(Q37680651)

English

Beta-thalassemia.

scientific article published on February 2010

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

1 reference

Europe PubMed Central

Beta-thalassemia. (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

author name string

Antonio Cao

1

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

Renzo Galanello

2

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

language of work or name

0 references

publication date

1 February 2010

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

Genetics in Medicine

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

61-76

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181cd68ed

0 references

Beta-thalassemia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

New insights into the pathophysiology and management of osteoporosis in patients with beta thalassaemia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Osteoporosis in beta-thalassemia: Clinical and genetic aspects

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Hepatocellular carcinoma in the thalassaemia syndromes

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

The hypercoagulable state in thalassemia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Liver iron concentrations and urinary hepcidin in beta-thalassemia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Molecular analysis of alpha/beta-thalassemia in a southern Chinese population

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Thalassaemia intermedia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Genotype-phenotype correlations in beta-thalassemias.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Multiple mutations produce delta beta 0 thalassemia in Sardinia.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Discovering the genetics underlying foetal haemoglobin production in adults.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

BCL11A represses HBG transcription in K562 cells

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Amelioration of Sardinian beta0 thalassemia by genetic modifiers

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Dominant beta thalassaemia: molecular basis and pathophysiology

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Is it dominantly inherited beta thalassaemia or just a beta-chain variant that is highly unstable?

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Loss of alpha-hemoglobin-stabilizing protein impairs erythropoiesis and exacerbates beta-thalassemia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

The interaction between Gilbert's syndrome and G6PD deficiency influences bilirubin levels.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Nontransfusional iron overload in thalassemia. Association with hereditary hemochromatosis.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Common west African HLA antigens are associated with protection from severe malaria

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Prenatal diagnosis and screening of the haemoglobinopathies.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Human alpha-thalassemia syndromes: detection of molecular defects

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Screening for thalassemia: a model of success.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Identification of nucleated red blood cells in maternal circulation: a second step in screening for fetal aneuploidies and pregnancy complications.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Recent advances in fetal nucleic acids in maternal plasma

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Modern treatment of thalassaemia intermedia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Myocardial iron clearance during reversal of siderotic cardiomyopathy with intravenous desferrioxamine: a prospective study using T2* cardiovascular magnetic resonance

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Monitoring long-term efficacy of iron chelation therapy by deferiprone and desferrioxamine in patients with beta-thalassaemia major: application of SQUID biomagnetic liver susceptometry

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Safety and effectiveness of long-term therapy with the oral iron chelator deferiprone

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Comparison of effects of oral deferiprone and subcutaneous desferrioxamine on myocardial iron concentrations and ventricular function in beta-thalassaemia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Cardiac morbidity and mortality in deferoxamine- or deferiprone-treated patients with thalassemia major

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

The safety and effectiveness of deferiprone in a large-scale, 3-year study in Italian patients

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic myocardial siderosis

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Light and shadows in the iron chelation treatment of haematological diseases

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: new data, new questions

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

A randomized, placebo-controlled, double-blind trial of the effect of combined therapy with deferoxamine and deferiprone on myocardial iron in thalassemia major using cardiovascular magnetic resonance

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Combined chelation therapy in thalassemia major for the treatment of severe myocardial siderosis with left ventricular dysfunction.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Long-term sequential deferiprone-deferoxamine versus deferiprone alone for thalassaemia major patients: a randomized clinical trial

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Value of sequential monitoring of left ventricular ejection fraction in the management of thalassemia major

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Onset of cardiac iron loading in pediatric patients with thalassemia major.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Stem cell transplantation for hemoglobinopathies

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Sibling donor cord blood transplantation for thalassemia major: Experience of the Sibling Donor Cord Blood Program.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Understanding mechanisms of gamma-globin gene regulation to develop strategies for pharmacological fetal hemoglobin induction

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Molecular therapies in beta-thalassaemia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Hydroxyurea can eliminate transfusion requirements in children with severe β-thalassemia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Therapeutic options for patients with severe beta-thalassemia: the need for globin gene therapy

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Successful correction of the human beta-thalassemia major phenotype using a lentiviral vector

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Correction of the sickle cell mutation in embryonic stem cells

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

In vitro reprogramming of fibroblasts into a pluripotent ES-cell-like state

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

8 The population genetics of the haemoglobinopathies

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Identifiers

10.1097/GIM.0B013E3181CD68ED

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q37680651&oldid=2111045457"