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Transcription regulation by long non-coding RNAs: mechanisms and disease relevance
Long non-coding RNAs (lncRNAs) outnumber protein-coding transcripts, but their functions remain largely unknown. In this Review, we discuss the...
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A statistical measure for the skewness of X chromosome inactivation based on case-control design
BackgroundSkewed X chromosome inactivation (XCI), which is a non-random process, is frequently observed in both healthy and affected females....
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Molecular breeding of flower load related traits in dioecious autotetraploid Actinidia arguta
Flowering plants exhibit a wide range of sexual reproduction systems, with the majority being hermaphroditic. However, some plants, such as Actinidia...
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A statistical measure for the skewness of X chromosome inactivation based on family trios
BackgroundX chromosome inactivation (XCI) is an important gene regulation mechanism in females to equalize the expression levels of X chromosome...
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Plastin 3 in health and disease: a matter of balance
For a long time, PLS3 (plastin 3, also known as T-plastin or fimbrin) has been considered a rather inconspicuous protein, involved in F-actin-binding...
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Transcription dosage compensation does not occur in Down syndrome
BackgroundThe increase in DNA copy number in Down syndrome (DS; caused by trisomy 21) has led to the DNA dosage hypothesis, which posits that the...
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Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
BackgroundWhole-Exome Sequencing (WES) is a valuable tool for the molecular diagnosis of patients with a suspected genetic condition. In complex and...
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POT1a deficiency in mesenchymal niches perturbs B-lymphopoiesis
Protection of telomeres 1a (POT1a) is a telomere binding protein. A decrease of POT1a is related to myeloid-skewed haematopoiesis with ageing,...
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Epigenetic Epidemiology of Inflammation and Rheumatoid Arthritis
The field of epigenetic research has evolved dramatically in recent years and has given valuable insight into regulation and dysregulation of gene...
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The Utility of Twins for Epigenetic Analysis
Twin studies have played an important role in our understanding of individual variation for over a century. The strength of these lies in the...
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Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder
IQSEC2 is an X-linked gene highly expressed at the excitatory synapses where it plays a crucial role in...
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Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics
Choroideremia is an X-linked, blinding retinal degeneration with progressive loss of photoreceptors, retinal pigment epithelial (RPE) cells, and...
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Perturbed maintenance of transcriptional repression on the inactive X-chromosome in the mouse brain after **st deletion
BackgroundThe long noncoding RNA **st is critical for initiation and establishment of X-chromosome inactivation during embryogenesis in mammals, but...
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Mitochondrial variant enrichment from high-throughput single-cell RNA sequencing resolves clonal populations
The combination of single-cell transcriptomics with mitochondrial DNA variant detection can be used to establish lineage relationships in primary...
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SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data
BackgroundRecent studies have demonstrated the utility of scRNA-seq SNVs to distinguish tumor from normal cells, characterize intra-tumoral...
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Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia
BackgroundIn mammals, hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that is characterized by sparse hair, tooth abnormalities, and...
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Generation of Isogenic Controls for In Vitro Disease Modelling of X-Chromosomal Disorders
Generation of proper controls is crucial in induced pluripotent stem cell (iPSC) studies. X-chromosomal disorders offer the potential to develop...
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Detection of allele-specific expression in spatial transcriptomics with spASE
Spatial transcriptomics technologies permit the study of the spatial distribution of RNA at near-single-cell resolution genome-wide. However, the...
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Novel neoplasms associated with syndromic pediatric medulloblastoma: integrated pathway delineation for personalized therapy
Medulloblastoma is the most common pediatric embryonal brain tumor, and may occur in cancer predisposition syndromes. We describe novel associations...
