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Research

Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial disease

We report for the first time that a common stress condition, such as viral infection, can exacerbate mitochondrial dysfunction in a genetic model of mitochondrial disease

Research

Pets Are Associated with Fewer Peer Problems and Emotional Symptoms, and Better Prosocial Behavior: Findings from the Longitudinal Study of Australian Children

Pets may protect children from developing social-emotional problems and should be taken into account when assessing child development and school readiness

Research

Hospital admissions in children with developmental disabilities from ethnic minority backgrounds

Children with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life

Research

A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease

We have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication

Research

Inflammatory bowel diseases: interrelationships between dietary vitamin D, exposure to UV radiation and the fecal microbiome

This review explores the interaction of vitamin D, and ultraviolet radiation, with the intestinal innate and adaptive immune systems

Research

Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective

The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children

Research

QuantSeq. 3′ Sequencing combined with Salmon provides a fast, reliable approach for high throughput RNA expression analysis

QuantSeq, coupled with a fast quantification method such as Salmon, should provide a viable alternative to traditional RNA-Seq in many applications

Research

Allograft outcome following repeat transplantation of patients with non-adherence-related first kidney allograft failure: a population cohort study

The associations between causes of first allograft failure and acute rejection-related and non-adherence-related allograft failure following re-transplantation

Research

PTPN2 phosphatase deletion in T cells promotes anti-tumour immunity and CAR T-cell efficacy in solid tumours

Our findings define PTPN2 as a target for bolstering T-cell-mediated anti-tumour immunity and CAR T-cell therapy against solid tumours.

Research

Genome mining and characterisation of a novel transaminase with remote stereoselectivity

Here we report a novel ω-transaminase discovered in a marine sponge Pseudovibrio sp. isolate