Genetic Modifiers of Sickle Cell Disease

Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin

(2011) S. Satta et al.   HAEMATOLOGICA

Erythroid phenotypes associated with KLF1 mutations

(2011) J. Borg et al.   HAEMATOLOGICA

Genetic Etiologies for Phenotypic Diversity in Sickle Cell Anemia

(2011) Martin H. Steinberg   TheScientificWorldJOURNAL

A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

(2010) Lionel Arnaud et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia

(2010) J. Makani et al.   BLOOD

c-myb supports erythropoiesis through the transactivation of KLF1 and LMO2 expression

(2010) E. Bianchi et al.   BLOOD

Strong association between a new marker of hemolysis and glomerulopathy in sickle cell anemia

(2010) Micheline Maier-Redelsperger et al.   BLOOD CELLS MOLECULES AND DISEASES

Alpha-thalassemia is associated with a decreased occurrence and a delayed age-at-onset of albuminuria in sickle cell anemia patients

(2010) Danitza Nebor et al.   BLOOD CELLS MOLECULES AND DISEASES

Association between Duffy antigen receptor for chemokines expression and levels of inflammation markers in sickle cell anemia patients

(2010) Danitza Nebor et al.   CLINICAL IMMUNOLOGY

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

Epigenetic modifications and human disease

(2010) Anna Portela et al.   NATURE BIOTECHNOLOGY

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

(2010) Joseph Borg et al.   NATURE GENETICS

KLF1 regulates BCL11A expression and γ- to β-globin gene switching

(2010) Dewang Zhou et al.   NATURE GENETICS

Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation

(2010) Geneviève Galarneau et al.   NATURE GENETICS

Screening Student Athletes for Sickle Cell Trait — A Social and Clinical Experiment

(2010) Vence L. Bonham et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomewide Association Studies and Assessment of the Risk of Disease

(2010) Teri A. Manolio   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence and clinical correlates of microalbuminuria in children with sickle cell disease

(2010) Lauren J. Becton et al.   PEDIATRIC NEPHROLOGY

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Effects ofRANTESandMBL2gene polymorphisms in sickle cell disease clinical outcomes: Association of the g.In1.1T>CRANTESvariant with protection against infections

(2009) Omer Placide Dossou-Yovo et al.   AMERICAN JOURNAL OF HEMATOLOGY

Amelioration of Sardinian  0 thalassemia by genetic modifiers

(2009) R. Galanello et al.   BLOOD

Glucose 6 phosphate dehydrogenase deficiency is not associated with cerebrovascular disease in children with sickle cell anemia

(2009) D. C. Rees et al.   BLOOD

Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster

(2009) N. Solovieff et al.   BLOOD

Discovering the genetics underlying foetal haemoglobin production in adults

(2009) Swee Lay Thein et al.   BRITISH JOURNAL OF HAEMATOLOGY

A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E

(2009) Manit Nuinoon et al.   HUMAN GENETICS

Control of fetal hemoglobin: new insights emerging from genomics and clinical implications

(2009) S. L. Thein et al.   HUMAN MOLECULAR GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Genetic Variation on Chromosome 6 Influences F Cell Levels in Healthy Individuals of African Descent and HbF Levels in Sickle Cell Patients

(2009) Lisa E. Creary et al.   PLoS One

Epistatic interactions between genetic disorders of hemoglobin can explain why the sickle-cell gene is uncommon in the Mediterranean

(2009) Bridget S. Penman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

HLA-G polymorphism influences the susceptibility to HCV infection in sickle cell disease patients

(2009) E. A. A. Cordero et al.   TISSUE ANTIGENS

Association of sickle avascular necrosis with bone morphogenic protein 6

(2008) Pinar Ulug et al.   ANNALS OF HEMATOLOGY

Efficacy and safety of the Gardos channel blocker, senicapoc (ICA-17043), in patients with sickle cell anemia

(2008) K. I. Ataga et al.   BLOOD

Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease

(2008) A. E. Ashley-Koch et al.   BLOOD

G6PD deficiency, absence of  -thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia

(2008) F. Bernaudin et al.   BLOOD

BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies

(2008) Amanda E. Sedgewick et al.   BLOOD CELLS MOLECULES AND DISEASES

Fetal haemoglobin response to hydroxycarbamide treatment and sar1a promoter polymorphisms in sickle cell anaemia

(2008) Chutima Kumkhaek et al.   BRITISH JOURNAL OF HAEMATOLOGY

Sickle cell disease in a carrier with pyruvate kinase deficiency

(2008) Nazeer Alli et al.   Hematology

Applying mouse complex-trait resources to behavioural genetics

(2008) Jonathan Flint et al.   NATURE

MRI abnormalities of the brain in one-year-old children with sickle cell anemia

(2008) Winfred C. Wang et al.   PEDIATRIC BLOOD & CANCER

Chronic Hyper-Hemolysis in Sickle Cell Anemia: Association of Vascular Complications and Mortality with Less Frequent Vasoocclusive Pain

(2008) James G. Taylor et al.   PLoS One

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of  -thalassemia

(2008) M. Uda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA polymorphisms at the BCL11A, HBS1L-MYB, and  -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

(2008) G. Lettre et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evidence for HLA class II susceptible and protective haplotypes for osteomyelitis in pediatric patients with sickle cell anemia

(2008) K. Al-Ola et al.   TISSUE ANTIGENS