(Q37810126)

23 August 2017

Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment (English)

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23 August 2017

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Kleber Yotsumoto Fertrin

series ordinal

1

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author name string

Fernando Ferreira Costa

series ordinal

2

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23 August 2017

1 August 2010

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Expert Review of Hematology

23 August 2017

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23 August 2017

3

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23 August 2017

4

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23 August 2017

443-458

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Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin

23 August 2017

1 reference

Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia.

21 January 2018

1 reference

Modifier genes and sickle cell anemia

21 January 2018

1 reference

Predicting clinical severity in sickle cell anaemia.

21 January 2018

1 reference

Sickle cell anemia, the first molecular disease: overview of molecular etiology, pathophysiology, and therapeutic approaches.

21 January 2018

1 reference

Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia

21 January 2018

1 reference

Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia

21 January 2018

1 reference

The International HapMap Project

21 January 2018

1 reference

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

21 January 2018

1 reference

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

21 January 2018

1 reference

Prospects of genetic epidemiology in the 21st century

21 January 2018

1 reference

The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology

21 January 2018

1 reference

Detecting gene-gene interactions that underlie human diseases

21 January 2018

1 reference

Finding the missing heritability of complex diseases

21 January 2018

1 reference

Methodological challenges of genome-wide association analysis in Africa

21 January 2018

1 reference

Computation for ChIP-seq and RNA-seq studies

21 January 2018

1 reference

ChIP-seq: advantages and challenges of a maturing technology

21 January 2018

1 reference

Exploring strategies for the design of artificial transcription factors: targeting sites proximal to known regulatory regions for the induction of gamma-globin expression and the treatment of sickle cell disease

21 January 2018

1 reference

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

21 January 2018

1 reference

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

21 January 2018

1 reference

Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil.

21 January 2018

1 reference

beta S haplotypes, alpha-globin gene status, and hematological data of sickle cell disease patients in Guadeloupe (F.W.I.).

21 January 2018

1 reference

Beta-cluster haplotypes, alpha-gene status, and hematological data from SS, SC, and S-beta-thalassemia patients in southern California

21 January 2018

1 reference

Alpha thalassemia changes erythrocyte heterogeneity in sickle cell disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Gelation of sickle cell hemoglobin in mixtures with normal adult and fetal hemoglobins

21 January 2018

1 reference

Solubilization of hemoglobin S by other hemoglobins

21 January 2018

1 reference

Sickle cell disease in a Brazilian population from Sao Paulo: a study of the beta s haplotypes.

21 January 2018

1 reference

The Xmn I site (-158, C----T) 5' to the G gamma gene: correlation with the Senegalese haplotype and G gamma globin expression

21 January 2018

1 reference

The relative importance of the X-linked FCP locus and beta-globin haplotypes in determining haemoglobin F levels: a study of SS patients homozygous for beta S haplotypes.

21 January 2018

1 reference

Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23.

21 January 2018

1 reference

Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach.

21 January 2018

1 reference

Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients

21 January 2018

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Interaction between two quantitative trait loci affects fetal haemoglobin expression

21 January 2018

1 reference

Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The effect of CYP2D6 polymorphisms on the response to pain treatment for pediatric sickle cell pain crisis

21 January 2018

1 reference

The pharmacokinetics of codeine and its metabolites in Blacks with sickle cell disease

21 January 2018

1 reference

Association of the MBL2 gene EXON1 polymorphism and vasoocclusive crisis in patients with sickle cell anemia.

21 January 2018

1 reference

Klotho protein protects against endothelial dysfunction.

21 January 2018

1 reference

The methylene tetrahydrofolate reductase (C677T) mutation as a potential risk factor for avascular necrosis in sickle cell disease

21 January 2018

1 reference

Sickle cell disease as a cause of osteonecrosis of the femoral head

21 January 2018

1 reference

Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis

21 January 2018

1 reference

Klotho, a gene related to a syndrome resembling human premature aging, functions in a negative regulatory circuit of vitamin D endocrine system

21 January 2018

1 reference

Gene expression signatures in MLL-rearranged T-lineage and B-precursor acute leukemias: dominance of HOX dysregulation.

21 January 2018

1 reference

Relationship between Fc receptor IIA polymorphism and infection in children with sickle cell disease

21 January 2018

1 reference

Infectious complications in sickle cell disease are influenced by HLA class II alleles.

