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Article
Open AccessHigh risk clear cell renal cell carcinoma microenvironments contain protumour immunophenotypes lacking specific immune checkpoints
Perioperative immune checkpoint inhibitor (ICI) trials for intermediate high-risk clear cell renal cell carcinoma (ccRCC) have failed to consistently demonstrate improved patient outcomes. These unsuccessful I...
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Article
Open AccessSpatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition
Medulloblastoma (MB) is a malignant tumour of the cerebellum which can be classified into four major subgroups based on gene expression and genomic features. Single-cell transcriptome studies have defined the ...
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Spatial Transcriptomics in Kidney Tissue
Unlike bulk and single-cell/single-nuclei RNA sequencing methods, spatial transcriptome sequencing (ST-seq) resolves transcriptome expression within the spatial context of intact tissue. This is achieved by in...
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Article
Open AccessAltered differentiation of endometrial mesenchymal stromal fibroblasts is associated with endometriosis susceptibility
Cellular development is tightly regulated as mature cells with aberrant functions may initiate pathogenic processes. The endometrium is a highly regenerative tissue, shedding and regenerating each month. Endom...
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Open Access‘The hardest job I’ve ever done’: a qualitative exploration of the factors affecting junior doctors’ mental health and well-being during medical training in Australia
Medical practitioners can experience considerable stress and poor mental health during their careers, with doctors in training known to be particularly vulnerable. Previous research has documented work-related...
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Article
Open AccessGenotype-free demultiplexing of pooled single-cell RNA-seq
A variety of methods have been developed to demultiplex pooled samples in a single cell RNA sequencing (scRNA-seq) experiment which either require hashtag barcodes or sample genotypes prior to pooling. We intr...
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Article
Open AccessX-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent g...
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Article
Open AccessThe Evx1/Evx1as gene locus regulates anterior-posterior patterning during gastrulation
Thousands of sense-antisense mRNA-lncRNA gene pairs occur in the mammalian genome. While there is usually little doubt about the function of the coding transcript, the function of the lncRNA partner is mostly ...
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Article
Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing
CaptureSeq was used to quantitatively profile transcripts with low expression, resulting in a catalog of long noncoding RNA expression in 20 human tissues.
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Correction: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
Nat. Genet. 47, 73–77 (2015); published online 24 November 2014; corrected after print 6 February 2015 In the version of this article initially published, in Figure 2a, the order of the protein alterations for...
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Article
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
Cas Simons, Ryan Taft and colleagues report the identification of KCNH1 mutations in six individuals with Temple-Baraitser syndrome (TBS). Electrophysiological measurements of cells expressing mutant KCNH1 channe...
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Article
Targeted sequencing for gene discovery and quantification using RNA CaptureSeq
RNA sequencing (RNAseq) samples the majority of expressed genes infrequently, owing to the large size, complex splicing and wide dynamic range of eukaryotic transcriptomes. This results in sparse sequencing co...
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Article
Targeted RNA sequencing reveals the deep complexity of the human transcriptome
Rare transcripts remain enigmatic in part because they are difficult to detect robustly on a large scale. Mercer et al. show that targeted RNA sequencing after array capture can reach saturating depth at the targ...
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Article
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene
The 16p13.3 breakpoints of two de novo translocations of chromosome 16, t(1;16) and t(14;16), were shown by initial map** studies to have physically adjacent breakpoints. The translocations were ascertained ...
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Article
Location and Structure of the Human FHR-5 Gene
The factor H family of genes has been localised to human chromosome 1q32. This region encodes various proteins involved in complement regulation and is known as the regulators of complement activation (RCA) ge...
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Article
Positional cloning of the Fanconi anaemia group A gene
The Fanconi anaemia/Breast cancer consortium* Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of congenital abnormalities, and predisposition ...
