Klotho: its various functions and association with sickle cell disease subphenotypes

Detalhes bibliográficos
Autor(a) principal: Pacheco,Ana Paula Almeida de Souza
Data de Publicação: 2014
Outros Autores: Goncalves,Marilda
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Revista brasileira de hematologia e hemoterapia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842014000600430
Resumo: The Klotho protein, whose gene has predominant renal expression, acts in the control of serum phosphorus and 1,25-dihydroxyvitamin D3 and regulates the function of ion channels. It also participates in the mechanism of protection against oxidative stress and acts on the vascular endothelium by inducing the production of nitric oxide. Mutations that reflect defects in the Klotho gene expression may be implicated in the onset of osteonecrosis, priapism, and leg ulcers in patients with sickle cell disease, as a result of oxidative stress and endothelial impairment, important factors in the development and severity of this disease. Previous reports regarding the association of Klotho single nucleotide polymorphisms with sickle cell disease subphenotypes have found that these polymorphisms are important to identify genetic markers of risk in these individuals and allow early and more effective therapeutic intervention.
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spelling Klotho: its various functions and association with sickle cell disease subphenotypesVitamin DOxidative stressSickle cell diseaseEndotheliumGene polymorphismThe Klotho protein, whose gene has predominant renal expression, acts in the control of serum phosphorus and 1,25-dihydroxyvitamin D3 and regulates the function of ion channels. It also participates in the mechanism of protection against oxidative stress and acts on the vascular endothelium by inducing the production of nitric oxide. Mutations that reflect defects in the Klotho gene expression may be implicated in the onset of osteonecrosis, priapism, and leg ulcers in patients with sickle cell disease, as a result of oxidative stress and endothelial impairment, important factors in the development and severity of this disease. Previous reports regarding the association of Klotho single nucleotide polymorphisms with sickle cell disease subphenotypes have found that these polymorphisms are important to identify genetic markers of risk in these individuals and allow early and more effective therapeutic intervention.Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular2014-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842014000600430Revista Brasileira de Hematologia e Hemoterapia v.36 n.6 2014reponame:Revista brasileira de hematologia e hemoterapia (Online)instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)instacron:ABHHTC10.1016/j.bjhh.2014.07.022info:eu-repo/semantics/openAccessPacheco,Ana Paula Almeida de SouzaGoncalves,Marildaeng2015-09-22T00:00:00Zoai:scielo:S1516-84842014000600430Revistahttp://www.rbhh.org/pt/archivo/https://old.scielo.br/oai/scielo-oai.phpsbhh@terra.com.br||secretaria@rbhh.org1806-08701516-8484opendoar:2015-09-22T00:00Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)false
dc.title.none.fl_str_mv Klotho: its various functions and association with sickle cell disease subphenotypes
title Klotho: its various functions and association with sickle cell disease subphenotypes
spellingShingle Klotho: its various functions and association with sickle cell disease subphenotypes
Pacheco,Ana Paula Almeida de Souza
Vitamin D
Oxidative stress
Sickle cell disease
Endothelium
Gene polymorphism
title_short Klotho: its various functions and association with sickle cell disease subphenotypes
title_full Klotho: its various functions and association with sickle cell disease subphenotypes
title_fullStr Klotho: its various functions and association with sickle cell disease subphenotypes
title_full_unstemmed Klotho: its various functions and association with sickle cell disease subphenotypes
title_sort Klotho: its various functions and association with sickle cell disease subphenotypes
author Pacheco,Ana Paula Almeida de Souza
author_facet Pacheco,Ana Paula Almeida de Souza
Goncalves,Marilda
author_role author
author2 Goncalves,Marilda
author2_role author
dc.contributor.author.fl_str_mv Pacheco,Ana Paula Almeida de Souza
Goncalves,Marilda
dc.subject.por.fl_str_mv Vitamin D
Oxidative stress
Sickle cell disease
Endothelium
Gene polymorphism
topic Vitamin D
Oxidative stress
Sickle cell disease
Endothelium
Gene polymorphism
description The Klotho protein, whose gene has predominant renal expression, acts in the control of serum phosphorus and 1,25-dihydroxyvitamin D3 and regulates the function of ion channels. It also participates in the mechanism of protection against oxidative stress and acts on the vascular endothelium by inducing the production of nitric oxide. Mutations that reflect defects in the Klotho gene expression may be implicated in the onset of osteonecrosis, priapism, and leg ulcers in patients with sickle cell disease, as a result of oxidative stress and endothelial impairment, important factors in the development and severity of this disease. Previous reports regarding the association of Klotho single nucleotide polymorphisms with sickle cell disease subphenotypes have found that these polymorphisms are important to identify genetic markers of risk in these individuals and allow early and more effective therapeutic intervention.
publishDate 2014
dc.date.none.fl_str_mv 2014-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842014000600430
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842014000600430
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1016/j.bjhh.2014.07.022
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
dc.source.none.fl_str_mv Revista Brasileira de Hematologia e Hemoterapia v.36 n.6 2014
reponame:Revista brasileira de hematologia e hemoterapia (Online)
instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
instname_str Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron_str ABHHTC
institution ABHHTC
reponame_str Revista brasileira de hematologia e hemoterapia (Online)
collection Revista brasileira de hematologia e hemoterapia (Online)
repository.name.fl_str_mv Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
repository.mail.fl_str_mv sbhh@terra.com.br||secretaria@rbhh.org
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