Anil G. Jegga
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View article: Contribution of leukocyte telomere length to cardiovascular disease onset from genome-wide cross-trait analysis
Contribution of leukocyte telomere length to cardiovascular disease onset from genome-wide cross-trait analysis Open
Telomere shortening is a well-established marker of cellular aging and genomic instability. While the relationship between leukocyte telomere length and cardiovascular diseases has long been of interest, their genetic interplay remains inc…
View article: Vascular Organoids Derived from Capillary malformation-induced Pluripotent Stem Cells Exhibit Disease-Relevant Phenotypes
Vascular Organoids Derived from Capillary malformation-induced Pluripotent Stem Cells Exhibit Disease-Relevant Phenotypes Open
Capillary malformation (CM) is a congenital vascular anomaly that affects the skin, mucosa, eye, and brain. A major obstacle to mechanistic and drug screening studies for CM has been the lack of preclinical models. In this study, we establ…
View article: Single-vessel transcriptome map pathological landscapes and reveal NR2F2-mediated smooth muscle cell phenotype acquisition in capillary malformations
Single-vessel transcriptome map pathological landscapes and reveal NR2F2-mediated smooth muscle cell phenotype acquisition in capillary malformations Open
Summary Background Capillary malformation (CM) is a congenital vascular anomaly affecting the skin, mucosa, and brain, yet the understanding of its vascular pathogenesis remains limited. Methods We applied spatial whole-transcriptome profi…
View article: From Gene Networks to Therapeutics: A Causal Inference and Deep Learning Approach for Drug Discovery
From Gene Networks to Therapeutics: A Causal Inference and Deep Learning Approach for Drug Discovery Open
Background/Objectives: Drug discovery is a lengthy and expensive process, taking an average of 10 years and more than USD 2 billion from target discovery to drug approval. It is even more challenging in complex diseases due to disease hete…
View article: From Gene Networks to Therapeutics: A Causal Inference and Deep Learning Approach for Drug Discovery
From Gene Networks to Therapeutics: A Causal Inference and Deep Learning Approach for Drug Discovery Open
Background/Objectives: Drug discovery is a lengthy and expensive process, taking an average of 10 years and more than $2 billion from target discovery to drug approval. It is even more challenging in complex diseases due to the disease het…
View article: Wilms tumor 1 impairs apoptotic clearance of fibroblasts in distal fibrotic lung lesions
Wilms tumor 1 impairs apoptotic clearance of fibroblasts in distal fibrotic lung lesions Open
Idiopathic pulmonary fibrosis (IPF) is a fatal fibrotic lung disease characterized by impaired fibroblast clearance and excessive extracellular matrix (ECM) protein production. Wilms tumor 1 (WT1), a transcription factor, is selectively up…
View article: Differential Expression and Microsystem Physiology Reveal Predominant and Drug Reversible CFTR-Related Defects in Idiopathic Pancreatitis
Differential Expression and Microsystem Physiology Reveal Predominant and Drug Reversible CFTR-Related Defects in Idiopathic Pancreatitis Open
Pancreatitis is a potentially fatal and difficult to control exocrine-tissue defect with no FDA approved therapies. Variants of a chloride/bicarbonate transporter cystic fibrosis transmembrane conductance regulator (CFTR) pose multi-fold i…
View article: Wilms’ tumor 1 impairs apoptotic clearance of fibroblasts in distal fibrotic lung lesions
Wilms’ tumor 1 impairs apoptotic clearance of fibroblasts in distal fibrotic lung lesions Open
Idiopathic pulmonary fibrosis (IPF) is a fatal fibrotic lung disease characterized by impaired fibroblast clearance and excessive extracellular matrix (ECM) protein production. Wilms’ Tumor 1 (WT1), a transcription factor, is selectively u…
View article: Brain Transcriptome Changes Associated With an Acute Increase of Protein O‐ <scp>GlcNAcylation</scp> and Implications for Neurodegenerative Disease
Brain Transcriptome Changes Associated With an Acute Increase of Protein O‐ <span>GlcNAcylation</span> and Implications for Neurodegenerative Disease Open
Enhancing protein O‐GlcNAcylation by pharmacological inhibition of the enzyme O‐GlcNAcase (OGA) has been considered as a strategy to decrease tau and amyloid‐beta phosphorylation, aggregation, and pathology in Alzheimer's disease (AD). The…
View article: Neuroinflammation underlies the development of social stress induced cognitive deficit in male sickle cell mice
Neuroinflammation underlies the development of social stress induced cognitive deficit in male sickle cell mice Open
