A5103273591- PI3K/AKT/mTOR signaling in cancer
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Renal cell carcinoma treatment
- MicroRNA in disease regulation
- Circular RNAs in diseases
- Renal and related cancers
- Genomics and Chromatin Dynamics
- RNA regulation and disease
- Digital Rights Management and Security
- Genetics and Neurodevelopmental Disorders
- Tuberous Sclerosis Complex Research
- Epigenetics and DNA Methylation
- Drug Transport and Resistance Mechanisms
- Textile materials and evaluations
- Genetic Syndromes and Imprinting
- RNA Interference and Gene Delivery
- RNA Research and Splicing
- Glioma Diagnosis and Treatment
- Prenatal Screening and Diagnostics
- Testicular diseases and treatments
- Acute Myeloid Leukemia Research
- Multiple Myeloma Research and Treatments
- Cancer-related Molecular Pathways
- Pluripotent Stem Cells Research
Children's Hospital of Los Angeles
2024
Cancer Genetics (United States)
2021-2023
Brigham and Women's Hospital
2021-2023
Harvard University
2021-2023
National and Kapodistrian University of Athens
2010-2017
Yale University
2017
Children's Hospital Agia Sophia
2011-2015
Background Upper tract urothelial carcinomas (UT-UC) can invade the pelvicalyceal system making differential diagnosis of various histologically distinct renal cell carcinoma (RCC) subtypes and UT-UC, difficult. Correct is critical for determining appropriate surgery post-surgical treatments. We aimed to identify microRNA (miRNA) signatures that accurately distinguish most prevalent RCC UT-UC form normal kidney. Methods Findings miRNA profiling was performed on FFPE tissue sections from...
Recessive mutations in WD repeat domain 62 (WDR62) cause microcephaly and a wide spectrum of severe brain malformations. Disruption the mouse ortholog results underlain by reduced proliferation neocortical progenitors during late neurogenesis, abnormalities asymmetric centrosome inheritance leading to neuronal migration delays, altered differentiation. Spindle pole localization WDR62 mitotic progression are defective patient-derived fibroblasts, which, similar progenitors, transiently arrest...
Although, substantial experimental evidence related to diagnosis and treatment of pediatric central nervous system (CNS) neoplasms have been demonstrated, the understanding etiology pathogenesis disease remains scarce. Recent microRNA (miRNA)-based research reveals involvement miRNAs in various aspects CNS development proposes that they might compose key molecules underlying oncogenesis. The current study evaluated miRNA differential expression detected between embryonal brain tumors normal...
The 15q11-q13 PWS/AS critical region involves genes that are characterized by genomic imprinting. Multiple repeat elements within the mediate rearrangements, including interstitial duplications, triplications, and supernumerary isodicentric marker chromosomes, as well deletions cause Prader-Willi syndrome (PWS) Angelman (AS). Recently, duplications of maternal origin concerning same have been implicated in autism spectrum disorders (ASD). We present a 6-month-old girl carrying de novo...
In the current setting, we attempted to verify and validate miRNA candidates relevant pediatric primary brain tumor progression outcome, in order provide data regarding identification of novel prognostic biomarkers. Overall, 26 resected tumors were studied from children diagnosed with pilocytic astrocytomas (PAs) (n = 19) ependymomas (EPs) 7). As controls, deceased who underwent autopsy not present any malignancy used. The experimental approach included microarrays covering 1211 miRNAs....
Abstract The lack of animal models for some human diseases precludes our understanding disease mechanisms and ability to test prospective therapies in vivo. Generation kidney organoids from Tuberous Sclerosis Complex (TSC) patient-derived-hiPSCs allows us recapitulate a rare tumor called angiomyolipoma (AML). Organoids derived TSC2 −/− hiPSCs but not isogenic +/− or +/+ share common transcriptional signature myomelanocytic cell phenotype with AMLs, develop epithelial cysts, replicating two...
There are three distinct subtypes of Trichorhinophalangeal syndrome (TRPS); TRPS type I, II and III. Features common to all include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip the nose (pear-shaped), protruding ears. Langer-Giedion (LGS) or is contiguous gene on 8q24.1, involving loss functional copies TRPS1 EXT1 genes. We report male patient that was referred Department Medical Genetics due hypotonia dysmorphic facial features.Cytogenetic array- Comparative...
Recurrent chromosomal alterations have been repeatedly reported in cultured human embryonic stem cells (hESCs). The effects of these on the capability pluripotent to differentiate and growth potential their specific differentiated derivatives remain unclear. Here, we report that hESC lines HUES-7 -9 carrying multiple produce vitro mesenchymal (MSCs) show progressive arrest enter senescence after 15 16 passages, respectively. There was no difference proliferative when compared with bone...
Abstract BACKGROUND Pelizaeus‐Merzbacher disease (PMD) is a recessive, X‐linked leukoencephalopathy attributed to impaired myelination during central nervous system development, caused by defects in the proteolipid protein 1 ( PLP1 ) gene. PMD presents clinical variability, ranging from severe connatal form classic form. CASES We report and molecular findings of two affected males, three carrier females, an aborted male fetus with familial PMD. The probands presented phenotype intellectual...
<p>Table S5. Nonsynonymous single nucleotide variants (SNVs) and insertions/deletions (indels) identified by whole exome sequencing (WES) and/or initial panel sequencing. Each sheet is a different tumor sample.</p>
You have accessJournal of UrologyPenile & Testicular Cancer I (MP01)1 May 2024MP01-16 MOLECULAR DRIVERS OF ORGANOTROPISM AND CISPLATIN RESISTANCE IN GERM CELL TUMORS Margaret F. Meagher, Yun Cheng Sawa, Liwei Jia, Frederick Millard, Harris Krause, Alex Farrell, Andrew Elliott, John Lafin, Christina Jamieson, Emmanuel Antonarakis, Anishka D'Souza, Krinio Giannikou, James Amatruda, Siamak Daneshmand, Rana McKay, Matthew Oberly, Chadi Nabhan, and Aditya Bagrodia MeagherMargaret Meagher ,...
We sought to evaluate the genomic and transcriptomic landscapes in primary metastatic germ cell tumors (GCTs; N = 138) uncover factors that drive cisplatin resistance. Prevalence was calculated for platinum-resistant alterations (PRAs; KRAS, TP53, KIT mutations, MDM2 amplification) high copy number amplifications (CNA ≥ 6 copies). Tumors were designated as chemo-naïve (PreC, 66) or post-chemotherapy (PostC, 17). A signature associated with platinum sensitivity (PSS, suggests increased...
<p>Table S2. Demographic and clinical characteristics of 30 cancer patients with mTOR pathway mutations. S2.1. Master table showing a summary demographic outcomes. S2.2. Prior systemic treatment regimens. S2.3. Objective response to everolimus according RECIST v1.1 criteria. S2.4. Toxicity profile CTCAE v4.0.</p>
<p>Supplementary Methods File</p>
<p>Table S4. Inactivating mutations in TSC1/TSC2 and activating mutation MTOR identified 30 patients the clinical trial - clonality biallelic inactivation status.</p>
<p>Table S3. Toxicities (any level) occurring in at least two patients, grouped by CTCAE v4.0 categories. For patients with more than one adverse event per category, only the highest-grade was counted.</p>