A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition
about
Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cellsInvestigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.DNA methylation in PRDM8 is indicative for dyskeratosis congenita.Targeting signaling and apoptotic pathways involved in chemotherapeutic drug-resistance of hematopoietic cells.Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.The age of heterozygous telomerase mutant parents influences the adult phenotype of their offspring irrespective of genotype in zebrafish.
P2860
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
A novel autosomal recessive TE ...... reversible by mTOR-inhibition
@ast
A novel autosomal recessive TE ...... reversible by mTOR-inhibition
@en
type
label
A novel autosomal recessive TE ...... reversible by mTOR-inhibition
@ast
A novel autosomal recessive TE ...... reversible by mTOR-inhibition
@en
prefLabel
A novel autosomal recessive TE ...... reversible by mTOR-inhibition
@ast
A novel autosomal recessive TE ...... reversible by mTOR-inhibition
@en
P2093
P2860
P50
P356
P1433
P1476
A novel autosomal recessive TE ...... reversible by mTOR-inhibition
@en
P2093
Andreas E Kulozik
Andreas Trumpp
Carolin Kerber
Clemens Stockklausner
Daniel Nowak
Fabian Beier
Friederike Bürger
Georg F Hoffmann
Holger Lorenz
Jan O Korbel
P2860
P304
P356
10.18632/AGING.100835
P577
2015-11-01T00:00:00Z