Skip to content

Search

Showing results for "Neuromuscular disorders "

Multi-omic profiling reveals an RNA processing rheostat that predisposes to prostate cancer

Prostate cancer is the most commonly diagnosed malignancy and the third leading cause of cancer deaths. GWAS have identified variants associated with prostate cancer susceptibility; however, mechanistic and functional validation of these mutations is lacking.

Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translation

The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially.

The inhibitory and inactivating effects of visible light on SARS-CoV-2: A narrative update

Prior to the coronavirus disease-19 pandemic, the germicidal effects of visible light were well known. This review provides an overview of new findings that suggest there are direct inactivating effects of visible light - particularly blue wavelengths on exposed severe acute respiratory syndrome coronavirus 2 virions, and inhibitory effects on viral replication in infected cells. These findings complement emerging evidence that there may be clinical benefits of orally administered blue light for limiting the severity of COVID-19.

“It Was Such a Different Experience”: a Qualitative Study of Parental Perinatal Experiences When Having a Subsequent Child After Having a Child Diagnosed with Autism

Children who have an older sibling diagnosed with autism have an increased likelihood of being diagnosed with autism or developing broader developmental difficulties. This study explored perinatal experiences of parents of a child diagnosed with autism, spanning pre-conception until the subsequent child’s early developmental period.

Body mass index, prebiotic supplementation during pregnancy and gestational diabetes mellitus risk: an effect modification analysis from a randomised controlled trial

Prebiotic dietary supplementation has been shown to improve glucose homeostasis in type 2 diabetes patients. The aim of this analysis was to determine whether pre-pregnancy body mass index (BMI) modifies the effect of prebiotic supplementation from mid-pregnancy on reducing the risk of gestational diabetes mellitus

ORIGINS: Nutritional Profile of Children Aged One Year in a Longitudinal Birth Cohort

Dietary intake during the first year of life is a key determinant of a child's growth and development. ORIGINS is a longitudinal birth cohort study investigating factors that contribute to a 'healthy start to life' and the prevention of non-communicable diseases.

Confident and Trustworthy Model for Fidgety Movement Classification

General movements (GMs) are part of the spontaneous movement repertoire and are present from early fetal life onwards up to age five months. GMs are connected to infants' neurological development and can be qualitatively assessed via the General Movement Assessment. In particular, between the age of three to five months, typically developing infants produce fidgety movements and their absence provides strong evidence for the presence of cerebral palsy.

Early diagnosis for kids with autism

Focussing attention on a child’s first year of life is proving to be a major breakthrough in autism research.

Celebrating 25 years

As our Founding Director Fiona Stanley puts it, The Kids Research Institute Australia was formed on a "wing and a prayer".

Persistent Effects of Maternal Smoking during Pregnancy on Lung Function and Asthma in Adolescents

The extent to which maternal smoking in pregnancy (MSP) has persisting effects on respiratory health remains uncertain and the mechanisms involved are not...