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Telomere Dysfunction

Telomere Dysfunction diagram by undefined

Telomere dysfunction in response to critical telomere shortening induces dna damage checkpoints that lead to cell cycle arrest and/or cell death.

Top 20 most recent papers
Nature Genetics

Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita

Nature GeneticsOctober 2, 2019
Daphna NachmaniPier Paolo Pandolfi
12
2
Nature Communications

Genomic landscape and chronological reconstruction of driver events in multiple myeloma

Nature CommunicationsAugust 23, 2019
Francesco MauraPeter J. Campbell
18
50
Nature

Somatic mutations and clonal dynamics in healthy and cirrhotic human liver

NatureOctober 1, 2019
Simon F BrunnerPeter J. Campbell
207
6
2
1
bioRxiv

APOBEC3B-dependent kataegis and TREX1-driven chromothripsis in telomere crisis

bioRxivAugust 5, 2019
John MaciejowskiPeter J. Campbell
17
7
bioRxiv

Telomeric Double Strand Breaks Facilitate Formation of 5′ C-Rich Overhangs in G1 Human Cells

bioRxivAugust 1, 2019
Christopher S. NelsonSusan Morgan Bailey
2
Nature Cell Biology

The NSL complex maintains nuclear architecture stability via lamin A/C acetylation

Nature Cell BiologyOctober 1, 2019
Adam KaroutasAsifa Akhtar
American Journal of Human Genetics

Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage

American Journal of Human GeneticsOctober 29, 2019
Zirui DongZi-Jiang Chen
23
6
Mayo Clinic Proceedings

Dyskeratosis Congenita

Mayo Clinic ProceedingsSeptember 1, 2019
Eric T Stoopler, Rabie M Shanti
2
Frontiers in Immunology

Molecular Characterization of Human Lymph Node Stromal Cells During the Earliest Phases of Rheumatoid Arthritis

Frontiers in ImmunologyAugust 20, 2019
Emmanuel KarouzakisLisa G M van Baarsen
6
bioRxiv

Chromosomal rearrangements and loss of subtelomeric adhesins linked to clade-specific phenotypes in Candida auris

bioRxivSeptember 5, 2019
Jose F. MunozChristina A. Cuomo
36
bioRxiv

Mechanisms Generating Cancer Genome Complexity From A Single Cell Division Error

bioRxivNovember 7, 2019
Neil T UmbreitDavid S Pellman
20
Expert Review of Hematology

An update on the biology and management of dyskeratosis congenita and related telomere biology disorders

Expert Review of HematologySeptember 3, 2019
Marena R Niewisch, Sharon A. Savage
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research

Genomic profiling identifies association of IDH1/IDH2 mutation with longer relapse free and metastasis free survival in high-grade chondrosarcoma

Clinical Cancer Research : an Official Journal of the American Association for Cancer ResearchOctober 15, 2019
Guo ZhuMeera R Hameed
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc

Characterization of molecular signatures of supratentorial ependymomas

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, IncAugust 2, 2019
Matthew TorreDavid M Meredith
5
4
bioRxiv

Comprehensive molecular characterization of pediatric treatment-induced high-grade glioma: A distinct entity despite disparate etiologies with defining molecular characteristics and potential therapeutic targets

bioRxivOctober 25, 2019
John A DeSistoAdam L. Green
11
EMBO Molecular Medicine

Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models

EMBO Molecular MedicineJuly 1, 2019
Maname BenyellesPatrick Revy
bioRxiv

GRIDSS, PURPLE, LINX: Unscrambling the tumor genome via integrated analysis of structural variation and copy number

bioRxivSeptember 25, 2019
Daniel L CameronPeter Priestley
44
bioRxiv

Tel1 activation by the MRX complex is sufficient for telomere length regulation but not for the DNA damage response in S. cerevisiae

bioRxivJune 27, 2019
Rebecca KeenerCarol Widney Greider
2
Human Mutation

From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants

Human MutationAugust 26, 2019
Lois M DodsonAlison A. Bertuch
1
bioRxiv

Novel patterns of complex structural variation revealed across thousands of cancer genome graphs

bioRxivNovember 9, 2019
Kevin HadiMarcin B Imielinski
147

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