Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …
variants of interest in individuals with rare diseases. However, showing that these variants …
A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins
Development of effective therapies against SARS-CoV-2 infections relies on mechanistic
knowledge of virus-host interface. Abundant physical interactions between viral and host …
knowledge of virus-host interface. Abundant physical interactions between viral and host …
A nerve-wracking buzz: lessons from Drosophila models of peripheral neuropathy and axon degeneration
MRC Bhattacharya - Frontiers in Aging Neuroscience, 2023 - frontiersin.org
The degeneration of axons and their terminals occurs following traumatic, toxic, or
genetically-induced insults. Common molecular mechanisms unite these disparate triggers …
genetically-induced insults. Common molecular mechanisms unite these disparate triggers …
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
We examined the utility of clinical and research processes in the reanalysis of publicly‐
funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites …
funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites …
[HTML][HTML] Charting the shared genetic architecture of Alzheimer's disease, cognition, and educational attainment, and associations with brain development
The observation that the risk of develo** Alzheimer's disease is reduced in individuals
with high premorbid cognitive functioning, higher educational attainment, and occupational …
with high premorbid cognitive functioning, higher educational attainment, and occupational …
Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model
W Sheng, P Wang, Y Cai, C Zhai, H Wang… - Clinical …, 2024 - Wiley Online Library
Abstract ATP6V1B2 encodes the subunit of the vacuolar H+‐ATPase, which is an enzyme
responsible for the acidification of intracellular organelles and essential for cell signaling …
responsible for the acidification of intracellular organelles and essential for cell signaling …
NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model
Abstract Two Jack-Russell Terrier× Chihuahua mixed-breed littermates with Leigh syndrome
were investigated. The dogs presented with progressive ataxia, dystonia, and increased …
were investigated. The dogs presented with progressive ataxia, dystonia, and increased …
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Abstract Purpose Fem1 homolog B (FEM1B) acts as a substrate recognition subunit for
ubiquitin ligase complexes belonging to the CULLIN 2-based E3 family. Several biological …
ubiquitin ligase complexes belonging to the CULLIN 2-based E3 family. Several biological …
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian …
The introduction of clinical exome sequencing (ES) has provided a unique opportunity to
decrease the diagnostic odyssey for patients living with a rare genetic disease (RGD). ES …
decrease the diagnostic odyssey for patients living with a rare genetic disease (RGD). ES …
GREGoR: Accelerating Genomics for Rare Diseases
Rare diseases are collectively common, affecting approximately one in twenty individuals
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …