Russell G. Snell
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View article: Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Structural and epistatic regulatory variants cause hallmark white spotting in cattle Open
Despite being one of the most iconic and immediately recognizable traits in domestic cattle, the variants underpinning the white-spotted coat pattern of Holstein-Friesian and related breeds remain uncharacterized. Here, we report two varia…
View article: Does telomere length mediate the association between early life adversity and mental health in childhood?
Does telomere length mediate the association between early life adversity and mental health in childhood? Open
ELA influences children's mental well-being and telomere length. Surprisingly, telomere length was longer following ELA, which may be a compensatory mechanism to regulate the effects of accelerated telomere attrition in response to adversi…
View article: A novel frameshift variant in ALS2 associated with segmental axonopathy in Merino sheep
A novel frameshift variant in ALS2 associated with segmental axonopathy in Merino sheep Open
View article: Molecular architecture of language‐related cortical areas revealed by integrative proteomic and connectome analyses
Molecular architecture of language‐related cortical areas revealed by integrative proteomic and connectome analyses Open
Background Protein expression asymmetry between brain hemispheres is hypothesized to influence functional connectivity, yet its role in language‐related networks remains poorly understood. Additionally, how such molecular differences relat…
View article: Morula complementation restores male germline in <i>NANOS2</i> null sheep
Morula complementation restores male germline in <i>NANOS2</i> null sheep Open
Current livestock breeding is slow to respond to rapidly mounting environmental pressures that threaten sustainable animal protein production. New approaches can accelerate genetic improvement by multiplying valuable embryonic, rather than…
View article: Presenilin 1 hemizygosity has no overt deleterious phenotypic outcomes in sheep: Potential implications for therapeutic targets in Alzheimer's disease
Presenilin 1 hemizygosity has no overt deleterious phenotypic outcomes in sheep: Potential implications for therapeutic targets in Alzheimer's disease Open
Alzheimer's disease (AD) is a neurodegenerative condition and one of the most significant medical challenges today. Dominant mutations causing early-onset AD have been identified in the presenilin 1 and 2 (PSEN1 and PSEN2), and the amyloid…
View article: Comparison of genomic prediction accuracies in dairy cattle lactation traits using five classes of functional variants versus generic SNP
Comparison of genomic prediction accuracies in dairy cattle lactation traits using five classes of functional variants versus generic SNP Open
Background Genomic selection, typically employing genetic markers from SNP chips, is routine in modern dairy cattle breeding. This study assessed the impact of functional sequence variants on genomic prediction accuracy relative to 50 k SN…
View article: Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review
Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review Open
Autosomal dominant variants in transcription factor 20 ( TCF20 ) can result in TCF20 -associated neurodevelopmental disorder (TAND), a condition characterized by developmental delay and intellectual disability, autism, dysmorphisms, dyston…
View article: Exploring PDE5A upregulation in bipolar disorder: insights from single-nucleus RNA sequencing of human basal ganglia
Exploring PDE5A upregulation in bipolar disorder: insights from single-nucleus RNA sequencing of human basal ganglia Open
Basal ganglia is proposed to mediate symptoms underlying bipolar disorder (BD). To understand the cell type-specific gene expression and network changes of BD basal ganglia, we performed single-nucleus RNA sequencing of 30,752 nuclei from …
View article: Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand Open
Autism is a relatively common neurodevelopmental difference with considerable phenotypic heterogeneity impacting cognitive, sensory, and social processing, and often co-occurs with other conditions. Therefore, there is not a one-size-fits-…
View article: Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington’s disease model
Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington’s disease model Open
Huntington’s disease (HD) is a neurodegenerative genetic disorder caused by an expansion in the CAG repeat tract of the huntingtin (HTT) gene resulting in behavioural, cognitive, and motor defects. Current knowledge of disease pathogenesis…
View article: A common regulatory haplotype doubles lactoferrin concentration in milk
A common regulatory haplotype doubles lactoferrin concentration in milk Open
Background Bovine lactoferrin (Lf) is an iron absorbing whey protein with antibacterial, antiviral, and antifungal activity. Lactoferrin is economically valuable and has an extremely variable concentration in milk, partly driven by environ…
View article: ICARUS v3, a massively scalable web server for single-cell RNA-seq analysis of millions of cells
ICARUS v3, a massively scalable web server for single-cell RNA-seq analysis of millions of cells Open
Motivation In recent years, improvements in throughput of single-cell RNA-seq have resulted in a significant increase in the number of cells profiled. The generation of single-cell RNA-seq datasets comprising >1 million cells is becomin…
View article: Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington’s Disease
Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington’s Disease Open
Somatic instability of the huntingtin (HTT) CAG repeat mutation modifies age-at-onset of Huntington’s disease (HD). Understanding the mechanism and pathogenic consequences of instability may reveal therapeutic targets. Using small-pool PCR…
