Results 51 to 60 of about 8,105,978 (263)

The impact of rare and low-frequency genetic variants in common disease

Genome Biology, 2017
Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for.
Lorenzo Bomba, Klaudia Walter, Nicole Soranzo   +2 more
doaj   +1 more source

Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies

Genome Biology, 2020
Recent long-read assemblies often exceed the quality and completeness of available reference genomes, making validation challenging. Here we present Merqury, a novel tool for reference-free assembly evaluation based on efficient k-mer set operations.
Arang Rhie, Brian P. Walenz, Sergey Koren, Adam M. Phillippy   +3 more
doaj   +1 more source

Fluorescence in situ hybridization to chromosomes as a tool to understand human and primate genome evolution [PDF]

, 2005
For the last 15 years molecular cytogenetic techniques have been extensively used to study primate evolution. Molecular probes were helpful to distinguish mammalian chromosomes and chromosome segments on the basis of their DNA content rather than solely ...
Wienberg, Johannes, Wienberg, J.
core   +1 more source

An epithelial GPR35 isoform supports tumor‐associated transcriptional and metabolic phenotypes

FEBS Letters, EarlyView.
GPR35 generates two functionally distinct isoforms with previously unresolved roles. GPR35‐short mediates immune‐cell chemotaxis, while GPR35‐long is enriched in colorectal cancer epithelium, where it supports increased metabolism, proliferation, and tumor‐associated transcriptional programs.
Jørgen D. Rønneberg, Martine Hjeltnes, Josephine Krieger, Joshua E. Elias, Maria Stensland, Kristian Holm, Xiaojun Jiang, Chuki Khangsar, Tuula A. Nyman, Arthur Kaser, Johannes R. Hov, Tom H. Karlsen, Nicole C. Kaneider, Frode L. Jahnsen, Georg Schneditz   +14 more
wiley   +1 more source

Structure‐forward targeting of claudins with synthetic binders

FEBS Letters, EarlyView.
Claudins form the paracellular barriers between epithelial and endothelial tissues at tight junctions and are targets for molecular binders with the goal of modulating barrier permeability. Claudin‐binding molecules are relevant in drug delivery or in altering claudin interactions with disease‐causing proteins.
Alex J. Vecchio
wiley   +1 more source

Discerning protein pools by selective staining with self‐labeling tags

FEBS Letters, EarlyView.
Cell surface proteins have an intra‐ and extracellular pool. Combining genetic fusion to self‐labeling tags that can be addressed with small molecule fluorophores allows separating these pools. We highlight recent developments and techniques for state‐of‐the‐art interrogation of cell surface proteins in the complex tissue setting.
Kati Fischermanns, Johannes Broichhagen
wiley   +1 more source

Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics

FEBS Letters, EarlyView.
Proximity‐dependent labeling at the LAMTOR complex revealed the Rho GEF PLEKHG3 as a lysosome‐proximal protein directing the study toward the influence of lysosome positioning on actin dynamics and cell motility. We show that PLEKHG3 colocalizes with lysosomes at focal adhesion sites and observe that forced peripheral dispersion of lysosomes hinders ...
Rainer Ettelt, Ana‐Maria Sandru, Georg Vucak, Sebastian Didusch, Biljana Riemelmoser, Karin Ehrenreiter, Markus Hartl, Lukas A. Huber, Manuela Baccarini   +8 more
wiley   +1 more source

The Sequence of the Human Genome [PDF]

Clinical Chemistry, 2015
A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of ...
J Craig, Venter, Hamilton O, Smith, Mark D, Adams   +2 more
openaire   +2 more sources

Human Adipose-Derived Mesenchymal Stromal Cells Injected Systemically into GRMD Dogs without Immunosuppression are Able to Reach the Host Muscle and Express Human Dystrophin

Cell Transplantation, 2012
Duchenne muscular dystrophy (DMD), a lethal X-linked disorder, is the most common and severe form of muscular dystrophies, affecting 1 in 3,500 male births. Mutations in the DMD gene lead to the absence of muscle dystrophin and a progressive degeneration
N. M. Vieira, M. Valadares, E. Zucconi, M. Secco, C. R. Bueno Junior, V. Brandalise, A. Assoni, J. Gomes, V. Landini, T. Andrade, H. V. A. Caetano, M. Vainzof, M. Zatz   +12 more
doaj   +1 more source

Pig genome sequence - analysis and publication strategy [PDF]

, 2010
Background The pig genome is being sequenced and characterised under the auspices of the Swine Genome Sequencing Consortium. The sequencing strategy followed a hybrid approach combining hierarchical shotgun sequencing of BAC clones and whole genome ...
Fredholm, M., Harlizius Barbara, Martien A M Groenen, Bolund, Lars, Rothschild Max F, Lee Kyung-Tai, Jane Rogers, Barbara Harlizius, Denis Milan, Groenen, M.A.M., Lee, Kyung-Tai, ?, ?, Uenishi, Hirohide, Jun Wang, Uenishi Hirohide, Churcher, C., Harlizius, Barbara, Lars Bolund, Lawrence B Schook, Alan L Archibald, Archibald Alan L, Fredholm, Merete, Groenen, Martien A. M., Schook, Lawrence B., Harlizius, B., Fredholm Merete, Archibald, A.L., The Swine Genome Sequencing Consortium,, Milan Denis, Bolund Lars, Groenen, Martien A.M., Rogers Jane, Wang Jun, Swine Genome Sequencing Consortium, Hirohide Uenishi, Groenen Martien AM, Rothschild, Max F., Bolund, L., Milan, Denis, Archibald, Alan L., Wang, Jun, Merete Fredholm, Kyung-Tai Lee, The Swine Genome Sequencing Consortium, -, Carol Churcher, Rogers, Jane, Churcher, Carol, Max F Rothschild, Schook Lawrence B, Churcher Carol   +49 more
core   +1 more source