Results 91 to 100 of about 31,924 (248)
Advanced Science, EarlyView.We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren +6 more
wiley +1 more source
Astrin is required for the maintenance of sister chromatid cohesion and centrosome integrity [PDF]
, 2007 Faithful chromosome segregation in mitosis requires the formation of a bipolar mitotic spindle with stably attached chromosomes. Once all of the chromosomes are aligned, the connection between the sister chromatids is severed by the cysteine protease ...
Gruneberg, Ulrike +3 more
core +3 more sources
Developmental Dynamics, EarlyView.Abstract Background Mutations in cohesins cause cohesinopathies such as Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS). Prior findings demonstrate that Esco2 (a cohesin activator) and Smc3 (a core cohesin subunit) regulate the CRL4 E3 ubiquitin ligase. SMC3 mutations, however, account for a small percentage of CdLS.
Annie C. Sanchez +4 more
wiley +1 more source
Conformational dynamics of the Hop1 HORMA domain reveal a common mechanism with the spindle checkpoint protein Mad2. [PDF]
, 2017 The HORMA domain is a highly conserved protein-protein interaction module found in eukaryotic signaling proteins including the spindle assembly checkpoint protein Mad2 and the meiotic HORMAD proteins.
Corbett, Kevin D +2 more
core +2 more sources
Environmental and Molecular Mutagenesis, EarlyView.Abstract Regulatory genetic toxicology focuses on DNA damage and subsequent gene mutations. However, genotoxic agents can also affect epigenetic marks, and incorporation of epigenetic data into the regulatory framework may thus enhance the accuracy of risk assessment.
Roger Godschalk +4 more
wiley +1 more source
Liberating cohesin from cohesion [PDF]
Genes & Development, 2017 Cohesin was identified through its major role in holding sister chromatids together. We are learning through analysis of cohesin and other members of the protein family (SMC [structural maintenance of chromosomes]) and their regulators that these ring complexes contribute to chromosome organization and dynamics throughout the cell cycle.
openaire +2 more sources
Cohesin positions the epigenetic reader Phf2 within the genome
The EMBO JournalGenomic DNA is assembled into chromatin by histones, and extruded into loops by cohesin. These mechanisms control important genomic functions, but whether histones and cohesin cooperate in genome regulation is poorly understood.
Wen Tang +7 more
doaj +1 more source
Determining cellular CTCF and cohesin abundances to constrain 3D genome models. [PDF]
, 2019 Achieving a quantitative and predictive understanding of 3D genome architecture remains a major challenge, as it requires quantitative measurements of the key proteins involved.
Cattoglio, Claudia +11 more
core +2 more sources
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source
Epigenetic regulation of Mash1 expression [PDF]
, 2010 Mash1 is a proneural gene important for specifying the neural fate. The Mash1 locus undergoes specific epigenetic changes in ES cells following neural induction.
Beretta, Chiara, Beretta, Chiara
core +1 more source