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections.

21 January 2018

1 reference

Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia

21 January 2018

1 reference

Effects of RANTES and MBL2 gene polymorphisms in sickle cell disease clinical outcomes: association of the g.In1.1T>C RANTES variant with protection against infections.

21 January 2018

1 reference

Polymorphisms of chemokine receptors and eNOS in Brazilian patients with sickle cell disease.

21 January 2018

1 reference

Defining stroke risk in children with sickle cell anaemia

21 January 2018

1 reference

Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genomewide screen

21 January 2018

1 reference

Acute clinical events in 299 homozygous sickle cell patients living in France. French Study Group on Sickle Cell Disease

21 January 2018

1 reference

Alpha Thalassemia is associated with decreased risk of abnormal transcranial Doppler ultrasonography in children with sickle cell anemia.

21 January 2018

1 reference

Silent infarction as a risk factor for overt stroke in children with sickle cell anemia: a report from the Cooperative Study of Sickle Cell Disease.

21 January 2018

1 reference

Stroke in a cohort of patients with homozygous sickle cell disease

21 January 2018

1 reference

Combined effects of calcineurin inhibitors or sirolimus with anti-CD40L mAb on alloengraftment under nonmyeloablative conditions

21 January 2018

1 reference

Distinct HLA associations by stroke subtype in children with sickle cell anemia

21 January 2018

1 reference

Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia

21 January 2018

1 reference

Antithrombotic thrombocytes: ectopic expression of urokinase-type plasminogen activator in platelets

21 January 2018

1 reference

Programmed death 1 signaling on chronic myeloid leukemia-specific T cells results in T-cell exhaustion and disease progression.

21 January 2018

1 reference

Cholelithiasis in sickle cell anemia.

21 January 2018

1 reference

The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome

21 January 2018

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UGT1A1 promoter polymorphisms and the development of hyperbilirubinemia and gallbladder disease in children with sickle cell anemia

21 January 2018

1 reference

UGT1A1 variation and gallstone formation in sickle cell disease

21 January 2018

1 reference

UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia.

21 January 2018

1 reference

Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia.

21 January 2018

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The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease

21 January 2018

1 reference

Renal abnormalities in sickle cell disease

21 January 2018

1 reference

Effects of alpha-thalassemia and sickle polymerization tendency on the urine-concentrating defect of individuals with sickle cell trait

21 January 2018

1 reference

Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway

21 January 2018

1 reference

Functional significance of Tie2 signaling in the adult vasculature

21 January 2018

1 reference

Pulmonary hypertension as a risk factor for death in patients with sickle cell disease

21 January 2018

1 reference

Mutations and polymorphisms in hemoglobin genes and the risk of pulmonary hypertension and death in sickle cell disease

21 January 2018

1 reference

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

21 January 2018

1 reference

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

21 January 2018

1 reference

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

21 January 2018

1 reference

Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia

21 January 2018

1 reference

Requirement of type III TGF-beta receptor for endocardial cell transformation in the heart

21 January 2018

1 reference

The water channel aquaporin-1 partitions into exosomes during reticulocyte maturation: implication for the regulation of cell volume

21 January 2018

1 reference

Evidence that aquaporin 1 is a major pathway for CO2 transport across the human erythrocyte membrane

21 January 2018

1 reference

Coagulation factor XIII gene variation, oral contraceptives, and risk of ischemic stroke

21 January 2018

1 reference

Identification of hemochromatosis gene polymorphisms in chronically transfused patients with sickle cell disease.

21 January 2018

1 reference

Clinical significance of RBC alloantibodies and autoantibodies in sickle cell patients who received transfusions

21 January 2018

1 reference

rs660 polymorphism in Ro52 (SSA1; TRIM21) is a marker for age-dependent tolerance induction and efficiency of alloimmunization in sickle cell disease.

21 January 2018

1 reference

Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea

21 January 2018

1 reference

Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B

21 January 2018

1 reference

Genetic polymorphisms associated with priapism in sickle cell disease

21 January 2018

1 reference

Association of sickle avascular necrosis with bone morphogenic protein 6

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1586/EHM.10.44

1 reference

23 August 2017

1 reference

PubMed ID

21083035