A5061155508- Hemoglobinopathies and Related Disorders
- Erythrocyte Function and Pathophysiology
- Blood groups and transfusion
- Iron Metabolism and Disorders
- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- RNA modifications and cancer
- Folate and B Vitamins Research
- Blood properties and coagulation
- Complement system in diseases
- Glycosylation and Glycoproteins Research
- Blood disorders and treatments
- Neonatal Health and Biochemistry
- Prenatal Screening and Diagnostics
- Cancer-related molecular mechanisms research
- Hemoglobin structure and function
- Monoclonal and Polyclonal Antibodies Research
- Pharmacological Effects and Toxicity Studies
- Hematological disorders and diagnostics
- Diabetes and associated disorders
- Acute Myeloid Leukemia Research
- Bone and Joint Diseases
- Platelet Disorders and Treatments
- Kruppel-like factors research
Duke University
2016-2025
Duke Medical Center
2014-2024
Duke University Hospital
1995-2022
Duke University Health System
2001-2022
University of Pittsburgh
2014
Durham VA Medical Center
2008-2011
University of North Carolina at Chapel Hill
2003-2008
Center for Human Genetics
2008
University of North Carolina Health Care
2008
Clinical Research Management
2007
Recent studies have underscored questions about the balance of risk and benefit RBC transfusion. A better understanding nature timing molecular functional changes in stored RBCs may provide strategies to improve We analyzed occurring during storage focusing on deformability, RBC-dependent vasoregulatory function, S -nitrosohemoglobin (SNO-Hb), through which hemoglobin (Hb) O 2 desaturation is coupled regional increases blood flow vivo (hypoxic vasodilation). Five hundred ml from each 15...
Sickle cell disease (SCD) is a pleiotropic genetic disorder of hemoglobin that has profound multiorgan effects. The low prevalence SCD ( approximately 100,000/US) limited progress in clinical, basic, and translational research. Lack large, readily accessible population for clinical studies contributed to the absence standard definitions diagnostic criteria numerous complications inadequate understanding pathophysiology. In 2005, Comprehensive Cell Centers initiated project establish...
In this study, the relationship of clinical differences among patients with sickle cell disease (SCD) was examined to understand major contributors early mortality in a contemporary cohort. Survival data were obtained for 542 adult subjects who enrolled since 2002 at three university hospitals southeast United States. Subjects followed up median 9.3 years. At enrollment, parameters collected, including hemoglobin (Hb) genotype, baseline laboratory values, comorbidities, and medication usage....
Section:ChooseTop of pageAbstract <<ContentsOverviewIntroductionMethodsHow to Use These Guidelin...Definition PH in SCDDiagnosis SCDEstimating Mortality Risk...Treatment Patients wit...Future DirectionsReferencesCITING ARTICLES
Abstract Screening for pulmonary hypertension (pHTN) has not yet become routine in sickle cell disease (SCD), despite clinical evidence of its high prevalence and associated mortality. Our objectives are to identify conditions laboratory findings predictive of/or with pHTN. One hundred twenty‐five adult outpatients Hb SS, SC, SOArab, Sβ 0 , or + thalassemia, who underwent echocardiography and/or right heart catheterization due cardiorespiratory symptoms, were studied. pHTN was identified 36%...
Sickle red cells bind significant amounts of soluble laminin, whereas normal do not. Solid phase assays demonstrate that B-CAM/LU binds laminin on intact sickle and cell immobilized another putative binding protein, CD44, does Ligand blots also identify as the only erythrocyte membrane protein(s) laminin. Finally, transfection murine erythroleukemia with human B-CAM cDNA induces both Thus, appears to be major laminin-binding protein cells. Previously reported overexpression by epithelial...
Sickle cell disease (SCD) is associated with early mortality. We sought to determine the incidence, cause, and risk factors for death in an adult population of patients SCD. All aged >/=18 years seen at Adult Cell Center Duke University Medical between January 2000 April 2005 were enrolled. Forty-three (21 males 22 females) died during study period. The median age survival was 39 females (95% CI: 34-56), 40 34-48), overall 35-48). Cardiac causes accounted 25.6% (11/43 patients); pulmonary,...
Since mature erythrocytes are terminally differentiated cells without nuclei and organelles, it is commonly thought that they do not contain nucleic acids. In this study, we have re-examined issue by analyzing the transcriptome of a purified population human from individuals with normal hemoglobin (HbAA) homozygous sickle cell disease (HbSS).Using combination microarray analysis, real-time RT-PCR Northern blots, found erythrocytes, while lacking ribosomal large-sized RNAs, abundant diverse...
An 85- to 95 kDa class of lymphocyte surface molecules, defined in man by antibodies the Hermes series, is involved binding high endothelial venules and likely central importance process homing. In this report, we have examined relationship between these Hermes-defined "homing-receptors" two other 80 molecules that been extensively studied--CD44 [In(Lu)-related p80] mAb A1G3 A3D8, Pgp-1 antibody IM7. Our findings indicate that, man, similar or identical glycoprotein(s) are recognized...
Summary Renal failure occurs in 5–18% of sickle cell disease (SCD) patients and is associated with early mortality. At‐risk SCD cannot be identified prior to the appearance proteinuria pathobiology not well understood. The myosin, heavy chain 9, non‐muscle ( MYH9) apolipoprotein L1 APOL1) genes have been risk for focal segmental glomerulosclerosis end‐stage renal African Americans. We genotyped 26 single nucleotide polymorphisms (SNPs) MYH9 2 SNPs APOL1 (representing G1 G2 tags) 521...
Human erythrocytes are terminally differentiated, anucleate cells long thought to lack RNAs. However, previous studies have shown the persistence of many small-sized RNAs in erythrocytes. To comprehensively define erythrocyte transcriptome, we used high-throughput sequencing identify both short (18–24 nt) and (>200 mature Analysis RNA transcriptome with miRDeep identified 287 known 72 putative novel microRNAs. Unexpectedly, also uncover an extensive repertoire that encode proteins critical...
Sickle cell disease is one of the most common inherited blood disorders. Universal screening and early intervention have significantly helped to reduce childhood mortality in high-resource countries. However, persons living low-resource settings are often not diagnosed until late when they present with clinical symptoms. In addition, confirmation affected individuals urgent care setting limited both high- areas, leading delay treatment. All current diagnostic methods rely on advanced...
Key Points Depression was found in 35.2% of adult SCD patients and strongly associated with worse physical mental quality-of-life outcomes. Total health care costs for depression were more than double those without depression.
Genetic studies on telomere length are important for understanding age-related diseases. Prior GWASs leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study across ancestrally diverse individuals (European, African, Asian, Hispanic/Latino) from NHLBI Trans-Omics Precision Medicine (TOPMed) program. We used whole-genome sequencing (WGS) of whole blood variant genotype calling bioinformatic estimation in n = 109,122...
Most transcriptome-wide association studies (TWASs) so far focus on European ancestry and lack diversity. To overcome this limitation, we aggregated genome-wide study (GWAS) summary statistics, whole-genome sequences expression quantitative trait locus (eQTL) data from diverse ancestries. We developed a new approach, TESLA (multi-ancestry integrative using an optimal linear combination of statistics), to integrate eQTL dataset with multi-ancestry GWAS. By exploiting shared phenotypic effects...