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Research Expertise & Professional Interests Martin H Steinberg, MD, is a hematologist/internist whose clinical and research focus has been on disorders of the red blood cell with special emphasis on sickle cell disease. He has published 450 articles and 3 textbooks on the science and clinical features of sickle cell disease and related disorders. A graduate of Cornell University and Tufts University School of Medicine he completed post-graduate training in New York and Boston. He conducts basic, translational and clinical studies devoted to understanding the pathophysiology and genetic basis of sickle cell phenotypic heterogeneity. He modeled the HbF concentration among red blood cells showing that only patients with very high HbF levels were likely to have major benefit, therefor setting a standard for HbF induction therapies. He identified cis- and trans-acting elements that help explain the high HbF levels of Saudi patients from the Eastern Province whose sickle hemoglobin gene is associated with the Arab-Indian haplotype. Using candidate gene, genome-wide association studies and next-generation sequencing to understand the genetic determinants of sickle cell disease heterogeneity, Dr. Steinberg and his coworkers modeled disease severity and selected subphenotypes of disease to discover hitherto unsuspected genetic associations. He has also reimagined the pathophysiologic features of sickle cell anemia, establishing with his collaborators a new widely accepted paradigm that the pathophysiology of sickle cell disease is a combination of both sickle vasoocclusion and intravascular hemolysis that has important prognostic and therapeutic implications. He also reported the first of a new class of hemoglobin disorders, the thalassemic hemoglobinopathies, wherein a single exonic mutation causes both a variant hemoglobin but also phenotype of thalassemia because of hemoglobin hyper-instability and catabolism.

One or more keywords matched the following items that are connected to Steinberg, Martin

Item TypeName
Concept Anemia, Sickle Cell
Concept Hemoglobin C Disease
Concept Hemoglobin SC Disease
Academic Article Erythrocyte calcium abnormalities in sickle cell disease.
Academic Article Sickle cell-beta-thalassemia: a common phenocopy of sickle cell anemia.
Academic Article Erytrocyte adherence to endothelium as a determinant of vasocclusive severity in sickle cell disease.
Academic Article Erythrocyte/endothelial interactions and the vasocclusive severity of sickle cell disease.
Academic Article Modulation of erythrocyte-endothelial interactions and the vasocclusive severity of sickling disorders.
Academic Article Sickle cell anemia and fetal hemoglobin.
Academic Article Transient disappearance of sickle hemoglobin after transfusion.
Academic Article Accelerated healing of chronic sickle-cell leg ulcers treated with RGD peptide matrix. RGD Study Group.
Academic Article Sickle cell trait vs disease.
Academic Article 5' hypersensitive site-2 and fetal hemoglobin in Brazilians.
Academic Article The interactions of alpha-thalassemia with hemoglobinopathies.
Academic Article Natural history of blood pressure in sickle cell disease: risks for stroke and death associated with relative hypertension in sickle cell anemia.
Academic Article Fetal hemoglobin in sickle cell anemia: examination of phylogenetically conserved sequences within the locus control region but outside the cores of hypersensitive sites 2 and 3.
Academic Article Determinants of fetal hemoglobin response to hydroxyurea.
Academic Article Cellular effects of hydroxyurea in Hb SC disease.
Academic Article Disturbance of plasma and platelet thrombospondin levels in sickle cell disease.
Academic Article Fetal hemoglobin in sickle cell anemia: relation to regulatory sequences cis to the beta-globin gene. Multicenter Study of Hydroxyurea.
Academic Article Modulation of the phenotypic diversity of sickle cell anemia.
Academic Article Beta-globin gene haplotype in Hb SC disease.
Academic Article Neonatal screening for sickle cell disease: a cost-effectiveness analysis.
Academic Article Review: sickle cell disease: present and future treatment.
Academic Article Hydroxyurea and sickle cell anemia. Clinical utility of a myelosuppressive "switching" agent. The Multicenter Study of Hydroxyurea in Sickle Cell Anemia.
Academic Article Fetal hemoglobin in sickle cell anemia: determinants of response to hydroxyurea. Multicenter Study of Hydroxyurea.
