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Telomere Dysfunction

Telomere Dysfunction diagram by Muñoz-Lorente et al, PLOS Genetics
Muñoz-Lorente et al, PLOS Genetics

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
Nature Communications

Genomic landscape and chronological reconstruction of driver events in multiple myeloma

Nature CommunicationsAugust 25, 2019
Francesco MauraPeter J Campbell

Revealing the impact of recurrent and rare structural variants in multiple myeloma

bioRxivDecember 19, 2019
Even H RustadFrancesco Maura
American Journal of Human Genetics

Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage

American Journal of Human GeneticsNovember 5, 2019
Zirui DongZi-Jiang Chen

Mechanisms Generating Cancer Genome Complexity From A Single Cell Division Error

bioRxivNovember 7, 2019
Neil UmbreitDavid Pellman

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 DeSistoAdam L. Green

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

bioRxivSeptember 5, 2019
José F MuñozChristina A Cuomo
British Journal of Cancer

DKC1 enhances angiogenesis by promoting HIF-1α transcription and facilitates metastasis in colorectal cancer

British Journal of CancerDecember 21, 2019
Pingfu HouJun Song

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

bioRxivNovember 9, 2019
Kevin HadiMarcin Imielinski
ERJ Open Research

Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder

ERJ Open ResearchNovember 23, 2019
Neelam GiriSharon A Savage

DKC1 is a transcriptional target of GATA1 and drives upregulation of telomerase activity in normal human erythroblasts

HaematologicaAugust 16, 2019
Laura A RichardsKaren L MacKenzie
Cancer Genetics

Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes

Cancer GeneticsAugust 27, 2019
D TolomeoC T Storlazzi
Stem Cell Research

Telomere dynamics and hematopoietic differentiation of human DKC1-mutant induced pluripotent stem cells

Stem Cell ResearchSeptember 4, 2019
Flavia S DonairesRodrigo T Calado
Current Opinion in Oncology

Novel molecular targets for the treatment of lung cancer

Current Opinion in OncologyOctober 11, 2019
Rafael RosellOscar Arrieta
Mayo Clinic Proceedings

Dyskeratosis Congenita

Mayo Clinic ProceedingsSeptember 6, 2019
Eric T Stoopler, Rabie M Shanti
Neurology. Genetics

CNS manifestations in patients with telomere biology disorders

Neurology. GeneticsDecember 25, 2019
Sonia BhalaSharon A Savage

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

bioRxivSeptember 25, 2019
Daniel L CameronPeter Priestley
Orvosi hetilap

The complex dental and oral surgical management with 8-year follow up of a Gorlin‒Goltz syndrome patient

Orvosi hetilapJanuary 7, 2020
Zsuzsanna GurdánJózsef Szalma
Journal of Clinical Medicine

Telomere Abnormalities in the Pathobiology of Idiopathic Pulmonary Fibrosis

Journal of Clinical MedicineAugust 21, 2019
Hasancan BilgiliWojciech J Piotrowski
Nature Cell Biology

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

Nature Cell BiologyOctober 3, 2019
Adam KaroutasAsifa Akhtar

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