View article: A novel 11 base pair deletion in <scp><i>KMT2C</i></scp> resulting in Kleefstra syndrome 2
A novel 11 base pair deletion in <span><i>KMT2C</i></span> resulting in Kleefstra syndrome 2 Open
Background Haploinsufficiency of the Lysine Methyltransferase 2C (KMT2C) gene results in the autosomal dominant disorder, Kleefstra syndrome 2. It is an extremely rare neurodevelopmental condition, with 14 previous reports describing varie…
View article: ICARUS v3, a massively scalable web server for single cell RNA-seq analysis of millions of cells
ICARUS v3, a massively scalable web server for single cell RNA-seq analysis of millions of cells Open
In recent years, improvements in throughput of single cell RNA-seq have resulted in a significant increase in the number of cells profiled. The generation of single cell RNA-seq datasets comprising >1 million cells is becoming increasingly…
View article: Correction: Castration delays epigenetic aging and feminizes DNA methylation at androgen-regulated loci
Correction: Castration delays epigenetic aging and feminizes DNA methylation at androgen-regulated loci Open
View article: From Pathogenesis to Therapeutics: A Review of 150 Years of Huntington’s Disease Research
From Pathogenesis to Therapeutics: A Review of 150 Years of Huntington’s Disease Research Open
Huntington’s disease (HD) is a debilitating neurodegenerative genetic disorder caused by an expanded polyglutamine-coding (CAG) trinucleotide repeat in the huntingtin (HTT) gene. HD behaves as a highly penetrant dominant disorder likely ac…
View article: Soluble wild-type ACE2 molecules inhibit newer SARS-CoV-2 variants and are a potential antiviral strategy to mitigate disease severity in COVID-19
Soluble wild-type ACE2 molecules inhibit newer SARS-CoV-2 variants and are a potential antiviral strategy to mitigate disease severity in COVID-19 Open
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for coronavirus disease of 2019 (COVID-19), has caused havoc around the world. While several COVID-19 vaccines and drugs have been authorized for use, thes…
View article: Evidence for glutamate excitotoxicity that occurs before the onset of striatal cell loss and motor symptoms in an ovine Huntington’s Disease model
Evidence for glutamate excitotoxicity that occurs before the onset of striatal cell loss and motor symptoms in an ovine Huntington’s Disease model Open
Background Huntington’s disease (HD) is a neurodegenerative genetic disorder caused by an expansion in the CAG repeat tract of the huntingtin ( HTT ) gene resulting in a triad of behavioural, cognitive, and motor defects. Current knowledge…
View article: Evidence for glutamate excitotoxicity that occurs before the onset of cell loss and motor symptoms in an ovine Huntington's Disease model.
Evidence for glutamate excitotoxicity that occurs before the onset of cell loss and motor symptoms in an ovine Huntington's Disease model. Open
Background Huntington’s disease (HD) is a neurodegenerative genetic disorder caused by an expansion in the CAG repeat tract of the huntingtin (HTT) gene resulting in a triad of behavioural, cognitive, and motor de…
View article: Successful editing and maintenance of lactogenic gene expression in primary bovine mammary epithelial cells
Successful editing and maintenance of lactogenic gene expression in primary bovine mammary epithelial cells Open
View article: Isolated nuclei from frozen tissue are the superior source for single cell RNA-seq compared with whole cells
Isolated nuclei from frozen tissue are the superior source for single cell RNA-seq compared with whole cells Open
The isolation of intact single cells from frozen tissue is a challenge due to the mechanical and physical stress inflicted upon the cell during the freeze-thaw process. Ruptured cells release ambient RNA into the cell suspension, which can…
View article: Delineation of complex gene expression patterns in single cell RNA-seq data with ICARUS v2.0
Delineation of complex gene expression patterns in single cell RNA-seq data with ICARUS v2.0 Open
Complex biological traits and disease often involve patterns of gene expression that can be characterised and examined. Here we present ICARUS v2.0, an update to our single cell RNA-seq analysis web server with additional tools to investig…
View article: Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of <i>CARS2</i>‐related mitochondrial disease
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of <i>CARS2</i>‐related mitochondrial disease Open
Disorders of mitochondrial function are a collectively common group of genetic diseases in which deficits in core mitochondrial translation machinery, including aminoacyl tRNA synthetases, are key players. Biallelic variants in the CARS2 g…
View article: Delineation of complex gene expression patterns in single cell RNA-seq data with ICARUS v2.0
Delineation of complex gene expression patterns in single cell RNA-seq data with ICARUS v2.0 Open
Complex biological traits and disease often involve patterns of gene expression that can be characterised and examined. Here we present ICARUS v2.0, an update to our single cell RNA-seq analysis web server with additional tools to investig…
View article: Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer
Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer Open
View article: ICARUS, an interactive web server for single cell RNA-seq analysis
ICARUS, an interactive web server for single cell RNA-seq analysis Open
Here we present ICARUS, a web server to enable users without experience in R to undertake single cell RNA-seq analysis. The focal point of ICARUS is its intuitive tutorial-style user interface, designed to guide logical navigation through …
View article: Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP
Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP Open
View article: A Capra hircus chromosome 19 locus linked to milk production influences mammary conformation
A Capra hircus chromosome 19 locus linked to milk production influences mammary conformation Open