Academic Article RheothRx (poloxamer 188) injection for the acute painful episode of sickle cell disease: a pilot study.
Academic Article Management of sickle cell disease.
Academic Article Sickle cell anemia as a possible state of enhanced anti-apoptotic tone: survival effect of vascular endothelial growth factor on circulating and unanchored endothelial cells.
Academic Article Low-density lipoprotein susceptibility to oxidation and cytotoxicity to endothelium in sickle cell anemia.
Academic Article Hematological effects of atypical and Cameroon beta-globin gene haplotypes in adult sickle cell anemia.
Academic Article Maximum urine concentrating ability in children with Hb SC disease: effects of hydroxyurea.
Academic Article Sickle cell anemia: erythrokinetics, blood volumes, and a study of possible determinants of severity.
Academic Article Pharmacologic modulation of fetal hemoglobin.
Academic Article Pathophysiology of sickle cell disease.
Academic Article Hemoglobin F levels do not change during the painful crisis of sickle cell anemia.
Academic Article Unbalanced globin chain synthesis in erythroid precursor cells of heterozygous alpha-thalassaemia.
Academic Article Clinical, hematologic and biosynthetic studies in sickle cell-betao-thalassemia: a comparison with sickle cell anemia.
Academic Article Modulation of fetal hemoglobin in sickle cell anemia.
Academic Article Pathophysiology of sickle cell disease: role of cellular and genetic modifiers.
Academic Article Developing treatment for sickle cell disease.
Academic Article Pathophysiological-based approaches to treatment of sickle cell disease.
Academic Article Purified poloxamer 188 for treatment of acute vaso-occlusive crisis of sickle cell disease: A randomized controlled trial.
Academic Article New Views of Sickle Cell Disease Pathophysiology and Treatment.
Academic Article Concordant fetal hemoglobin response to hydroxyurea in siblings with sickle cell disease.
Academic Article Effect of hydroxyurea on mortality and morbidity in adult sickle cell anemia: risks and benefits up to 9 years of treatment.
Academic Article Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia.
Academic Article Hydroxyurea treatment for sickle cell disease.
Academic Article The paradox of hemoglobin SC disease.
Academic Article Therapies to increase fetal hemoglobin in sickle cell disease.
Academic Article Sickle cell anemia is associated with reduced nitric oxide bioactivity in peripheral conduit and resistance vessels.
Academic Article Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia.
Academic Article Laboratory profile of sickle cell disease: a cross-sectional analysis. The Cooperative Study of Sickle Cell Disease.
Academic Article A novel sickle hemoglobin: hemoglobin S-south end.
Academic Article Sickle cell disease.
Academic Article Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia.
Academic Article Erythropoietin for anemia of renal failure in sickle cell disease.
Academic Article Sickle cell vaso-occlusive crisis induces the release of circulating serum heat shock protein-70.
Academic Article Differential gene expression in pulmonary artery endothelial cells exposed to sickle cell plasma.
Academic Article Predicting clinical severity in sickle cell anaemia.
Academic Article Hemolysis-associated priapism in sickle cell disease.
Academic Article Sickle cell anemia: pathophysiology, management, and prospects for the future.
Academic Article Bone marrow transplantation in sickle cell disease: indications and successes.
Academic Article Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia.
Academic Article Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.
Academic Article Abnormal pulmonary function in adults with sickle cell anemia.
Academic Article Modifier genes and sickle cell anemia.
Academic Article Effect of beta-globin gene cluster haplotype on the hematological and clinical features of sickle cell anemia.
Academic Article N-terminal pro-brain natriuretic peptide levels and risk of death in sickle cell disease.
Academic Article Lacrimal gland enlargement in sickle cell disease.
Academic Article Deconstructing sickle cell disease: reappraisal of the role of hemolysis in the development of clinical subphenotypes.
Academic Article Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea.
Academic Article Pathophysiologically based drug treatment of sickle cell disease.
Academic Article Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway.
Academic Article Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia.
Academic Article Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B.
Academic Article Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb beta-globin gene deletion.
Academic Article Hemoglobin SE disease: a concise review.
