Rahil Sethi
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View article: O63: Leveraging global and local genomic data to guide equitable carrier screening: From Genome Aggregation Database (gnomAD) to Qatar Genome
O63: Leveraging global and local genomic data to guide equitable carrier screening: From Genome Aggregation Database (gnomAD) to Qatar Genome Open
View article: Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0
Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0 Open
View article: 471. In-Depth Characterization of SARS-CoV-2 Variants Causing Breakthrough COVID-19 Among Hospitalized Immunocompromised (IC) Patients with or without Prior Exposure to Tixagevimab-Cilgavimab (T/C) Pre-Exposure Prophylaxis (PrEP)
471. In-Depth Characterization of SARS-CoV-2 Variants Causing Breakthrough COVID-19 Among Hospitalized Immunocompromised (IC) Patients with or without Prior Exposure to Tixagevimab-Cilgavimab (T/C) Pre-Exposure Prophylaxis (PrEP) Open
Background PrEP with T/C can prevent COVID-19 hospitalization and death in IC patients (pts) up to 6 months after injection. However, in the USA, authorization of T/C PrEP was paused in Jan 2023 due to loss of in vitro activity of T/C agai…
View article: Mechanism and Effect of HNF4α Decrease in a Rat Model of Cirrhosis and Liver Failure
Mechanism and Effect of HNF4α Decrease in a Rat Model of Cirrhosis and Liver Failure Open
Liver decompensation by inflammatory STAT3 and NFκB signaling was not a direct consequence of progressive cirrhosis. Despite significant reduction of Hnf4a expression, residual levels of this abundant TF still stimulated strong new gene ex…
View article: Brief Report: HIV Drug Resistance Assessment Among Women Who Seroconverted During the MTN-025/HOPE Open-Label Extension Dapivirine Vaginal Ring Trial
Brief Report: HIV Drug Resistance Assessment Among Women Who Seroconverted During the MTN-025/HOPE Open-Label Extension Dapivirine Vaginal Ring Trial Open
Background: Clinical trials of dapivirine (DPV) vaginal ring have shown it is safe, effective, and desired by women as an HIV prevention option. The risk of drug resistance is a potential concern for DPV ring users who acquire HIV. We cond…
View article: Whole genome sequencing for metastatic mutational burden in extraskeletal myxoid chondrosarcoma
Whole genome sequencing for metastatic mutational burden in extraskeletal myxoid chondrosarcoma Open
Extraskeletal myxoid chondrosarcoma (EMC) is an ultra-rare cancer that makes up less than 3% of all soft tissue sarcomas. It most often arises in the soft tissues of the proximal limbs and has a higher incidence in males. Though EMC has a …
View article: Rapid Emergence of Potentially Transmissible Severe Acute Respiratory Syndrome Coronavirus 2 With Resistance to Combination Monoclonal Antibody Therapy
Rapid Emergence of Potentially Transmissible Severe Acute Respiratory Syndrome Coronavirus 2 With Resistance to Combination Monoclonal Antibody Therapy Open
Prolonged coronavirus disease 2019 may generate new viral variants. We report an immunocompromised patient treated with monoclonal antibodies who experienced rebound of viral RNA and emergence of an antibody-resistant (>1000-fold) varia…
View article: Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis Open
View article: Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis Open
Purpose: Our understanding of inborn errors of immunity is increasing however, their contribution to pediatric sepsis is unknown. Methods: We used whole exome sequencing to characterize variants in genes related to monogenic immunologic di…
View article: HIV‐1 drug resistance among individuals who seroconverted in the ASPIRE dapivirine ring trial
HIV‐1 drug resistance among individuals who seroconverted in the ASPIRE dapivirine ring trial Open
Introduction A potential concern with the use of dapivirine (DPV) for HIV prevention is the selection of a drug‐resistant virus that could spread and reduce the effectiveness of non‐nucleoside reverse transcriptase (NNRTI)‐based first‐line…
View article: Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis Open
Purpose: Our understanding of the inborn errors of immunity that cause immunodeficiencies is increasing however, their contribution to pediatric sepsis is unknown. Methods: We used whole exome sequencing to characterize variants previously…
View article: Intractable Coronavirus Disease 2019 (COVID-19) and Prolonged Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Replication in a Chimeric Antigen Receptor-Modified T-Cell Therapy Recipient: A Case Study
Intractable Coronavirus Disease 2019 (COVID-19) and Prolonged Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Replication in a Chimeric Antigen Receptor-Modified T-Cell Therapy Recipient: A Case Study Open
A chimeric antigen receptor-modified T-cell therapy recipient developed severe coronavirus disease 2019, intractable RNAemia, and viral replication lasting >2 months. Premortem endotracheal aspirate contained >2 × 1010 severe acute r…
View article: Gonadotrophin-mediated miRNA expression in testis at onset of puberty in rhesus monkey: predictions on regulation of thyroid hormone activity and DLK1-DIO3 locus
Gonadotrophin-mediated miRNA expression in testis at onset of puberty in rhesus monkey: predictions on regulation of thyroid hormone activity and DLK1-DIO3 locus Open
Molecular mechanisms responsible for the initiation of primate spermatogenesis remain poorly characterized. Previously, 48 h stimulation of the testes of three juvenile rhesus monkeys with pulsatile LH and FSH resulted in down-regulation o…
View article: The testicular transcriptome associated with spermatogonia differentiation initiated by gonadotrophin stimulation in the juvenile rhesus monkey (Macaca mulatta)
The testicular transcriptome associated with spermatogonia differentiation initiated by gonadotrophin stimulation in the juvenile rhesus monkey (Macaca mulatta) Open
The work described was funded by NIH grant R01 HD072189 to T.M.P. P.A. was supported by an Endocrine Society Summer Research Fellowship Award and CONICET (Argentine Research Council), S.N. by a grant from Vali-e-Asr Reproductive Health Res…
View article: The transcriptome of the <i>Didelphis virginiana</i> opossum kidney OK proximal tubule cell line
The transcriptome of the <i>Didelphis virginiana</i> opossum kidney OK proximal tubule cell line Open
The OK cell line derived from the kidney of a female opossum Didelphis virginiana has proven to be a useful model in which to investigate the unique regulation of ion transport and membrane trafficking mechanisms in the proximal tubule (PT…