List of works - Alison A Bertuch

A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of th

scientific article published on 09 August 2020

Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome

scientific article published on 21 April 2020

Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis—An entity different from adults ⬇️

scientific article published on March 3, 2012

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

scientific article published on 26 February 2021

Dyskeratosis congenita as a disorder of telomere maintenance ⬇️

scientific article published on July 2, 2011

Expansion of germline RPS20 mutation phenotype to include Diamond Blackfan anemia

scientific article published on 12 August 2020

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

scientific article published on 15 September 2019

Hematopoiesis under telomere attrition at the single-cell resolution

scientific article published on 25 November 2021

Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in Saccharomyces cerevisiae.

scientific article published on 2 March 2018

Ku Must Load Directly onto the Chromosome End in Order to Mediate Its Telomeric Functions ⬇️

scientific article published on August 11, 2011

Loss of Ku's DNA end binding activity affects telomere length via destabilizing telomere-bound Est1 rather than altering TLC1 homeostasis

scientific article published on 23 July 2019

Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes ⬇️

scientific article published on 09 July 2012

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

scientific article published on 21 May 2018

Telomeres and double-strand breaks: trying to make ends meet ⬇️

scientific article published on September 1, 1998

The Ku Heterodimer Performs Separable Activities at Double-Strand Breaks and Chromosome Termini ⬇️

scientific article published on November 1, 2003

The Role of Telomeres and Telomerase in Cancer Research ⬇️

scientific article published on September 14, 2010

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood ⬇️

scientific article published on 07 April 2011

Tryptophan-Dependent Control of Colony Formation After DNA Damage via Sea3-Regulated TORC1 Signaling in Saccharomyces cerevisiae

scientific article published on 4 May 2015

Which end: dissecting Ku's function at telomeres and double-strand breaks: Figure 1 ⬇️

scientific article published on October 1, 2003

List of works by Alison A Bertuch