Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
about
The telomere syndromesRegulating telomere length from the inside out: the replication fork modelStructure and function of the telomeric CST complexLate-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literatureShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancyCell biology of disease: Telomeropathies: an emerging spectrum disorderThe telomere capping complex CST has an unusual stoichiometry, makes multipartite interaction with G-Tails, and unfolds higher-order G-tail structuresCTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustionThe genomics of inherited bone marrow failure: from mechanism to the clinic.MERISTEM DISORGANIZATION1 encodes TEN1, an essential telomere protein that modulates telomerase processivity in Arabidopsis.Genomic characterization of the inherited bone marrow failure syndromes.CTC1-mediated C-strand fill-in is an essential step in telomere length maintenance.CTC1 increases the radioresistance of human melanoma cells by inhibiting telomere shortening and apoptosisHuman CST promotes telomere duplex replication and general replication restart after fork stalling.Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.Bone marrow failure and the telomeropathies.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderTRF1 negotiates TTAGGG repeat-associated replication problems by recruiting the BLM helicase and the TPP1/POT1 repressor of ATR signaling.Telomere-regulating genes and the telomere interactome in familial cancers.Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variationATR cooperates with CTC1 and STN1 to maintain telomeres and genome integrity in ArabidopsisA POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plusBilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study.CTC1 Mutations in a patient with dyskeratosis congenita.Tying up the Ends: Plasticity in the Recognition of Single-Stranded DNA at Telomeres.Mechanisms of telomere loss and their consequences for chromosome instability.Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.A three-state model of telomere control over human proliferative boundaries.Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-UpMutations in the telomere capping complex in bone marrow failure and related syndromes.The shelterin complex and hematopoiesis.Telomeres and age-related disease: how telomere biology informs clinical paradigmsSuppression of STN1 enhances the cytotoxicity of chemotherapeutic agents in cancer cells by elevating DNA damage.Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.The molecular genetics of the telomere biology disorders.Human TEN1 maintains telomere integrity and functions in genome-wide replication restartCST for the grand finale of telomere replication.Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Surprises from the chromosome front: lessons from Arabidopsis on telomeres and telomerase.
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P2860
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
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2012 nî lūn-bûn
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2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2012 թվականի հունվարին հրատարակված գիտական հոդված
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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name
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
@ast
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
@en
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
@nl
type
label
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
@ast
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
@en
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
@nl
prefLabel
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
@ast
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
@en
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
@nl
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P50
P356
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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
@en
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Andrea Berger
Andrea Whitney
Beverley H Anderson
Calvin Soh
Catheline N Vilain
Charles M Lourenço
David Chitayat
Emma L Wakeling
Emma M Jenkinson
Ewan H Forrest
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P2888
P304
P356
10.1038/NG.1084
P407
P50
P577
2012-01-22T00:00:00Z
P5875
P6179
1042776923