Mamta Giri
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View article: Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients Open
Inflammatory bowel disease (IBD) is a group of chronic digestive tract inflammatory conditions whose genetic etiology is still poorly understood. The incidence of IBD is particularly high among Ashkenazi Jews. Here, we identify 8 novel and…
View article: NOX1 is essential for TNFα-induced intestinal epithelial ROS secretion and inhibits M cell signatures
NOX1 is essential for TNFα-induced intestinal epithelial ROS secretion and inhibits M cell signatures Open
Objective Loss-of-function mutations in genes generating reactive oxygen species (ROS), such as NOX1 , are associated with IBD. Mechanisms whereby loss of ROS drive IBD are incompletely defined. Design ROS measurements and single-cell tran…
View article: Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility Open
View article: Single‐cell transcriptomics reveals conserved cell identities and fibrogenic phenotypes in zebrafish and human liver
Single‐cell transcriptomics reveals conserved cell identities and fibrogenic phenotypes in zebrafish and human liver Open
The mechanisms underlying liver fibrosis are multifaceted and remain elusive with no approved antifibrotic treatments available. The adult zebrafish has been an underutilized tool to study liver fibrosis. We aimed to characterize the singl…
View article: A Role for CXCR3 Ligands as Biomarkers of Post-Operative Crohn’s Disease Recurrence
A Role for CXCR3 Ligands as Biomarkers of Post-Operative Crohn’s Disease Recurrence Open
Background and Aims Crohn’s disease [CD] recurrence following ileocolic resection [ICR] is common. We sought to identify blood-based biomarkers associated with CD recurrence. Methods CD patients undergoing ICR were recruited across six cen…
View article: Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression
Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression Open
View article: Single-cell transcriptomic profiling of healthy and fibrotic adult zebrafish liver reveals conserved cell identities and stellate cell activation phenotypes with human liver
Single-cell transcriptomic profiling of healthy and fibrotic adult zebrafish liver reveals conserved cell identities and stellate cell activation phenotypes with human liver Open
Liver fibrosis is the excessive accumulation of extracellular matrix that can progress to cirrhosis and failure if untreated (1). The mechanisms of fibrogenesis are multi-faceted and remain elusive with no approved antifibrotic treatments …
View article: Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility
Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility Open
Genome-wide association studies (GWAS) have identified hundreds of loci associated with Crohns disease (CD), however, as with all complex diseases, deriving pathogenic mechanisms from these non-coding GWAS discoveries has been challenging.…
View article: Serum Analyte Profiles Associated With Crohn’s Disease and Disease Location
Serum Analyte Profiles Associated With Crohn’s Disease and Disease Location Open
Background Crohn’s disease (CD) can affect any segment of the digestive tract but is most often localized in the ileal, ileocolonic, and colorectal regions of the intestines. It is believed that the chronic inflammation in CD is a result o…
View article: 374 INFLAMED ULCERATIVE COLITIS REGIONS ASSOCIATED TO MRGPRX2-MEDIATED MAST CELL DEGRANULATION AND CELL ACTIVATION MODULES, DEFINING A NEW THERAPEUTIC TARGET
374 INFLAMED ULCERATIVE COLITIS REGIONS ASSOCIATED TO MRGPRX2-MEDIATED MAST CELL DEGRANULATION AND CELL ACTIVATION MODULES, DEFINING A NEW THERAPEUTIC TARGET Open
View article: Stratification of Risk of Progression to Colectomy in Ulcerative Colitis using Measured and Predicted Gene Expression
Stratification of Risk of Progression to Colectomy in Ulcerative Colitis using Measured and Predicted Gene Expression Open
SUMMARY An important goal of clinical genomics is to be able to estimate the risk of adverse disease outcomes. Between 5% and 10% of ulcerative colitis (UC) patients require colectomy within five years of diagnosis, but polygenic risk scor…
