Results 21 to 30 of about 3,111 (165)

RNA biology of disease-associated microsatellite repeat expansions

Acta Neuropathologica Communications, 2017
Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome and have important roles in genome evolution and function. However, the expansion of microsatellites is associated with over two dozen neurological diseases. A common
Kushal J. Rohilla, Keith T. Gagnon
doaj   +1 more source

The repeat region of the circumsporozoite protein is critical for sporozoite formation and maturation in Plasmodium.

PLoS ONE, 2014
The circumsporozoite protein (CSP) is the major surface protein of the sporozoite stage of malaria parasites and has multiple functions as the parasite develops and then migrates from the mosquito midgut to the mammalian liver.
David J P Ferguson, Amanda E Balaban, Eva-Maria Patzewitz, Richard J Wall, Christine S Hopp, Benoit Poulin, Asif Mohmmed, Pawan Malhotra, Alida Coppi, Photini Sinnis, Rita Tewari   +10 more
doaj   +1 more source

A comprehensive tandem repeat catalog of the human genome

Nature Communications
With the increasing availability of long-read sequencing data, high-quality human genome assemblies, and software for fully characterizing tandem repeats, genome-wide genotyping of tandem repeat loci on a population scale is becoming more feasible.
Readman Chiu, Indhu-Shree Rajan-Babu, Jan M. Friedman, Inanc Birol   +3 more
doaj   +1 more source

Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs

Nature Communications, 2021
Variable number tandem repeats (VNTRs) are difficult to analyze by short-read sequencing in disease studies. Here, the authors describe a VNTR mapping strategy for short-read analyses using a repeat pangenome graph.
Tsung-Yu Lu, The Human Genome Structural Variation Consortium, Mark J. P. Chaisson   +2 more
doaj   +1 more source

Infant Embryonal CNS Tumors: Molecular Insights and Treatment Considerations for Contemporary Pediatric Neuro‐Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan, Mariah Wright‐Nadkarni, Mohamed S. Abdelbaki, Girish Dhall   +3 more
wiley   +1 more source

Contractions of the C-Terminal Domain of Saccharomyces cerevisiae Rpb1p Are Mediated by Rad5p

G3: Genes, Genomes, Genetics, 2020
The C-terminal domain (CTD) is an essential domain of the largest subunit of RNA polymerase II, Rpb1p, and is composed of 26 tandem repeats of a seven-amino acid sequence, YSPTSPS.
Taylor Stewart, Alexandra E. Exner, Paras Patnaik, Stephen M. Fuchs   +3 more
doaj   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Diversity in coding tandem repeats in related Neisseria spp.

BMC Microbiology, 2003
Background Tandem repeats contained within coding regions can mediate phase variation when the repeated units change the reading frame of the coding sequence in a copy number dependent manner.
Saunders Nigel J, Snyder Lori AS, Jordan Philip   +2 more
doaj   +1 more source

Specific tandem repeats are sufficient for paramutation-induced trans-generational silencing. [PDF]

PLoS Genetics, 2013
Paramutation is a well-studied epigenetic phenomenon in which trans communication between two different alleles leads to meiotically heritable transcriptional silencing of one of the alleles.
Christiane L Belele, Lyudmila Sidorenko, Maike Stam, Rechien Bader, Mario A Arteaga-Vazquez, Vicki L Chandler   +5 more
doaj   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source