A5030963904- Cleft Lip and Palate Research
- Estrogen and related hormone effects
- Craniofacial Disorders and Treatments
- Genetic Associations and Epidemiology
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neonatal Respiratory Health Research
- Urinary Tract Infections Management
- Inhalation and Respiratory Drug Delivery
- Epigenetics and DNA Methylation
- Gene expression and cancer classification
- Ovarian function and disorders
- Antibiotic Resistance in Bacteria
- Genomics and Chromatin Dynamics
- Antibiotics Pharmacokinetics and Efficacy
- Pneumonia and Respiratory Infections
- Nosocomial Infections in ICU
University of Pittsburgh
2018-2024
Magee-Womens Research Institute
2018
Medical University of Vienna
2011-2013
BackgroundEstrogen receptor-positive (ER-positive) metastatic breast cancer is often intractable due to endocrine therapy resistance. Although ESR1 promoter switching events have been associated with endocrine-therapy resistance, recurrent fusion proteins yet be identified in advanced cancer.Patients and methodsTo identify genomic structural rearrangements (REs) including gene fusions acquired we undertook a multimodal sequencing effort three patient cohorts: (i) mate-pair and/or RNAseq 6...
Nonsyndromic orofacial clefts (OFCs) are common, heritable birth defects caused by both genetic and environmental risk factors. Despite the identification of many loci harboring OFC-risk variants, there unknown determinants OFC. Furthermore, while process embryonic facial development is well characterized, molecular mechanisms that underly it not. This represents a major hurdle in understanding how disruptions these biological processes result Thus, we sought to identify novel through...
ABSTRACT Time-kill curve experiments were performed with linezolid, doripenem, tigecycline, moxifloxacin, and daptomycin against Staphylococcus aureus colistin, doripenem Pseudomonas aeruginosa to evaluate the effect of porcine pulmonary surfactant on antimicrobial activity. Pulmonary significantly impaired activities moxifloxacin colistin. When antibiotics are being developed for respiratory tract infections, method described here might be used preliminarily quantify
Abstract Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) presenting as the most common phenotype. Previous genome-wide association and targeted sequencing analyses sNCS have identified multiple associated loci, strongest on chromosome 20. Herein, we report first whole-genome study using 63 proband-parent trios. Sequencing data for...
Abstract Study question Can a genome-wide association study (GWAS) and transcriptome-wide (TWAS) help identify genetic variation or genes associated with circulating anti-Müllerian hormone (AMH) levels in Samoan women? Summary answer We identified eleven suggestive loci (strongest signal ARID3A 19-946163-G-C [ p = 2.32 × 10⁻⁷]) seven significant ( GINS2, SENP3, USP7, TUSC3, MAFA, METTL4, NDFIP1 [all < 2.50 10⁻⁶]) AMH women. What is known already Three prior GWASs of eight premenopausal...
Maternal exposures are known to influence the risk of isolated cleft lip with or without palate (CL/P) - a common and highly heritable birth defect multifactorial etiology. To identify new CL/P loci, we conducted genome-wide gene-environment interaction (GEI) analysis on sample 540 cases 260 controls recruited from Philippines, incorporating effects genetic variants maternal smoking vitamin use. As GEI analyses typically low in power results can be difficult interpret, used multiple testing...