Academic Article Pneumococcus and sickle cell disease: the beginning of the end?
Academic Article A network model to predict the risk of death in sickle cell disease.
Academic Article Clinical trials in sickle cell disease: adopting the combination chemotherapy paradigm.
Academic Article Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations.
Academic Article Sickle cell bone disease: response to vitamin D and calcium.
Academic Article Pulmonary arterial hypertension and left-sided heart disease in sickle cell disease: clinical characteristics and association with soluble adhesion molecule expression.
Academic Article Effectiveness of a dedicated day hospital for management of acute sickle cell pain.
Academic Article Identification of oxidative post-translational modification of serum albumin in patients with idiopathic pulmonary arterial hypertension and pulmonary hypertension of sickle cell anemia.
Academic Article Erythrocyte glutamine depletion, altered redox environment, and pulmonary hypertension in sickle cell disease.
Academic Article Association between wind speed and the occurrence of sickle cell acute painful episodes: results of a case-crossover study.
Academic Article Genetic etiologies for phenotypic diversity in sickle cell anemia.
Academic Article Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain.
Academic Article BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.
Academic Article Sickle cell anemia, the first molecular disease: overview of molecular etiology, pathophysiology, and therapeutic approaches.
Academic Article Hemoglobin SE disease in Maine, and severe thalassemia in New Hampshire.
Academic Article Genome-wide association studies and the genetic dissection of complex traits.
Academic Article Vasculopathy in sickle cell disease: Biology, pathophysiology, genetics, translational medicine, and new research directions.
Academic Article Climatic and geographic temporal patterns of pain in the Multicenter Study of Hydroxyurea.
Academic Article Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.
Academic Article Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients.
Academic Article Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study.
Academic Article The risks and benefits of long-term use of hydroxyurea in sickle cell anemia: A 17.5 year follow-up.
Academic Article Leg ulcers in sickle cell disease.
Academic Article Severe sickle cell anemia is associated with increased plasma levels of TNF-R1 and VCAM-1.
Academic Article The effects of hydroxycarbamide and magnesium on haemoglobin SC disease: results of the multi-centre CHAMPS trial.
Academic Article Pulmonary hypertension and NO in sickle cell.
Academic Article Laboratory Diagnosis of sickling hemoglobinopathies.
Academic Article G6PD deficiency and stroke in the CSSCD.
Academic Article The association between hydroxyurea treatment and pain intensity, analgesic use, and utilization in ambulatory sickle cell anemia patients.
Academic Article Fetal hemoglobin in sickle cell anemia.
Academic Article Ancestry of African Americans with sickle cell disease.
Academic Article In the clinic. Sickle cell disease.
Academic Article Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin.
Academic Article Fetal hemoglobin in sickle cell anemia: Saudi patients from the Southwestern province have similar HBB haplotypes but higher HbF levels than African Americans.
Academic Article Senicapoc trial results support the existence of different sub-phenotypes of sickle cell disease with possible drug-induced phenotypic shifts.
Academic Article Clinical and radiologic findings of inner ear involvement in sickle cell disease.
Academic Article Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans.
Academic Article A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
Academic Article Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.
Academic Article Monocytes from sickle cell disease patients induce differential pulmonary endothelial gene expression via activation of NF-?B signaling pathway.
Academic Article Genetic modifiers of sickle cell disease.
Academic Article A functional promoter polymorphism of the d-globin gene is a specific marker of the Arab-Indian haplotype.
Academic Article Quantitative MRI analysis of craniofacial bone marrow in patients with sickle cell disease.
Academic Article Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.
Academic Article qMRI relaxometry of mandibular bone marrow: a monomodal distribution in sickle cell disease.
Academic Article Quantitative MRI analysis of salivary glands in sickle cell disease.
Academic Article Craniofacial bone infarcts in sickle cell disease: clinical and radiological manifestations.
Academic Article Genetic determinants of haemolysis in sickle cell anaemia.
Academic Article Genetic studies of fetal hemoglobin in the Arab-Indian haplotype sickle cell-ß(0) thalassemia.