View article: A myeloid–stromal niche and gp130 rescue in NOD2-driven Crohn’s disease
A myeloid–stromal niche and gp130 rescue in NOD2-driven Crohn’s disease Open
View article: Biomarker-focused multi-drug combination therapy and repurposing trial in mdx mice
Biomarker-focused multi-drug combination therapy and repurposing trial in mdx mice Open
Duchenne muscular dystrophy is initiated by dystrophin deficiency, but downstream pathophysiological pathways such as membrane instability, NFĸB activation, mitochondrial dysfunction, and induction of TGFβ fibrosis pathways are thought to …
View article: Inflamed Ulcerative Colitis Regions Associated With MRGPRX2-Mediated Mast Cell Degranulation and Cell Activation Modules, Defining a New Therapeutic Target
Inflamed Ulcerative Colitis Regions Associated With MRGPRX2-Mediated Mast Cell Degranulation and Cell Activation Modules, Defining a New Therapeutic Target Open
View article: Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort
Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort Open
View article: Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency Open
View article: Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients
Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients Open
Inflammatory bowel disease (IBD) is a group of chronic diseases, affecting different parts of the gastrointestinal tract, that mainly comprises Crohn’s Disease (CD) and Ulcerative Colitis (UC). Most IBD genomic research to date has involve…
View article: Single-Cell Analysis of Crohn’s Disease Lesions Identifies a Pathogenic Cellular Module Associated with Resistance to Anti-TNF Therapy
Single-Cell Analysis of Crohn’s Disease Lesions Identifies a Pathogenic Cellular Module Associated with Resistance to Anti-TNF Therapy Open
View article: Zebrafish modeling of intestinal injury, bacterial exposures and medications defines epithelial <i>in vivo</i> responses relevant to human inflammatory bowel disease
Zebrafish modeling of intestinal injury, bacterial exposures and medications defines epithelial <i>in vivo</i> responses relevant to human inflammatory bowel disease Open
Genome-wide association studies have identified over 200 genomic loci associated with inflammatory bowel disease (IBD). High-effect risk alleles define key roles for genes involved in bacterial response and innate defense. More high-throug…
View article: Prioritizing Crohn’s disease genes by integrating association signals with gene expression implicates monocyte subsets
Prioritizing Crohn’s disease genes by integrating association signals with gene expression implicates monocyte subsets Open
View article: Single-cell analysis of Crohn’s disease lesions identifies a pathogenic cellular module associated with resistance to anti-TNF therapy
Single-cell analysis of Crohn’s disease lesions identifies a pathogenic cellular module associated with resistance to anti-TNF therapy Open
Summary Clinical benefits to cytokine blockade in ileal Crohn’s disease (iCD) have been limited to a subset of patients. Whether cellular and molecular heterogeneity contributes to variability in treatment responses has been unclear. Using…
View article: A Review-Drug-Food Interactions
A Review-Drug-Food Interactions Open
Although it is well known and identified that drug-drug interactions exist, the recognition of importance of food and drug interactions to practice has been growing much slower. On the other hand, drug-food/nutrient interactions continue t…
View article: Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy Open
View article: Pyruvate Dehydrogenase Phosphatase Regulatory Gene Expression Correlates with Exercise Training Insulin Sensitivity Changes
Pyruvate Dehydrogenase Phosphatase Regulatory Gene Expression Correlates with Exercise Training Insulin Sensitivity Changes Open
Exercise-induced adaptations in skeletal muscle Si are related to baseline levels of Ca-regulating transcripts, which may prime the muscle for adaptation. Relationships between %ΔSi and pyruvate dehydrogenase phosphatase regulatory, a regu…
View article: HG-61MOLECULAR CHARACTERIZATION OF<i>IN VIVO</i>AND<i>IN VITRO</i>MODELS OF DIPG
HG-61MOLECULAR CHARACTERIZATION OF<i>IN VIVO</i>AND<i>IN VITRO</i>MODELS OF DIPG Open