TINF2 mutations in children with severe aplastic anemia.
about
The genetics of dyskeratosis congenitaTranscriptional activation of TINF2, a gene encoding the telomere-associated protein TIN2, by Sp1 and NF-κB factorsMitochondrial localization of telomeric protein TIN2 links telomere regulation to metabolic controlTIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase.The relationship between DNA methylation and telomere length in dyskeratosis congenita.Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.Telomere dysfunction in human diseases: the long and short of it!The genetics and clinical manifestations of telomere biology disorders.Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhoodInherited bone marrow failure syndromes in 2012.Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.Introduction to Telomeres and Telomerase.Loss of RNA-binding protein HuR facilitates cellular senescence through posttranscriptional regulation of TIN2 mRNA.
P2860
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P2860
TINF2 mutations in children with severe aplastic anemia.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
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2009年學術文章
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name
TINF2 mutations in children with severe aplastic anemia.
@en
TINF2 mutations in children with severe aplastic anemia.
@nl
type
label
TINF2 mutations in children with severe aplastic anemia.
@en
TINF2 mutations in children with severe aplastic anemia.
@nl
prefLabel
TINF2 mutations in children with severe aplastic anemia.
@en
TINF2 mutations in children with severe aplastic anemia.
@nl
P2093
P2860
P356
P1476
TINF2 mutations in children with severe aplastic anemia.
@en
P2093
David B Wilson
Hong-Yan Du
Monica Bessler
Philip J Mason
P2860
P356
10.1002/PBC.21903
P577
2009-05-01T00:00:00Z