Publications by authors named "Isaac R L Xu"

The function and homeostasis of the mammalian ovary depend on complex paracrine interactions between multiple cell types. Using primary mouse tissues and isolated cells, we showed in vitro that ovarian follicles secrete factor(s) that suppresses the growth of ovarian epithelial cells in culture. Most of the growth suppressive activity was accounted for by Anti-Mullerian Hormone/Mullerian Inhibitory Substance (AMH/MIS) secreted by granulosa cells of the follicles, as determined by immune depletion experiments.

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Article Synopsis
  • Human genetics research has made a lot of progress in finding out what causes diseases over the last ten years, thanks to sharing data and working together.
  • The GENESIS platform helps scientists who may not know a lot about bioinformatics to analyze genetics data and discover new disease genes.
  • With over 20,000 datasets from rare disease patients, GENESIS has contributed to discovering more than 100 new genes and helped solve many cases for patients with rare diseases.
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DNA-based therapeutics have emerged as a revolutionary approach for addressing the treatment gap in rare inherited conditions by targeting the fundamental genetic causes of disease. Charcot-Marie-Tooth (CMT) disease, a group of inherited neuropathies, represents one of the most prevalent Mendelian disease groups in neurology and is characterized by diverse genetic aetiology. Axonal forms of CMT, known as CMT2, are caused by dominant mutations in >30 different genes that lead to degeneration of lower motor neuron axons.

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Article Synopsis
  • The study investigates the factors affecting the expansion of tandem repeats, focusing on the FGF14 (GAA)·(TTC) repeat locus in a large sample of 2,530 individuals through advanced sequencing techniques.
  • Researchers discovered a prevalent 5'-flanking variant present in over 70% of alleles, which is linked to nonpathogenic alleles and the ancestral lineage of this genetic marker.
  • This common variant is associated with greater stability of the tandem repeat during inheritance and improved accessibility of chromatin, suggesting a role in preventing pathological expansion.
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Background: Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable variability in clinical severity. It is hypothesized that genetic modifiers contribute to this heterogeneity, the identification of which may reveal novel therapeutic targets.

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The recent integration of open-source data with machine learning models, especially in the medical field, has opened new doors to studying disease progression and/or regression. However, the ability to use medical data for machine learning approaches is limited by the specificity of data for a particular medical condition. In this context, the most recent technologies, like generative adversarial networks (GANs), are being looked upon as a potential way to generate high-quality synthetic data that preserve the clinical variability of a condition.

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