A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

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http://www.wikidata.org/entity/Q35969867
Telomerase Regulation from Beginning to the EndThe genomics of inherited bone marrow failure: from mechanism to the clinic.Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium InternatiCTC1-mediated C-strand fill-in is an essential step in telomere length maintenance.Tying up the Ends: Plasticity in the Recognition of Single-Stranded DNA at Telomeres.Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Mutations in the promoter of the telomerase gene TERT contribute to tumorigenesis by a two-step mechanism.Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies.Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.Pathogenic CTC1 mutations cause global genome instabilities under replication stress.Time-Dependent Effects of POT1 Knockdown on Proliferation, Tumorigenicity, and HDACi Response of SK-OV3 Ovarian Cancer Cells.Beginning at the ends: telomeres and human disease.Heterozygous variants in bone marrow failure and myeloid neoplasms53BP1-RIF1-shieldin counteracts DSB resection through CST- and Polα-dependent fill-in
P2860

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

Item
http://www.wikidata.org/entity/Q35969867
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2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
A POT1 mutation implicates def ...... mere truncations in Coats plus
@ast
A POT1 mutation implicates def ...... mere truncations in Coats plus
@en
type
label
A POT1 mutation implicates def ...... mere truncations in Coats plus
@ast
A POT1 mutation implicates def ...... mere truncations in Coats plus
@en
prefLabel
A POT1 mutation implicates def ...... mere truncations in Coats plus
@ast
A POT1 mutation implicates def ...... mere truncations in Coats plus
@en
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P1476
P2093
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P478
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P356
P1433
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A POT1 mutation implicates def ...... mere truncations in Coats plus
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932