Academic Article Effect of lead and ethanol upon gamma-globin synthesis in sickle reticulocytes.
Academic Article Erythrocyte calcium abnormalities and the clinical severity of sickling disorders.
Academic Article Sickle Cell Disease: Basic Principles and Clinical Practice
Academic Article Regional and temporal variation in oscillatory blood flow in sickle cell disease.
Academic Article Determinants of vaso-occlusive severity in sickle cell disease.
Academic Article Effects of glucose-6-phosphate dehydrogenase deficiency upon sickle cell anemia.
Academic Article Alpha-thalassemia in blacks: genetic and clinical aspects and interactions with the sickle hemoglobin gene.
Academic Article Screening for sickle cell trait: the Veterans Administration National Sickle Cell Program.
Academic Article Alpha-thalassemia in blacks: interactions with the sickle hemoglobin gene.
Academic Article A new gene deletion in the alpha-like globin gene cluster as the molecular basis for the rare alpha-thalassemia-1(--/alpha alpha) in blacks: HbH disease in sickle cell trait.
Academic Article Influence of HbS levels upon the hematological and clinical characteristics of sickle cell trait.
Academic Article Alpha thalassaemia in adults with sickle-cell trait.
Academic Article Haemoglobin C/alpha thalassaemia: haematological and biosynthetic studies.
Academic Article Glucose-6-phosphate dehydrogenase deficiency in Sickle-cell anemia. A study in adults.
Academic Article Effects of dexamethasone on fetal hemoglobin synthesis in peripheral blood erythroid burst-forming units.
Academic Article Spontaneous oxygen radical generation by sickle erythrocytes.
Academic Article Expression of two G-6-PD genes in an XX phenotypic male.
Academic Article Sickle cell trait and splenic syndrome.
Academic Article Mild sickle cell disease. Clinical and laboratory studies.
Academic Article Electrophoresis of hemoglobin on polyacrylamide gels: precise method for measurement of hemoglobin A2.
Academic Article Clinical diversity of sickle cell anemia: genetic and cellular modulation of disease severity.
Academic Article Review: the sickle hemoglobinopathies--genetic analyses of common phenocopies and new molecular approaches to treatment.
Academic Article The effects of alpha-thalassaemia in HbSC disease.
Academic Article Evidence of hyposplenism in the presence of splenomegaly.
Academic Article Effects of thalassemia and microcytosis on the hematologic and vasoocclusive severity of sickle cell anemia.
Academic Article Erythrocyte/endothelial interactions in the pathogenesis of sickle-cell disease: a "real logical" assessment.
Academic Article Sickle cell anemia and iron deficiency.
Academic Article Erythrocyte adherence to endothelium in sickle-cell anemia. A possible determinant of disease severity.
Academic Article Gender and haplotype effects upon hematological manifestations of adult sickle cell anemia.
Academic Article Hydroxyurea: an alternative to transfusion therapy for stroke in sickle cell anemia.
Academic Article Sickle cell anemia in septuagenarians.
Academic Article A new alpha alpha alpha anti-3.7 alpha-globin allele.
Academic Article Genetic modulation of sickle cell anemia.
Academic Article Mortality in sickle cell disease. Life expectancy and risk factors for early death.
Academic Article HbC disorders.
Academic Article An official American Thoracic Society clinical practice guideline: diagnosis, risk stratification, and management of pulmonary hypertension of sickle cell disease.
Academic Article How we prevent and manage infection in sickle cell disease.
Academic Article Fetal hemoglobin in sickle cell anemia: a glass half full?
Academic Article Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab-Indian haplotype is not benign.
Academic Article Prediction of fetal hemoglobin in sickle cell anemia using an ensemble of genetic risk prediction models.
Academic Article Cerebrovascular events in sickle cell-beta thalassemia treated with hydroxyurea: a single center prospective survey in adult Italians.
Academic Article Genetic modulation of HbF in Brazilians with HbSC disease and sickle cell anemia.
Academic Article A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia.
Academic Article Hypoxic response contributes to altered gene expression and precapillary pulmonary hypertension in patients with sickle cell disease.
