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De Novo Long-Read Genome Assembly and Annotation of the Mosquito Gut-Dwelling Fungus, Smittium minutisporum.
Genome Biol Evol
December 2024
Department of Biological Sciences, University of Toronto Scarborough, Toronto, ON, Canada M1C 1A4.
Mosquito guts host a variety of microbes, yet fungi are often overlooked. Smittium (Harpellales, Zoopagomycota) comprises numerous species that are obligate symbionts residing in the hindgut of mosquito larvae. Despite their association with pathogen-bearing vectors, these fungal symbionts remain understudied, largely due to the lack of high-quality genome resources.
View Article and Find Full Text PDFMultiplexed perturbation of yew reveals cryptic proteins that enable a total biosynthesis of baccatin III and Taxol precursors.
bioRxiv
November 2024
Department of Chemical Engineering, Stanford University, California 94305.
Plants make complex and potent therapeutic molecules, but difficulties in sourcing from natural producers or chemical synthesis can challenge their use in the clinic. A prominent example is the anti-cancer therapeutic paclitaxel (Taxol). Identification of the full paclitaxel biosynthetic pathway would enable heterologous drug production, but it has eluded discovery despite a half century of intensive research.
View Article and Find Full Text PDFRNA-First Approach Identifies Deep Intronic PHEX Variants in X-Linked Hypophosphatemic Rickets.
J Clin Endocrinol Metab
November 2024
Shriners Hospital for Children - Canada, Montreal, QC, Canada.
Article Synopsis
- * A study with four children diagnosed with XLH sought to find hidden variants in the PHEX gene that could lead to mis-splicing.
- * The results indicated that three of the four patients had PHEX mis-splicing, with specific deep intronic variants identified that contributed to their condition, suggesting that more detailed analysis could help uncover genetic causes in patients previously thought to lack identifiable mutations.
Creation of de novo cryptic splicing for ALS and FTD precision medicine.
Science
October 2024
UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Article Synopsis
- The study focuses on TDP-REG, a tool designed to take advantage of the specific splicing changes caused by TDP-43 loss of function (TDP-LOF), which is linked to ALS and similar neurodegenerative diseases.
- It utilizes a deep learning algorithm, SpliceNouveau, to create customizable splicing events that enhance protein expression correlated with the disease state, both in lab settings (in vitro) and in living organisms (in vivo).
- TDP-REG allows for targeted editing of genetic sequences, potentially correcting harmful splicing effects and leading to new precision treatment approaches for disorders related to TDP-43.
[Prenatal diagnosis and genetic analysis of two fetuses with Wolf-Hirschhorn syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Center for Molecular Diagnostics, Qingyuan Hospital Affiliated to Guangzhou Medical University, Qingyuan People's Hospital, Qingyuan, Guangdong 511518, China.
Objetive: To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).
Methods: A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People's Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA).
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