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Article
Open AccessDynamic regulation of N6,2′-O-dimethyladenosine (m6Am) in obesity
The prevalent m6Am mRNA cap modification was recently identified as a valid target for removal by the human obesity gene FTO along with the previously established m6A mRNA modification. However, the deposition an...
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Article
The m6A epitranscriptome: transcriptome plasticity in brain development and function
The field of epitranscriptomics examines the recently deciphered form of gene expression regulation that is mediated by type- and site-specific RNA modifications. Similarly to the role played by epigenetic mec...
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Article
Somatic NRAS mutation in patient with generalized lymphatic anomaly
Generalized lymphatic anomaly (GLA or lymphangiomatosis) is a rare disease characterized by a diffuse proliferation of lymphatic vessels in skin and internal organs. It often leads to progressive respiratory f...
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Correction: Corrigendum: Nm-seq maps 2′-O-methylation sites in human mRNA with base precision
Nat. Methods 14, 695–698 (2017); published online 15 May 2017; corrected after print 28 February 2018 We were alerted by readers that the reported Nm consensus sequence in mRNA matches the 3′-adaptor sequence ...
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Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders
Neural progenitor cells undergo somatic retrotransposition events, mainly involving L1 elements, which can be potentially deleterious. Here, we analyze the whole genomes of 20 brain samples and 80 non-brain sa...
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Open AccessRNA editing by ADAR1 leads to context-dependent transcriptome-wide changes in RNA secondary structure
Adenosine deaminase acting on RNA 1 (ADAR1) is the master RNA editor, catalyzing the deamination of adenosine to inosine. RNA editing is vital for preventing abnormal activation of cytosolic nucleic acid sensi...
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Nm-seq maps 2′-O-methylation sites in human mRNA with base precision
Iterative oxidation, elimination and dephosphorylation steps remove nucleotides from the 3′ end of RNA until a 2′-O-methylated ribose that cannot be oxidized is encountered and brings the process to a stop. High-...
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Open AccessG23D: Online tool for map** and visualization of genomic variants on 3D protein structures
Evaluation of the possible implications of genomic variants is an increasingly important task in the current high throughput sequencing era. Structural information however is still not routinely exploited duri...
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Article
The dynamic N1-methyladenosine methylome in eukaryotic messenger RNA
Gene expression can be regulated post-transcriptionally through dynamic and reversible RNA modifications. A recent noteworthy example is N6-methyladenosine (m6A), which affects messenger RNA (mRNA) localization, ...
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Article
Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia
Ataxia telangiectasia (AT) is a rare genetic, multi-system disorder characterized by neurodegeneration, chromosome instability, B and T cell immunodeficiency and a predisposition to cancer. We examined immunol...
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Open AccessInduction of polyploidy by nuclear fusion mechanism upon decreased expression of the nuclear envelope protein LAP2β in the human osteosarcoma cell line U2OS
Polyploidy has been recognized for many years as an important hallmark of cancer cells. Polyploid cells can arise through cell fusion, endoreplication and abortive cell cycle. The inner nuclear membrane protein L...
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Article
Association between a common CYP17A1 haplotype and anxiety in female anorexia nervosa
Dehydroepiandrosterone (DHEA), the main brain neurosteroid, has been implicated in various psychiatric disorders especially those including gender differences. We studied genetic variability in the DHEA-produc...
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Transcriptome-wide map** of N6-methyladenosine by m6A-seq based on immunocapturing and massively parallel sequencing
N6-methyladenosine–sequencing (m6A-seq) is an immunocapturing approach for the unbiased transcriptome-wide localization of m6A in high resolution. To our knowledge, this is the first protocol to allow a global vi...
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Radiotherapy-Induced Basal Cell Carcinomas of the Scalp: Are They Genetically Different?
The treatment of tinea capitis using radiotherapy was introduced at the beginning of the twentieth century. In Israel, between 1949 and 1960, approximately 17,000 children underwent radiotherapy treatments for...
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Article
Open AccessHyperphosphatemia during spontaneous tumor lysis syndrome culminate in severe hypophosphatemia at the time of blast crisis of Phneg CML to acute myelomoncytic leukemia
Extreme swing of phosphor from severe hyperphosphatemia to severe hypophosphatemia in a patient with blast crisis of myeloid origin was the result of imbalance between massive apoptosis of leukemic cells in th...
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Topology of the human and mouse m6A RNA methylomes revealed by m6A-seq
An extensive repertoire of modifications is known to underlie the versatile coding, structural and catalytic functions of RNA, but it remains largely uncharted territory. Although biochemical studies indicate ...
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Article
T-Cell Compartment in Synovial Fluid of Pediatric Patients with JIA Correlates with Disease Phenotype
Juvenile idiopathic arthritis (JIA) is an autoimmune disease where T cells are key players. It can be classified into two main clinical diseases: polyarticular and pauciarticular, based on the number of joints...
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Article
Increased RNA editing in children with cyanotic congenital heart disease
To test the hypothesis that RNA editing is altered in pediatric patients with cyanotic congenital heart disease (CHD) and to determine whether A-to-I RNA editing is associated with the postoperative course fol...
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Article
Open AccessConsistent levels of A-to-I RNA editing across individuals in coding sequences and non-conserved Alu repeats
Adenosine to inosine (A-to-I) RNA-editing is an essential post-transcriptional mechanism that occurs in numerous sites in the human transcriptome, mainly within Alu repeats. It has been shown to have consisten...
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On the origin of glioneural neoplasms after neural cell transplantation
