[PDF][PDF] Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

DG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati… - Cell, 2015 - cell.com
Mammalian genomes are organized into megabase-scale topologically associated domains
(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 …

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 …

[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 …

[HTML][HTML] European sea bass genome and its variation provide insights into adaptation to euryhalinity and speciation

M Tine, H Kuhl, PA Gagnaire, B Louro… - Nature …, 2014 - nature.com
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 …

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 …

Transcription factors orchestrate dynamic interplay between genome topology and gene regulation during cell reprogramming

R Stadhouders, E Vidal, F Serra, B Di Stefano… - Nature …, 2018 - nature.com
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 …

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 …

[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 …

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

T Zemojtel, S Köhler, L Mackenroth, M Jäger… - Science translational …, 2014 - science.org
Less than half of patients with suspected genetic disease receive a molecular diagnosis. We
have therefore integrated next-generation sequencing (NGS), bioinformatics, and clinical …