Cognitive deficit is a debilitating complication of sickle cell disease (SCD), with a multifactorial etiopathogenesis. Here we show that neuroinflammation and dysregulation in lipidomics and transcriptomics profiles are major underlying me…
View article: Contribution of leukocyte telomere length to major cardiovascular diseases onset: phenotypic and genetic insights from a large-scale genome-wide cross-trait analysis
Contribution of leukocyte telomere length to major cardiovascular diseases onset: phenotypic and genetic insights from a large-scale genome-wide cross-trait analysis Open
Telomere shortening, a marker of cellular aging and genomic instability, has been epidemiologically linked to an increased risk of various cardiovascular diseases (CVDs). However, shared genetic determinants involved in these associations …
View article: Acute increase of protein O-GlcNAcylation in mice leads to transcriptome changes in the brain opposite to what is observed in Alzheimer’s Disease
Acute increase of protein O-GlcNAcylation in mice leads to transcriptome changes in the brain opposite to what is observed in Alzheimer’s Disease Open
Enhancing protein O-GlcNAcylation by pharmacological inhibition of the enzyme O-GlcNAcase (OGA) is explored as a strategy to decrease tau and amyloid-beta phosphorylation, aggregation, and pathology in Alzheimer’s disease (AD). There is st…
View article: The protein disulfide isomerase A3 and osteopontin axis promotes influenza‐induced lung remodelling
The protein disulfide isomerase A3 and osteopontin axis promotes influenza‐induced lung remodelling Open
Background and Purpose Fibrotic lung remodelling after a respiratory viral infection represents a debilitating clinical sequela. Studying or managing viral–fibrotic sequela remains challenging, due to limited therapeutic options and lack o…
View article: Contribution of leukocyte telomere length to major cardiovascular diseases onset: insights from a large-scale genome-wide cross-trait analysis
Contribution of leukocyte telomere length to major cardiovascular diseases onset: insights from a large-scale genome-wide cross-trait analysis Open
Telomere shortening, a marker of cellular aging and genomic instability, has been epidemiologically linked to an increased risk of various cardiovascular diseases (CVDs). However, shared genetic determinants involved in these associations …
View article: Specific binding sites on Rhesus rotavirus capsid protein dictate the method of endocytosis inducing the murine model of biliary atresia
Specific binding sites on Rhesus rotavirus capsid protein dictate the method of endocytosis inducing the murine model of biliary atresia Open
In this study, we have determined that the presence of the “SRL” peptide on RRV alters its method of endocytosis and intracellular trafficking through viral binding to heat shock cognate 70 protein. This initiates an inflammatory pathway t…
View article: Contribution of leukocyte telomere length to major cardiovascular diseases onset: phenotypic and genetic insights from a large-scale genome-wide cross-trait analysis
Contribution of leukocyte telomere length to major cardiovascular diseases onset: phenotypic and genetic insights from a large-scale genome-wide cross-trait analysis Open
Telomere shortening, a marker of cellular aging and genomic instability, has been epidemiologically linked to an increased risk of various cardiovascular diseases (CVDs). However, shared genetic determinants involved in these associations …
View article: Elucidating a genomic signature associated with behavioral and executive function after moderate to severe pediatric TBI: a systems biology informed approach
Elucidating a genomic signature associated with behavioral and executive function after moderate to severe pediatric TBI: a systems biology informed approach Open
Introduction: There is significant unexplained variability in behavioral and executive functioning after pediatric traumatic brain injury (TBI). Prior research indicates that there are likely genetic contributions; however, current researc…
View article: SEMA3B inhibits TGFβ-induced extracellular matrix protein production and its reduced levels are associated with a decline in lung function in IPF
SEMA3B inhibits TGFβ-induced extracellular matrix protein production and its reduced levels are associated with a decline in lung function in IPF Open
The excessive production and secretion of collagens and other extracellular matrix proteins by fibroblasts lead to the scarring of the lung in severe fibrotic lung diseases. This study unveils an antifibrotic role for semaphorin class 3B (…
View article: Roles of cMyBP-C phosphorylation on cardiac contractile dysfunction in db/db mice
Roles of cMyBP-C phosphorylation on cardiac contractile dysfunction in db/db mice Open
