Shared and distinct roles of Esc2 and Mms21 in suppressing genome rearrangements and regulating intracellular sumoylation. [PDF]
PLoS One, 2021 Suhandynata RT +5 more
europepmc +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Comparative Omics Analysis of Historic and Recent Isolates of Bordetella pertussis and Effects of Genome Rearrangements on Evolution. [PDF]
Emerg Infect Dis, 2021 Dienstbier A +11 more
europepmc +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley +1 more source
Karyotype variation, spontaneous genome rearrangements affecting chemical insensitivity, and expression level polymorphisms in the plant pathogen Phytophthora infestans revealed using its first chromosome-scale assembly. [PDF]
PLoS Pathog, 2022 Matson MEH +3 more
europepmc +1 more source
Genome rearrangements associated with aberrant telomere maintenance. [PDF]
Curr Opin Genet Dev, 2020 Bhargava R, Fischer M, O'Sullivan RJ.
europepmc +1 more source
Comprehensive analysis of cancer breakpoints reveals signatures of genetic and epigenetic contribution to cancer genome rearrangements. [PDF]
PLoS Comput Biol, 2021 Cheloshkina K, Poptsova M.
europepmc +1 more source
Prevalence and Evolutionary Implications of Genome Rearrangements in Bacteria. [PDF]
Genome Biol EvolMartinez-Gutierrez CA +2 more
europepmc +1 more source
Structural variation and evolutionary dynamics of plastid genomes in the subgenus Lychnis (Silene, Caryophyllaceae): insights from genome rearrangements and substitution rates. [PDF]
BMC Plant BiolPark S, Son O.
europepmc +1 more source
Still waters run deep in large-scale genome rearrangements of morphologically conservative Polyplacophora. [PDF]
ElifeSigwart JD +4 more
europepmc +1 more source