Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. - Wikidata - wikimedia - TriplyDB

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

http://www.wikidata.org/entity/Q34271334

about

Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells The short and long telomere syndromes: paired paradigms for molecular medicine Telomerase Regulation from Beginning to the End ATM and ATR Signaling Regulate the Recruitment of Human Telomerase to Telomeres The genomics of inherited bone marrow failure: from mechanism to the clinic.Contributions of the TEL-patch amino acid cluster on TPP1 to telomeric DNA synthesis by human telomerase.Human telomerase: biogenesis, trafficking, recruitment, and activation.Neonatal manifestations of inherited bone marrow failure syndromes.Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group.Genetics of familial melanoma: 20 years after CDKN2A.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder Novel primary immunodeficiency candidate genes predicted by the human gene connectome Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases.Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up The shelterin complex and hematopoiesis.Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.Multi-step coordination of telomerase recruitment in fission yeast through two coupled telomere-telomerase interfaces.The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.The molecular genetics of the telomere biology disorders.Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis Structural and functional consequences of a disease mutation in the telomere protein TPP1.Concise Review: Getting to the Core of Inherited Bone Marrow Failures.The wide-ranging clinical implications of the short telomere syndromes.Means to the ends: The role of telomeres and telomere processing machinery in metastasis.Control of Cellular Aging, Tissue Function, and Cancer by p53 Downstream of Telomeres.p53 downregulates the Fanconi anaemia DNA repair pathway.Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.Chemical shift assignments and the secondary structure of the Est3 telomerase subunit in the yeast Hansenula polymorpha.The N Terminus of the OB Domain of Telomere Protein TPP1 Is Critical for Telomerase Action.Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.Dysfunctional telomeres and hematological disorders.Introduction to Telomeres and Telomerase.Novel FANCI mutations in Fanconi anemia with VACTERL association.Beginning at the ends: telomeres and human disease.

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P2860

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

http://www.wikidata.org/entity/Q34271334

description

2014 nî lūn-bûn

@nan

2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Hoyeraal-Hreidarsson syndrome ...... of the telomere protein TPP1.

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Hoyeraal-Hreidarsson syndrome ...... of the telomere protein TPP1.

@en

Hoyeraal-Hreidarsson syndrome ...... of the telomere protein TPP1.

@nl

type

label

Hoyeraal-Hreidarsson syndrome ...... of the telomere protein TPP1.

@ast

Hoyeraal-Hreidarsson syndrome ...... of the telomere protein TPP1.

@en

Hoyeraal-Hreidarsson syndrome ...... of the telomere protein TPP1.

@nl

prefLabel

Hoyeraal-Hreidarsson syndrome ...... of the telomere protein TPP1.

@ast

Hoyeraal-Hreidarsson syndrome ...... of the telomere protein TPP1.

@en

Hoyeraal-Hreidarsson syndrome ...... of the telomere protein TPP1.

@nl

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P2860

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P1433

Genes & Development

P1476

Hoyeraal-Hreidarsson syndrome ...... h of the telomere protein TPP1

@en

P2093

Adri O'Neil

http://www.w3.org/2001/XMLSchema#string

Bari J Ballew

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Belynda D Hicks

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Blanche P Alter

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Catherine E Keegan

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Hande Kocak

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Kamlesh Bisht

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NCI DCEG Cancer Genomics Research Laboratory

http://www.w3.org/2001/XMLSchema#string

NCI DCEG Cancer Sequencing Working Group

http://www.w3.org/2001/XMLSchema#string

Neelam Giri

http://www.w3.org/2001/XMLSchema#string

P2860

TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase

The POT1-TPP1 telomere complex is a telomerase processivity factor

PTOP interacts with POT1 and regulates its localization to telomeres

POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex

A dynamic molecular link between the telomere length regulator TRF1 and the chromosome end protector TRF2

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

TIN2-tethered TPP1 recruits human telomerase to telomeres in vivo

dbSNP: the NCBI database of genetic variation

A map of human genome variation from population-scale sequencing

P304

2090-2102

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scholarly article

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10.1101/GAD.248567.114

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P433

19

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28

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Jayakrishnan Nandakumar

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2014-09-18T00:00:00Z

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265862218

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25233904

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4180972

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