A5081524850- Neurofibromatosis and Schwannoma Cases
- Cancer Mechanisms and Therapy
- Sarcoma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Cellular transport and secretion
- Meningioma and schwannoma management
- Hearing, Cochlea, Tinnitus, Genetics
- Genomics and Rare Diseases
- Ear and Head Tumors
- Axon Guidance and Neuronal Signaling
- Sinusitis and nasal conditions
- Ear Surgery and Otitis Media
- Retinal Development and Disorders
- Congenital heart defects research
- Quinazolinone synthesis and applications
- melanin and skin pigmentation
- Heavy Metal Exposure and Toxicity
- Congenital Ear and Nasal Anomalies
- Lysosomal Storage Disorders Research
- Autophagy in Disease and Therapy
- Virology and Viral Diseases
- Ion channel regulation and function
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Toxin Mechanisms and Immunotoxins
University of Miami
2017-2025
Dr. John T. Macdonald Foundation
2019-2025
University of Miami Health System
2023
Sylvester Comprehensive Cancer Center
2023
Jiangsu Provincial Center for Disease Control and Prevention
2021
Xiangya Hospital Central South University
2018-2019
Central South University
2018-2019
Yangzhou University
2016
Neurofibromatosis type 2 (NF2) is a nervous system tumor disorder caused by inactivation of the merlin suppressor encoded NF2 gene. Bilateral vestibular schwannomas are diagnostic hallmark NF2. Mainstream treatment options for NF2-associated tumors have been limited to surgery and radiotherapy; however, off-label uses targeted molecular therapies becoming increasingly common. Here, we investigated drugs targeting two kinases activated in schwannomas, c-Met Src. We demonstrated that...
NF2-related Schwannomatosis (previously referred to as Neurofibromatosis Type 2, or NF2) is a genetic-associated disease resulting from mutations in the gene, NF2. NF2 encodes Merlin protein, which acts tumor suppressor. Bilateral vestibular schwannoma (VS) hallmark of Although exactly molecular mechanism mediating NF2-driven schwannomatosis not fully understood, it known that defective protein functionality leads abnormal cell proliferation. Herein, we utilized human induced pluripotent...
Background . Waardenburg syndrome (WS) is one of the most common forms syndromic deafness with heterogeneity loci and alleles variable expressivity clinical features. Methods The technology single-nucleotide variants (SNV) copy number variation (CNV) detection was developed to investigate genotype spectrum WS in a Chinese population. Results Ninety patients 24 additional family members were recruited for study. Fourteen mutations had not been previously reported, including c.808C>G,...
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Abstract Chronic suppurative otitis media (CSOM) is one of the most common infectious diseases middle ear especially affecting children, leading to delay in language development and communication. Although Staphylococcus aureus pathogen associated with CSOM, its interaction epithelial cells not well known. In present study, we observed that otopathogenic S. has ability invade human (HMEECs) a dose time dependent manner. Scanning electron microscopy demonstrated increase number on surface...
Objectives/Hypothesis The role of social determinants health in chronic rhinosinusitis (CRS) is poorly characterized. Limited research examining CRS disparities indicates that minority status associated with worse CRS. However, many these studies are retrospective or performed populations without substantial ethnic minorities. Rhinologists need to characterize existing disease develop targeted strategies for improving care populations. This prospective study assesses preoperative burden...
Hair cells (HCs) play crucial roles in perceiving sound, acceleration, and fluid motion. The tonotopic architecture of the sensory epithelium recognizes mechanical stimuli convert them into electrical signals. expression regulation genes inner ear is very important to keep organ functional. Our study first investigate role epigenetic reader Brd4 mouse ear. We demonstrate that HC specific deletion vivo sufficient cause profound hearing loss (HL), degeneration stereocilia, nerve fibers,...
Benign paroxysmal positional vertigo (BPPV) is the most common cause of in humans, yet molecular etiology currently unknown. Evidence suggests that genetic factors may play an important role some cases idiopathic BPPV, particularly familial cases, but responsible variants have not been identified. In this study, we performed whole exome sequencing [including untranslated regions (UTRs)] 12 families and Sanger additional 30 with recurrent BPPV Caucasians from United States (US) Midwest...
The UMi031-A-2 hiPSC line contains a CRISPR-induced homozygous, Neurofibromatosis Type 2 (NF2) mutation (L64P (CTG > CCG)) in the NF2 gene that encodes merlin tumor suppressor. This was generated from an unaffected iPSC using CRISPR technology and characterized for pluripotency karyotypic stability. c.191 T C variant is associated with syndromic nervous system disorder leading to development of bilateral vestibular schwannomas. Once differentiated into Schwann cells, can serve as resource...
Abstract Neurofibromatosis Type 2 (NF2) is a tumor predisposition syndrome caused by germline inactivating mutations in the NF2 gene encoding merlin suppressor. Patients develop multiple benign types nervous system including bilateral vestibular schwannomas (VS). Standard treatments include surgery and radiation therapy, which may lead to loss of hearing, impaired facial nerve function, other complications. Kinase inhibitor monotherapies have been evaluated clinically for patients with...
<p>Western Blot Raw Images and Quantification</p>
<p>Supplemental Table 3. Efficacy of Drug Combinations in Additional Cell Lines.</p>
<p>Supplemental Table 2. Selectivity Score of Top Three Drug Combinations for Merlin-deficient Over Isogenic Normal Human Schwann Cells.</p>
<p>Supplemental Figure 2. Neither omipalisib nor dasatinib produce significant apoptosis.</p>
<p>Supplemental Figure 1. HS01 western blots for dasatinib target and necroptosis markers.</p>
<p>Supplemental Table 1. PI3K/mTOR and FAK/Src Inhibitors Assessed in Combination.</p>
<p>Table and Figure Legends for Supplementary Data</p>