A5009294539- Pluripotent Stem Cells Research
- RNA Research and Splicing
- CRISPR and Genetic Engineering
- Olfactory and Sensory Function Studies
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Genetics and Neurodevelopmental Disorders
- Renal and related cancers
- Sperm and Testicular Function
- Reproductive Biology and Fertility
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Reproductive System and Pregnancy
- Neurobiology and Insect Physiology Research
- Family and Disability Support Research
- Prenatal Screening and Diagnostics
- Tissue Engineering and Regenerative Medicine
- Animal Genetics and Reproduction
- Parvovirus B19 Infection Studies
- Biochemical Analysis and Sensing Techniques
- Pregnancy and preeclampsia studies
- Extracellular vesicles in disease
- Single-cell and spatial transcriptomics
- Cancer Genomics and Diagnostics
- Genomics and Chromatin Dynamics
- Blood groups and transfusion
University of California, San Diego
2016-2024
La Jolla Alcohol Research
2023
Sanford Consortium for Regenerative Medicine
2022
Gene duplication is a major evolutionary force driving adaptation and speciation, as it allows for the acquisition of new functions can augment or diversify existing functions. Here, we report gene event that yielded another outcome--the generation antagonistic One product this event--UPF3B--is critical nonsense-mediated RNA decay (NMD) pathway, while its autosomal counterpart--UPF3A--encodes an enigmatic protein previously shown to have trace NMD activity. Using loss-of-function approaches...
Trophoblast stem cells (TSCs) have recently been derived from human embryos and early-first-trimester placenta; however, aside ethical challenges, the unknown disease potential of these limits their scientific utility. We previously established a bone morphogetic protein 4 (BMP4)-based two-step protocol for differentiation primed pluripotent (hPSCs) into functional trophoblasts; those trophoblasts could not be maintained in self-renewing TSC-like state. Here, we use first step this protocol,...
As the cost of next-generation sequencing has decreased, library preparation costs have become a more significant proportion total cost, especially for high-throughput applications such as single-cell RNA profiling. Here, we applied novel technologies to scale down reaction volumes preparation. Our system consisted in vitro differentiated human embryonic stem cells representing two stages pancreatic differentiation, which prepared multiple biological and technical replicates. We used...
Human embryo implantation is remarkably inefficient, and failure remains among the greatest obstacles in treating infertility. Gene expression data from human embryos have accumulated rapidly recent years; however, identification of subset genes that determine successful a challenge. We leverage clinical morphologic grading—known for decades to correlate with potential—and transcriptome analyses matched embryonic abembryonic samples identify factors pathways enriched depleted blastocysts...
Testis-expressed X-linked genes typically evolve rapidly. Here, we report on a testis-expressed microRNA (miRNA) cluster that despite rapid alterations in sequence has retained its position the Fragile-X region of X chromosome placental mammals. Surprisingly, miRNAs encoded by this (Fx-mir) have predilection for targeting immediately adjacent gene, Fmr1, an unexpected finding given usually act trans, not cis Robust repression Fmr1 is conferred combinations Fx-mir induced Sertoli cells (SCs)...
The UPF3B-dependent branch of the nonsense-mediated RNA decay (NMD) pathway is critical for human cognition. Here, we examined role UPF3B in olfactory system. Single-cell RNA-sequencing (scRNA-seq) analysis demonstrated considerable heterogeneity sensory neuron (OSN) cell populations wild-type (WT) mice, and revealed that loss influences specific subsets these populations. also regulates expression a large cadre antimicrobial genes OSNs, promotes selection receptor (
Nonsense-mediated RNA decay (NMD) is a highly conserved turnover pathway that degrades RNAs harboring in-frame stop codons in specific contexts. Loss of NMD factors leads to embryonic lethality organisms spanning the phylogenetic scale, but mechanism remains unknown. Here, we report core factor, UPF2, required for expansion epiblast cells within inner cell mass mice vivo. We identify target mRNAs mouse blastocysts - both canonical and alternatively processed including those encoding cycle...
Abstract Nonsense-mediated RNA decay (NMD) is a highly conserved and selective turnover pathway that depends on the endonuclease SMG6. Here, we show SMG6 essential for male germ cell differentiation in mice. Germ-cell conditional knockout (cKO) of Smg6 induces extensive transcriptome misregulation, including failure to eliminate meiotically expressed transcripts early haploid cells, accumulation NMD target mRNAs with long 3′ untranslated regions (UTRs). Loss germline results complete arrest...
Anti-IH is a common cold agglutinin that typically clinically insignificant. We present case resulted in hemolysis. A 32-year-old male patient with transfusion-independent beta-thalassemia intermedia presented symptomatic anemia. His blood sample typed as group B, D+ and demonstrated multiple alloantibodies autoantibodies. He was transfused uneventfully, but re-presented 10 days later recurrent, worsening At this time, transfusion of O, phenotype-matched red cells (RBCs) an acute hemolytic...
Abstract Embryo implantation in humans is remarkably inefficient for reasons that remain largely unexplained, and high rates of failure one the greatest obstacles treating infertility. The volume gene expression data available from human embryos has rapidly accumulated recent years. However, prioritization these to identify subset genes determine successful remains a challenge, part, because comprehensive analyses cannot be performed on same are transferred. Here, we leverage clinical...