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 …
Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
A gene-specific T2A-GAL4 library for Drosophila
PT Lee, J Zirin, O Kanca, WW Lin, KL Schulze… - elife, 2018 - elifesciences.org
We generated a library of~ 1000 Drosophila stocks in which we inserted a construct in the
intron of genes allowing expression of GAL4 under control of endogenous promoters while …
intron of genes allowing expression of GAL4 under control of endogenous promoters while …
[HTML][HTML] Regulatory roles of mitochondria and metabolism in neurogenesis
Neural stem cells (NSCs) undergo massive molecular and cellular changes during neuronal
differentiation. These include mitochondria and metabolism remodelling, which were …
differentiation. These include mitochondria and metabolism remodelling, which were …
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels
In most eukaryotic cells, fatty acid synthesis (FAS) occurs in the cytoplasm and in
mitochondria. However, the relative contribution of mitochondrial FAS (mtFAS) to the cellular …
mitochondria. However, the relative contribution of mitochondrial FAS (mtFAS) to the cellular …
Model organisms facilitate rare disease diagnosis and therapeutic research
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly
involve the use of next-generation sequencing and comparative genomic hybridization …
involve the use of next-generation sequencing and comparative genomic hybridization …
An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms
We previously reported a CRISPR-mediated knock-in strategy into introns of Drosophila
genes, generating an attP-FRT-SA-T2A-GAL4-polyA-3XP3-EGFP-FRT-attP transgenic …
genes, generating an attP-FRT-SA-T2A-GAL4-polyA-3XP3-EGFP-FRT-attP transgenic …
The existence of a nonclassical TCA cycle in the nucleus that wires the metabolic-epigenetic circuitry
X Liu, W Si, L He, J Yang, Y Peng, J Ren… - Signal transduction and …, 2021 - nature.com
The scope and variety of the metabolic intermediates from the mitochondrial tricarboxylic
acid (TCA) cycle that are engaged in epigenetic regulation of the chromatin function in the …
acid (TCA) cycle that are engaged in epigenetic regulation of the chromatin function in the …
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
T Mitani, S Isikay, A Gezdirici, EY Gulec… - The American Journal of …, 2021 - cell.com
Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many
such disorders are secondary to perturbation in brain development and/or function. The …
such disorders are secondary to perturbation in brain development and/or function. The …
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
Decreased sequencing costs have led to an explosion of genetic and genomic data. These
data have revealed thousands of candidate human disease variants. Establishing which …
data have revealed thousands of candidate human disease variants. Establishing which …