Type 2 diabetes mellitus (T2DM) is a metabolic disease and comorbidity associated with several conditions, including cardiac dysfunction leading to heart failure with preserved ejection fraction (HFpEF), in turn resulting in T2DM-induced c…
View article: Neuroinflammation underlies the development of social stress induced cognitive deficit in sickle cell disease
Neuroinflammation underlies the development of social stress induced cognitive deficit in sickle cell disease Open
Cognitive deficit is a debilitating complication of SCD with multifactorial pathobiology. Here we show that neuroinflammation and dysregulation in lipidomics and transcriptomics profiles are major underlying mechanisms of social stress-ind…
View article: Endothelial cells differentiated from patient dermal fibroblast-derived induced pluripotent stem cells resemble vascular malformations of port-wine birthmark
Endothelial cells differentiated from patient dermal fibroblast-derived induced pluripotent stem cells resemble vascular malformations of port-wine birthmark Open
Lesional induced pluripotent stem cell-derived endothelial cells can resemble pathological vascular phenotypes of port-wine birthmark (PWB). Our data demonstrate that multiple pathways, including Hippo and Wnt, NFκB, TNF, MAPK and choleste…
View article: Perturbations of Glutathione and Sphingosine Metabolites in Port Wine Birthmark Patient-Derived Induced Pluripotent Stem Cells
Perturbations of Glutathione and Sphingosine Metabolites in Port Wine Birthmark Patient-Derived Induced Pluripotent Stem Cells Open
Port Wine Birthmarks (PWBs) are a congenital vascular malformation on the skin, occurring in 1–3 per 1000 live births. We have recently generated PWB-derived induced pluripotent stem cells (iPSCs) as clinically relevant disease models. The…
View article: Perturbations of glutathione and sphingosine metabolites in Port Wine Birthmark patient-derived induced pluripotent stem cells
Perturbations of glutathione and sphingosine metabolites in Port Wine Birthmark patient-derived induced pluripotent stem cells Open
Port Wine Birthmark (PWB) is a congenital vascular malformation in the skin, occurring in 1-3 per 1,000 live births. We recently generated PWB-derived induced pluripotent stem cells (iPSCs) as clinically relevant disease models. The metabo…
View article: Supporting materials: Endothelial cells differentiated from patient dermal fibroblast-derived induced pluripotent stem cells resemble vascular malformations of Port Wine Birthmark
Supporting materials: Endothelial cells differentiated from patient dermal fibroblast-derived induced pluripotent stem cells resemble vascular malformations of Port Wine Birthmark Open
Background Port wine birthmark (PWB) is a congenital vascular malformation resulting from developmentally defective endothelial cells (ECs). Developing clinically relevant disease models for PWB studies is currently an unmet need. Objectiv…
View article: Mucosal transcriptomics highlight lncRNAs implicated in ulcerative colitis, Crohn’s disease, and celiac disease
Mucosal transcriptomics highlight lncRNAs implicated in ulcerative colitis, Crohn’s disease, and celiac disease Open
Ulcerative colitis (UC), Crohn's disease (CD), and celiac disease are prevalent intestinal inflammatory disorders with nonsatisfactory therapeutic interventions. Analyzing patient data-driven cohorts can highlight disease pathways and new …
View article: Relationships between gene expression and behavior in mice in response to systemic modulation of the <scp>O‐GlcNAcylation</scp> pathway
Relationships between gene expression and behavior in mice in response to systemic modulation of the <span>O‐GlcNAcylation</span> pathway Open
Enhancing protein O‐GlcNAcylation by pharmacological inhibition of the enzyme O‐GlcNAcase (OGA), which removes the O‐GlcNAc modification from proteins, has been explored in mouse models of amyloid‐beta and tau pathology. However, the O‐Glc…
View article: A comparison of anatomic and cellular transcriptome structures across 40 human brain diseases
A comparison of anatomic and cellular transcriptome structures across 40 human brain diseases Open
Genes associated with risk for brain disease exhibit characteristic expression patterns that reflect both anatomical and cell type relationships. Brain-wide transcriptomic patterns of disease risk genes provide a molecular-based signature,…
View article: Supplementary Tables S1 & S2 from Large-Scale Molecular Comparison of Human Schwann Cells to Malignant Peripheral Nerve Sheath Tumor Cell Lines and Tissues
Supplementary Tables S1 & S2 from Large-Scale Molecular Comparison of Human Schwann Cells to Malignant Peripheral Nerve Sheath Tumor Cell Lines and Tissues Open
Supplementary Tables S1 & S2 from Large-Scale Molecular Comparison of Human Schwann Cells to Malignant Peripheral Nerve Sheath Tumor Cell Lines and Tissues