[PDF][PDF] Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions
Mammalian genomes are organized into megabase-scale topologically associated domains
(TADs). We demonstrate that disruption of TADs can rewire long-range regulatory …
(TADs). We demonstrate that disruption of TADs can rewire long-range regulatory …
[HTML][HTML] Seroprevalence of antibodies against SARS-CoV-2 among health care workers in a large Spanish reference hospital
AL Garcia-Basteiro, G Moncunill, M Tortajada… - Nature …, 2020 - nature.com
Health care workers (HCW) are a high-risk population to acquire SARS-CoV-2 infection from
patients or other fellow HCW. This study aims at estimating the seroprevalence against …
patients or other fellow HCW. This study aims at estimating the seroprevalence against …
Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish
A Hruscha, P Krawitz, A Rechenberg… - …, 2013 - journals.biologists.com
Gene modifications in animal models have been greatly facilitated through the application of
targeted genome editing tools. The prokaryotic CRISPR/Cas9 type II genome editing system …
targeted genome editing tools. The prokaryotic CRISPR/Cas9 type II genome editing system …
[PDF][PDF] A global metagenomic map of urban microbiomes and antimicrobial resistance
D Danko, D Bezdan, EE Afshin, S Ahsanuddin… - Cell, 2021 - cell.com
We present a global atlas of 4,728 metagenomic samples from mass-transit systems in 60
cities over 3 years, representing the first systematic, worldwide catalog of the urban …
cities over 3 years, representing the first systematic, worldwide catalog of the urban …
[HTML][HTML] European sea bass genome and its variation provide insights into adaptation to euryhalinity and speciation
Abstract The European sea bass (Dicentrarchus labrax) is a temperate-zone euryhaline
teleost of prime importance for aquaculture and fisheries. This species is subdivided into two …
teleost of prime importance for aquaculture and fisheries. This species is subdivided into two …
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
PM Krawitz, MR Schweiger, C Rödelsperger… - Nature …, 2010 - nature.com
Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of
mental retardation with distinct facial features and elevated serum alkaline phosphatase. We …
mental retardation with distinct facial features and elevated serum alkaline phosphatase. We …
Transcription factors orchestrate dynamic interplay between genome topology and gene regulation during cell reprogramming
Chromosomal architecture is known to influence gene expression, yet its role in controlling
cell fate remains poorly understood. Reprogramming of somatic cells into pluripotent stem …
cell fate remains poorly understood. Reprogramming of somatic cells into pluripotent stem …
Whole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations
M Neumann, S Heesch, C Schlee… - Blood, The Journal …, 2013 - ashpublications.org
Early T-cell precursor (ETP) acute lymphoblastic leukemia (ALL) is a high-risk subgroup of T-
lineage ALL characterized by specific stem cell and myeloid features. In adult ETP-ALL, no …
lineage ALL characterized by specific stem cell and myeloid features. In adult ETP-ALL, no …
[PDF][PDF] Mutations in WNT1 cause different forms of bone fragility
K Keupp, F Beleggia, H Kayserili, AM Barnes… - The American Journal of …, 2013 - cell.com
We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis
imperfecta, a congenital disorder characterized by reduced bone mass and recurrent …
imperfecta, a congenital disorder characterized by reduced bone mass and recurrent …
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
Less than half of patients with suspected genetic disease receive a molecular diagnosis. We
have therefore integrated next-generation sequencing (NGS), bioinformatics, and clinical …
have therefore integrated next-generation sequencing (NGS), bioinformatics, and clinical …