A5045061781- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Hearing, Cochlea, Tinnitus, Genetics
- Toxoplasma gondii Research Studies
- Parasitic Infections and Diagnostics
- Neonatal Respiratory Health Research
- RNA regulation and disease
- Congenital Diaphragmatic Hernia Studies
- Trace Elements in Health
- Herpesvirus Infections and Treatments
- RNA and protein synthesis mechanisms
- Inflammatory Myopathies and Dermatomyositis
- Ginger and Zingiberaceae research
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Pancreatic function and diabetes
- Hearing Loss and Rehabilitation
- Cytomegalovirus and herpesvirus research
- Ear Surgery and Otitis Media
- Peroxisome Proliferator-Activated Receptors
- Genomics and Rare Diseases
Children's Hospital of Philadelphia
2021-2025
University of Pennsylvania
2016-2019
Abstract Toxoplasma gondii is among the most prevalent parasites worldwide, infecting many wild and domestic animals causing zoonotic infections in humans. T. differs substantially its broad distribution from closely related that typically have narrow, specialized host ranges. To elucidate genetic basis for these differences, we compared genomes of 62 globally distributed isolates to several coccidian parasites. Our findings reveal tandem amplification diversification secretory pathogenesis...
Alveolar epithelial type 2 (AT2) cells harbor the facultative progenitor capacity in lung alveolus to drive regeneration after injury. Using single-cell transcriptomics, software-guided segmentation of tissue damage, and vivo mouse lineage tracing, we identified grainyhead transcription factor cellular promoter 2-like 1 (Tfcp2l1) as a regulator this regenerative process. Tfcp2l1 loss adult AT2 inhibits self-renewal enhances AT2-AT1 differentiation during regeneration. Conversely, blunts...
Improved detection sensitivity from combined Long-Range PCR (LR-PCR), Next-Generation Sequencing (NGS), and droplet digital (ddPCR) to identify multiple large-scale mtDNA deletions (MLSMD) quantify deletion heteroplasmy have introduced clinical interpretation challenges. We sought evaluate clinical, biochemical, histopathological phenotypes of a large cohort harboring MLSMD in muscle better understand their significance across range phenotypes. A single-site retrospective study was performed...
Synonymous variants have been shown to alter the correct splicing of pre-mRNAs and generate disease-causing transcripts. These are not an uncommon etiology genetic disease; however, they frequently overlooked during testing in absence functional clinical data. Here, we describe occurrence a synonymous variant [NM_005422.4 (TECTA):c.327C>T, p.(Gly109=)] seven individuals with hearing loss from six unrelated families. The is located near exonic/intronic boundaries but predicted impact by...
Abstract MPZL2 ‐related hearing loss is a rare form of autosomal recessive characterized by progressive, mild sloping to severe sensorineural loss. Thirty‐five previously reported patients had biallelic truncating variants in , with the exception one patient missense variant uncertain significance and variant. Here, we describe clinical characteristics genotypes five from four families confirmed A likely pathogenic [NM_005797.4( ):c.280C>T,p.(Arg94Trp)] located exon 3 was be trans...
ABSTRACT Alveolar epithelial type 2 (AT2) cells harbor the facultative progenitor capacity in lung alveolus to drive regeneration after injury. Using single cell transcriptomics, software-guided segmentation of tissue damage, and vivo lineage tracing, we have identified grainyhead transcription factor Tfcp2l1 as a key regulator this regenerative process. expression is initiated late development restricted AT2 population postnatal lung. Loss adult decreased self-renewal enhanced AT2-AT1...