Results 21 to 30 of about 4,111,769 (301)

Structural Variants May Be a Source of Missing Heritability in sALS

Frontiers in Neuroscience, 2020
The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis (ALS) remain poorly understood. Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as the repeat expansion in ...
Frances Theunissen, Frances Theunissen, Loren L. Flynn, Loren L. Flynn, Loren L. Flynn, Ryan S. Anderton, Ryan S. Anderton, Ryan S. Anderton, Frank Mastaglia, Frank Mastaglia, Julia Pytte, Julia Pytte, Leanne Jiang, Leanne Jiang, Stuart Hodgetts, Stuart Hodgetts, Daniel K. Burns, Ann Saunders, Sue Fletcher, Sue Fletcher, Steve D. Wilton, Steve D. Wilton, Steve D. Wilton, Patrick Anthony Akkari, Patrick Anthony Akkari, Patrick Anthony Akkari   +25 more
doaj   +1 more source

Genetic Control of Rod Bipolar Cell Number in the Mouse Retina

Frontiers in Neuroscience, 2018
Genetic variants modulate the numbers of various retinal cell types in mice. For instance, there is minimal variation in the number of rod bipolar cells (RBCs) in two inbred strains of mice (A/J and C57BL/6J), yet their F1 offspring contain significantly
Amanda G. Kautzman, Amanda G. Kautzman, Patrick W. Keeley, Patrick W. Keeley, Sarra Borhanian, Sarra Borhanian, Caroline R. Ackley, Caroline R. Ackley, Benjamin E. Reese, Benjamin E. Reese   +9 more
doaj   +1 more source

Structure-Based Understanding of ABCA3 Variants [PDF]

International Journal of Molecular Sciences, 2021
ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respiratory distress and interstitial lung disease. Mutations are mostly private, and accurate interpretation of variants is mandatory for genetic counseling and patient care.
Onnée, Marion, Fanen, Pascale, Callebaut, Isabelle, de Becdelièvre, Alix   +3 more
openaire   +2 more sources

Expression and modulation of CD44 variant isoforms in humans [PDF]

, 1994
CD44 is a ubiquitous surface molecule that exists as a number of isoforms, generated by alternative splicing of 10 "variant" exons. Little is known about the expression and function of the variant isoforms, except that certain isoforms may play a role in
Mackay, C. R., H Stark, Günthert, U., Stauder, R., HJ Terpe, Stark, H., R Stauder, U Günthert, Terpe, H. J., Marston, W. L., WL Marston, CR Mackay   +11 more
core   +1 more source

svaRetro and svaNUMT: modular packages for annotating retrotransposed transcripts and nuclear integration of mitochondrial DNA in genome sequencing data

GigaByte, 2022
Nuclear integration of mitochondrial genomes and retrocopied transcript insertion are biologically important but often-overlooked aspects of structural variant (SV) annotation.
Ruining Dong , Daniel Cameron , Justin Bedo , Anthony T. Papenfuss   +3 more
doaj   +1 more source

Structural variant evolution after telomere crisis

Nature Communications, 2021
Telomere crisis has been shown to induce chromothripsis and breakage fusion bridge (BFB) cycles in vitro. Here, the authors show that telomere crisis generates a much broader spectrum of structural variations, implying that cancers without chromothripsis
Sally M. Dewhurst, Xiaotong Yao, Joel Rosiene, Huasong Tian, Julie Behr, Nazario Bosco, Kaori K. Takai, Titia de Lange, Marcin Imieliński   +8 more
doaj   +1 more source

Blocking Variant Surface Glycoprotein synthesis in Trypanosoma brucei triggers a general arrest in translation initiation [PDF]

, 2009
Background: The African trypanosome Trypanosoma brucei is covered with a dense layer of Variant Surface Glycoprotein (VSG), which protects it from lysis by host complement via the alternative pathway in the mammalian bloodstream.
Gluenz, E, Rudenko, G, Gluenz Eva, Terry K Smith, Shulamit Michaeli, Susanne Kramer, Michaeli, Shulamit, Terry, Stephen, Terry K. Smith, Michaeli, S, Eva Gluenz, Smith, Terry K., Vasileva, N, Nadina Vasileva, Mark Carrington, Michaeli Shulamit, Vasileva, Nadina, Carrington, M, Stephen Terry, Rudenko Gloria, Gull Keith, Portman, N, Gluenz, Eva, Keith Gull, Terry, S, Smith Terry K., Neil Portman, Gull, K, Kramer, S, Portman, Neil, Smith, TK, Smith, Terry K, Rudenko, Gloria, Terry Stephen, Vasileva Nadina, Gull, Keith, Carrington Mark, Carrington, Mark, Kramer, Susanne, Terry K. Smith, Portman Neil, Kramer Susanne, Gloria Rudenko   +42 more
core   +2 more sources

Whole genome resequencing of the Iranian native dogs and wolves to unravel variome during dog domestication

BMC Genomics, 2020
Background Advances in genome technology have simplified a new comprehension of the genetic and historical processes crucial to rapid phenotypic evolution under domestication. To get new insight into the genetic basis of the dog domestication process, we
Zeinab Amiri Ghanatsaman, Guo-Dong Wang, Hojjat Asadollahpour Nanaei, Masood Asadi Fozi, Min-Sheng Peng, Ali Esmailizadeh, Ya-Ping Zhang   +6 more
doaj   +1 more source

Mutacin 1140 Lantibiotic Variants Are Efficacious Against Clostridium difficile Infection

Frontiers in Microbiology, 2018
Lantibiotics offer an untapped pipeline for the development of novel antibiotics to treat serious Gram-positive (+) infections including Clostridium difficile.
Johan A. Kers, Robert E. Sharp, Anthony W. Defusco, Jae H. Park, Jin Xu, Mark E. Pulse, William J. Weiss, Martin Handfield   +7 more
doaj   +1 more source

SARS-CoV CH.1.1 Variant: Genomic and Structural Insight

Infectious Disease Reports, 2023
In early February 2023, the Omicron subvariant XBB.1.5, also known as “Kraken”, accounted for more than 44% of new COVID-19 cases worldwide, whereas a relatively new Omicron subvariant named CH.1.1, deemed “Orthrus”, accounted for less than 6% of new ...
Liliana Bazzani, Elena Imperia, Fabio Scarpa, Daria Sanna, Marco Casu, Alessandra Borsetti, Stefano Pascarella, Nicola Petrosillo, Eleonora Cella, Marta Giovanetti, Massimo Ciccozzi   +10 more
doaj   +1 more source