrátilová Alice, Wanner, Gerhard, Macas Jiří, Gerhard Wanner (40161), Petr Novák, Koblížková Andrea, Jiří Macas (84231), Pavel Neumann, Steinbauerova, Veronika, Navratilova, Alice, Elizabeth Schroeder-Reiter (156901), Andrea Koblížková, Eva Chocholová (156910), Veronika Steinbauerová, Alice Navrátilová (84233), Macas, Jiri, Pavel Neumann (84232), Andrea Koblížková (156904), Neumann, Pavel, Koblizkova, Andrea, Eva Chocholová, Schroeder-Reiter Elizabeth, Wanner Gerhard, Jiří Macas, Veronika Steinbauerová (156907), Novak, Petr, Alice Navrátilová, Gerhard Wanner, Steinbauerová Veronika, Chocholová Eva   +35 more
core   +2 more sources

Genetic dissection of human ABCE1 in yeast reveals separable requirements for ribosome recycling and suppression of aberrant reinitiation

FEBS Open Bio, EarlyView.
Human ABCE1 cannot functionally replace its yeast ortholog. Yeast–human chimera analysis identified NBD1 as a major interspecies barrier. Genetic screening yielded hABCE1 revertants that rescue yeast viability but fail to suppress aberrant translation reinitiation in the 3′ UTR.
Eriko Nakata, Yuxin Li, Kei Endo, Koichi Ito   +3 more
wiley   +1 more source

IGF2 knockout reduces but does not abolish osteosarcoma growth in vitro and in vivo

FEBS Open Bio, EarlyView.
To test whether endogenous IGF2 promotes osteosarcoma growth, IGF2 was knocked out in Saos2 cells via CRISPR‐Cas9. KO cells showed reduced proliferation in vitro, and knockout xenografts in mice reached only ~25% of wild‐type tumor volume. Insulin‐like growth factor 2 (IGF2) is implicated in osteosarcoma, but direct functional evidence of its role is ...
Shun Yao, Marco Archetti
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

aksanroman/The-human-Y-and-inactive-X-chromosomes-similarly-modulate-autosomal-gene-expression: Code release for Cell Genomics

, 2023
<p>This is the code that accompanies the final version of San Roman et al "The human Y and inactive X chromosomes similarly modulate autosomal gene expression" in press at Cell Genomics, October 2023</p ...
aksanroman
core   +1 more source

Measuring Blood Plasma Glutamine Levels Using a Nanopore‐Based Sensor

Advanced Healthcare Materials, EarlyView.
Glutamine (GLN) is a biomarker useful for predicting toxic ammonia accumulation. Here, we used a biosensor based on the Cytolysin A (ClyA) nanopore coupled with the GLN‐specific protein substrate‐binding domain 2 (SBD2) to demonstrate real‐time measurement of GLN in blood plasma, highlighting the potential for future point‐of‐care applications ...
Sofia B. Relvas, Iris M. Kormelink, Sandra Michel‐Souzy, Florian L. R. Lucas, Nieck J. van der Heide, Hans R. Waterham, Ramon Versteeg, Judith Jans, Loes I. Segerink, Carsten Wloka   +9 more
wiley   +1 more source