Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata +3 more
wiley +1 more source
Identification and characterization of components of the Candida albicans inner kinetochore. [PDF]
Xiong EH +8 more
europepmc +1 more source
Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley +1 more source
Molecular anatomy of PLK1 master docking motifs. [PDF]
Ren L +10 more
europepmc +1 more source
ABSTRACT Horses are major domestic animals and cultural symbols that have accompanied humans for millennia. They underpin transport, agriculture, warfare and sport, and also provide a model for studying domestication, complex traits and adaptive evolution.
Ying Lu +6 more
wiley +1 more source
RB dependent transcriptional regulation at mitotic centromeres preserves genome stability. [PDF]
Crowley EA, Manning AL.
europepmc +1 more source
Utility of ANA in hospitalized patients with headache and suspected systemic autoimmune disease
Abstract Objective This study evaluates antinuclear antibody (ANA) test performance in identifying rheumatologic conditions as the source of the headache. Background ANA testing is widely used to screen for autoimmune diseases in patients with headaches, but its diagnostic utility remains unclear. Methods In this retrospective analytic, cross‐sectional
Erez Magiel +7 more
wiley +1 more source
Orchestrating homolog segregation in meiosis I: molecular logic and regulatory networks with emphasis on male metaphase I. [PDF]
Zhang X +9 more
europepmc +1 more source
Hematopathology Practice in the Digital Era: What has Changed?
ABSTRACT Hematopathology workflows are complex, since they include numerous data points necessary for guiding further testing, diagnosis, and patient management. The workflows start with complete blood cell counts, with subsequent morphologic evaluation of peripheral blood (PB) and bone marrow (BM).
Olga Pozdnyakova
wiley +1 more source
Kinetochore mutations and histone phosphorylation pattern changes accompany holo- and macro-monocentromere evolution. [PDF]
Kuo YT +12 more
europepmc +1 more source

