Results 61 to 70 of about 25,457 (267)

Highly multiplexed targeted sequencing strategy for infectious disease surveillance

BMC Biotechnology, 2023
Background Global efforts to characterize diseases of poverty are hampered by lack of affordable and comprehensive detection platforms, resulting in suboptimal allocation of health care resources and inefficient disease control.
Iván Hernández-Neuta, Anastasia Magoulopoulou, Flor Pineiro, Jan Gorm Lisby, Mats Gulberg, Mats Nilsson   +5 more
doaj   +1 more source

Novel molecular aberrations and pathologic findings in a tubulocystic variant of renal cell carcinoma

Indian Journal of Pathology and Microbiology, 2013
Tubulocystic renal cell carcinoma (TRCC) is an indolent type of renal cell carcinoma with a good prognosis based on the limited number of published cases. Herein, we describe the unusual clinical, pathologic and molecular findings in a case of TRCC.
Nikhil A Sangle, Rong Mao, Shashirekha Shetty, Joshua D Schiffman, Christopher Dechet, Lester Layfield, Neeraj Agarwal, Ting Liu   +7 more
doaj   +1 more source

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. [PDF]

PLoS ONE, 2011
Despite the ever-increasing throughput and steadily decreasing cost of next generation sequencing (NGS), whole genome sequencing of humans is still not a viable option for the majority of genetics laboratories.
Dale J Hedges, Toumy Guettouche, Shan Yang, Guney Bademci, Ashley Diaz, Ashley Andersen, William F Hulme, Sara Linker, Arpit Mehta, Yvonne J K Edwards, Gary W Beecham, Eden R Martin, Margaret A Pericak-Vance, Stephan Zuchner, Jeffery M Vance, John R Gilbert   +15 more
doaj   +1 more source

Single cis‐elements in brassinosteroid‐induced upregulated genes are insufficient to recruit both redox states of the BIL1/BZR1 DNA‐binding domain

FEBS Letters, EarlyView.
Phytohormone brassinosteroid‐induced gene regulation by the transcription factor BIL1/BZR1 involves redox‐dependent DNA‐binding alternation and interaction with the transcription factor PIF4. The reduced BIL1/BZR1 dimer binds preferred cis‐elements, while oxidation alters its oligomerization state and disrupts DNA‐binding ability.
Shohei Nosaki, Masae Ohtsuka, Takeshi Nakano, Masaru Tanokura, Takuya Miyakawa   +4 more
wiley   +1 more source

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

Frontiers in Neurology, 2019
Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening. Methods: Single molecule Molecular Inversion Probes (smMIPs) were used for targeted enrichment and sequencing of all protein coding exons
Michaela Pogoda, Franz-Joachim Hilke, Franz-Joachim Hilke, Ebba Lohmann, Ebba Lohmann, Ebba Lohmann, Marc Sturm, Florian Lenz, Jakob Matthes, Francesc Muyas, Francesc Muyas, Francesc Muyas, Stephan Ossowski, Stephan Ossowski, Stephan Ossowski, Alexander Hoischen, Alexander Hoischen, Ulrike Faust, Ilnaz Sepahi, Nicolas Casadei, Nicolas Casadei, Sven Poths, Olaf Riess, Olaf Riess, Christopher Schroeder, Kathrin Grundmann   +25 more
openaire   +7 more sources

A working model for cytoplasmic assembly of H/ACA snoRNPs

FEBS Letters, EarlyView.
Dyskerin is the component of nuclear H/ACA ribonucleoproteins (RNPs) endowed with pseudouridine synthase catalytic activity. Two isoforms of human dyskerin have been characterized: the abundant Iso1, mainly nuclear, and the shorter Iso3, mainly cytoplasmic but occasionally imported into nuclei.
Alberto Angrisani, Maria Furia
wiley   +1 more source

Recurrent loss of heterozygosity in 1p36 associated with TNFRSF14 mutations in IRF4 translocation negative pediatric follicular lymphomas

Haematologica, 2013
Pediatric follicular lymphoma is a rare disease that differs genetically and clinically from its adult counterpart. With the exception of pediatric follicular lymphoma with IRF4-translocation, the genetic events associated with these lymphomas have not ...
Idoia Martin-Guerrero, Itziar Salaverria, Birgit Burkhardt, Monika Szczepanowski, Michael Baudis, Susanne Bens, Laurence de Leval, Africa Garcia-Orad, Heike Horn, Jasmin Lisfeld, Shoji Pellissery, Wolfram Klapper, Ilske Oschlies, Reiner Siebert   +13 more
doaj   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Haematologica, 2020
Genomic studies of pediatric acute lymphoblastic leukemia (ALL) have shown remarkable heterogeneity in initial diagnosis, with multiple (sub)clones harboring lesions in relapse-associated genes.
Željko Antić, Jiangyan Yu, Simon V. van Reijmersdal, Anke van Dijk, Linde Dekker, Wouter H. Segerink, Edwin Sonneveld, Marta Fiocco, Rob Pieters, Peter M. Hoogerbrugge, Frank N. van Leeuwen, Ad Geurts van Kessel, Esme Waanders, Roland P. Kuiper   +13 more
doaj   +1 more source

Linked dimers of the AAA+ ATPase Msp1 reveal energetic demands and mechanistic plasticity for substrate extraction from lipid bilayers

FEBS Letters, EarlyView.
Cells must clear mislocalized or faulty proteins from membranes to survive. The AAA+ ATPase Msp1 performs this task, but dissecting how its six subunits work together is challenging. We engineered linked dimers with varied numbers of functional subunits to reveal how Msp1 subunits cooperate and use energy to extract proteins from the lipid bilayer ...
Deepika Gaur, Brian Acquaviva, Baylee A. Smith, Nathan Walker, Isabella Walter, Matthew L. Wohlever   +5 more
wiley   +1 more source