A5018615078- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Chronic Lymphocytic Leukemia Research
- Lymphoma Diagnosis and Treatment
- Acute Myeloid Leukemia Research
- Biochemical and Molecular Research
- Viral-associated cancers and disorders
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Immunodeficiency and Autoimmune Disorders
- Carbohydrate Chemistry and Synthesis
- Neurogenetic and Muscular Disorders Research
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Chronic Myeloid Leukemia Treatments
- Genetic factors in colorectal cancer
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Hematopoietic Stem Cell Transplantation
- Cancer-related Molecular Pathways
- Acute Lymphoblastic Leukemia research
- Cardiovascular Effects of Exercise
- Child Nutrition and Feeding Issues
- Chromosomal and Genetic Variations
Duke Medical Center
2014-2025
Duke University Health System
2013-2025
Duke University
2014-2024
Duke University Hospital
2011-2023
Museum of Heilongjiang Province
2021
HistoGenetics (United States)
2014
Brigham and Women's Hospital
2014
University of North Carolina at Chapel Hill
2014
Illumina (United States)
2014
Danaher (United Kingdom)
2014
Direct experimental evidence implicates telomere erosion as a primary cause of cellular senescence. Using well characterized model system for breast cancer, we define here the molecular and consequences adriamycin treatment in tumor cells. Cells acutely exposed to exhibited an increase p53 activity, decline telomerase dramatic β-galactosidase, marker Inactivation wild-type resulted transition response from replicative senescence delayed apoptosis, demonstrating that plays integral role fate...
Abstract Enzyme replacement therapy (ERT) for Pompe disease using recombinant acid alpha‐glucosidase (rhGAA) has resulted in increased survival although the clinical response is variable. Cross‐reactive immunological material (CRIM)‐negative status been recognized as a poor prognostic factor. CRIM‐negative patients make no GAA protein and develop sustained high antibody titers to ERT that render treatment ineffective. Antibody are generally low majority of CRIM‐positive there typically...
Objective Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death. This study was designed to demonstrate that tolerance induction (ITI) prevents or diminishes development antibody titers, better outcome compared CN IPD treated with ERT monotherapy. Methods We evaluated safety, feasibility algorithm...
Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase (TNSALP). Variants uncertain significance (VUS) cause diagnostic delay uncertainty amongst patients health care providers. The ALPL gene variant database (https://alplmutationdatabase.jku.at/) open-access archive for interpretation clinical reported ALPL. contains coding...
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is one of the leading causes sudden cardiac death in children, young adults, and athletes characterized by fibro-fatty replacement myocardium, predominantly right ventricle. Sixty percent patients with ACM have a known genetic cause, but for remainder, etiology unknown. This lack mechanistic understanding has also slowed development disease-modifying therapies, children high degree morbidity mortality. METHODS: Induced pluripotent stem cells...
With the emergence of electronic medical records and patient portals, patients are increasingly able to access their health records, including laboratory reports. However, reports usually written for clinicians rather than patients, who may not understand much information in report. While several professional guidelines define content test reports, there no inform development a patient-friendly In this Opinion, we consider barriers comprehension lab results suggest options reformat report...
We identified a family in which translocation between chromosomes X and 14 was associated with cognitive impairment complex genetic disorder termed "Genetic Epilepsy Febrile Seizures Plus" (GEFS(+)). demonstrate that the breakpoint on chromosome disrupted gene encodes an auxiliary protein of voltage-gated Na(+) channels, fibroblast growth factor 13 (Fgf13). Female mice one Fgf13 allele deleted exhibited hyperthermia-induced seizures epilepsy. Anatomic studies revealed expression mRNA both...
<h3>Importance</h3> X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory demyelination the central nervous system and adrenal cortex atrophy. In 2016, X-ALD was added US Recommended Uniform Screening Panel. <h3>Objective</h3> To evaluate performance single-tier newborn screening assay for North Carolina. <h3>Design, Setting, Participants</h3> This diagnostic study all dried blood spot specimens...
The biologic relationship between small B-cell lymphoma and histiocytic sarcoma (HS) when occurring in the same patient remains unclear, though recent data suggest a possible 'transdifferentiation' from follicular (FL) to HS. We investigated clonal two cases of with subsequent Case 1: A 62-year-old female splenic marginal zone (SMZL) developed HS groin lymph node 1 year after primary diagnosis. PCR/sequence analysis IGH gene showed monoclonal rearrangement carrying an identical nucleotide...
Abstract Defining disease severity in patients with Pompe is important for prognosis and monitoring the response to therapies. Current approaches include qualitative quantitative assessments of burden, clinical measures impact on affected systems. The aims this manuscript were review a noninvasive urinary glucose tetrasaccharide biomarker glycogen storage, discuss advances imaging techniques determining burden disease. tetrasaccharide, Glcα1‐6Glcα1‐4Glcα1‐4Glc (Glc 4 ), glycogen‐derived...
Despite the exciting advent of whole-exome sequencing (WES) in medical genetics practices, optimal interpretation results requires further actions such as reconsidering clinical information and obtaining laboratory testing. There are no published data to guide clinicians this process. In a retrospective study on 93 patients who underwent WES, we set out assess resolve these practical challenges. With laboratories reporting molecular diagnostic rate 25.8%, geneticists were 90% concordant...
Abstract Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP caused by pathogenic variants in the ALPL gene, which encodes tissue non-specific alkaline phosphatase. One major challenge diagnosing interpreting of uncertain significance (VUS), can create uncertainty for patients healthcare professionals, leading to delays diagnosis treatment or incorrect diagnoses. Since February 2021, gene variant consortium has...
Pseudo-Pelger-Huët anomaly (PPHA) has been documented in association with transplant medications and other drugs. This iatrogenic neutrophilic dysplasia is reversible cessation or adjustment of but frequently confused myelodysplastic syndrome (MDS) based on the conventional concept that PPHA a marker for dysplasia. We investigated clinicopathologic features compared them MDS-related PPHA. The 13 cases studied included 5 bone marrow/stem cell transplantations, 3 solid organ 1 autoimmune...