Academic Article Quantification of HBG mRNA in primary erythroid cultures: prediction of the response to hydroxyurea in sickle cell and beta-thalassemia.
Academic Article Deferiprone versus deferoxamine in sickle cell disease: results from a 5-year long-term Italian multi-center randomized clinical trial.
Academic Article Quantitative magnetic resonance imaging analysis of the lacrimal gland in sickle cell disease.
Academic Article Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
Academic Article More blood for sickle cell anemia?
Academic Article HbA2 : biology, clinical relevance and a possible target for ameliorating sickle cell disease.
Academic Article The genetics of hemoglobin A2 regulation in sickle cell anemia.
Academic Article A novel HBA2 gene conversion in cis or trans: "a12 allele" in a Saudi population.
Academic Article Hematology clinic. Sickle cell disease.
Academic Article Reply: Practice guideline for pulmonary hypertension in sickle cell: direct evidence needed before universal adoption.
Academic Article BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.
Academic Article Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease.
Academic Article Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease.
Academic Article Minireview: Genetic basis of heterogeneity and severity in sickle cell disease.
Academic Article Effects of hydroxyurea on F-cells in sickle cell disease and potential impact of a second fetal globin inducer.
Academic Article Variants of ZBTB7A (LRF) and its ß-globin gene cluster binding motifs in sickle cell anemia.
Academic Article Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia.
Academic Article Learning Bayesian Networks from Correlated Data.
Academic Article Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease.
Academic Article A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia.
Academic Article Sickle Cell Disease.
Academic Article Intravascular hemolysis and the pathophysiology of sickle cell disease.
Academic Article Genetic modulation of fetal hemoglobin in hydroxyurea-treated sickle cell anemia.
Academic Article A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells.
Grant Controlled Study to Determine the Effects of Procrit kEpoetin Alfa in Patients with Sickle Cell Anemia Who are Receiving Hydroxyurea
Grant Genetic Modulation of Sickle Cell Anemia
Grant A Phase II, Multicenter, Twelve-Week, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Dose-Range-Finding Study of the Efficacy and Safety of ICA-17043 with or without Hydorxyurea Therapy in Patients with Sickle Cell Anemia
Academic Article Genome-wide association study to identify variants associated with acute severe vaso-occlusive pain in sickle cell anemia.
Academic Article Genetic determinants of HbF in Saudi Arabian and African Benin haplotype sickle cell anemia.
Academic Article A phased SNP-based classification of sickle cell anemia HBB haplotypes.
Academic Article Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents.
Academic Article Sickle Cell Disease.
Academic Article Biomarker signatures of sickle cell disease severity.
Academic Article A New Trans-Acting Modulator of Fetal Hemoglobin?
Academic Article Haemolysis in sickle cell anaemia: effects of polymorphisms in a-globin gene regulatory elements.
Academic Article Inhibition of LSD1 by small molecule inhibitors stimulates fetal hemoglobin synthesis.
Academic Article Primary polymerization prevention.
Academic Article "Sickling" in vertebrates: Animal studies vs. sickle cell disease.
Academic Article BCL2L1 is associated with ?-globin gene expression.
Academic Article Haptoglobin genotype predicts severe acute vaso-occlusive pain episodes in children with sickle cell anemia.
Academic Article Treating sickle cell anemia: A new era dawns.
Grant Mechanisms of cis-acting HbF regulation in sickle cell anemia
Academic Article Prevalence and Diversity of Haplotypes of Sickle Cell Disease in the Eastern Province of Saudi Arabia.
Academic Article Fetal Hemoglobin in Sickle Cell Anemia.
Academic Article Sickle cell disease in the era of precision medicine: looking to the future.
Grant A prototype diagnostic for cellular fetal hemoglobin in sickle cell disease
Grant Severity Index for Sickle Cell anemia in the Eastern Province of Saudi Arabia
Grant A prototype diagnostic for cellular fetal hemoglobin in sickle cell disease
Grant Mechanisms of cis-acting HbF regulation in sickle cell anemia
Grant Genetic Basis of Fetal Hemoglobin in Saudi Sickle Cell Anemia

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