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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

Journal Article

To date, mutations in 15 actin- or microtubule-associated genes have been associated with the cortical malformation lissencephaly and variable brainstem hypoplasia. During a multicenter review, we recognized a rare lissencephaly variant with a complex...

Ocular Genomics Institute

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Director Eric A. Pierce, MD, PhD Associate Directors Elizabeth Engle, MD Luk H. Vandenberghe, PhD Janey L. Wiggs, MD, PhD Members See a list of OGI faculty Visit the OGI website The Ocular Genomics Institute (OGI) aims to translate genomic medicine into...

Comparative genomic analysis of two emergent human adenovirus type 14 respiratory pathogen isolates in China reveals similar yet divergent genomes

Journal Article

Human adenovirus type 14 (HAdV-B14p) was originally identified as an acute respiratory disease (ARD) pathogen in The Netherlands in 1955. For approximately fifty years, few sporadic infections were observed. In 2005, HAdV-B14p1, a genomic variant, re...

In Situ Modification of Tissue Stem and Progenitor Cell Genomes

Journal Article

In vivo delivery of genome-modifying enzymes holds significant promise for therapeutic applications and functional genetic screening. Delivery to endogenous tissue stem cells, which provide an enduring source of cell replacement during homeostasis and...

A Zoonotic Adenoviral Human Pathogen Emerged through Genomic Recombination among Human and Nonhuman Simian Hosts

Journal Article

Genomics analysis of a historically intriguing and predicted emergent human adenovirus (HAdV) pathogen, which caused pneumonia and death, provides insight into a novel molecular evolution pathway involving "ping-pong" zoonosis and anthroponosis. The...

Mapping Transposon Insertions in Bacterial Genomes by Arbitrarily Primed PCR

Journal Article

Transposons can be used to easily generate and label the location of mutations throughout bacterial and other genomes. Transposon insertion mutants may be screened for a phenotype as individual isolates, or by selection applied to a pool of thousands of...

Genomic evidence of SARS-CoV-2 reinfection cases in southern Brazil

Journal Article

Cases of reinfection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have been reported worldwide. We investigated reinfection cases in a set of more than 30,000 samples, and the SARS-CoV-2 genomes from selected samples from four...

Genome editing abrogates angiogenesis in vivo

Journal Article

Angiogenesis, in which vascular endothelial growth factor receptor (VEGFR) 2 plays an essential role, is associated with a variety of human diseases including proliferative diabetic retinopathy and wet age-related macular degeneration. Here we report that...

Genome Sequence of a Cynomolgus Macaque Adenovirus (CynAdV-1) Isolate from a Primate Colony in the United Kingdom.

Journal Article

The genome sequence of a simian adenovirus from a cynomolgus macaque, denoted CynAdV-1, is presented here. Phylogenetic analysis supports CynAdV-1 in an independent clade, comprising a new simian adenovirus (SAdV) species. These genome data are critical...

Genomic analysis of a large set of currently-and historically-important human adenovirus pathogens

Journal Article

Human adenoviruses (HAdVs) are uniquely important "model organisms" as they have been used to elucidate fundamental biological processes, are recognized as complex pathogens, and are used as remedies for human health. As pathogens, HAdVs may effect...

Genome Editing of Pik3cd Impedes Abnormal Retinal Angiogenesis

Journal Article

Abnormal angiogenesis is associated with myriad human diseases, including proliferative diabetic retinopathy (PDR). Signaling transduction through phosphoinositide 3-kinases (PI3Ks) plays a critical role in angiogenesis. Herein, we showed that p110δ, the...

Genome-Wide Associations and Confirmatory Meta-Analyses in Diabetic Retinopathy

Journal Article

The present study aimed to summarize and validate the genomic association signals for diabetic retinopathy (DR), proliferative DR, and diabetic macular edema/diabetic maculopathy. A systematic search of the genome-wide association study (GWAS) catalog and...

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351 results for "Genomics"

351 results for "Genomics"

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

Ocular Genomics Institute

Comparative genomic analysis of two emergent human adenovirus type 14 respiratory pathogen isolates in China reveals similar yet divergent genomes

In Situ Modification of Tissue Stem and Progenitor Cell Genomes

A Zoonotic Adenoviral Human Pathogen Emerged through Genomic Recombination among Human and Nonhuman Simian Hosts

Mapping Transposon Insertions in Bacterial Genomes by Arbitrarily Primed PCR

Genomic evidence of SARS-CoV-2 reinfection cases in southern Brazil

Genome editing abrogates angiogenesis in vivo

Genome Sequence of a Cynomolgus Macaque Adenovirus (CynAdV-1) Isolate from a Primate Colony in the United Kingdom.

Genomic analysis of a large set of currently-and historically-important human adenovirus pathogens

Genome Editing of Pik3cd Impedes Abnormal Retinal Angiogenesis

Genome-Wide Associations and Confirmatory Meta-Analyses in Diabetic Retinopathy