Advances in germline predisposition to acute leukaemias and myeloid neoplasms

JM Klco, CG Mullighan - Nature Reviews Cancer, 2021 - nature.com
Although much work has focused on the elucidation of somatic alterations that drive the
development of acute leukaemias and other haematopoietic diseases, it has become …

Down syndrome and the complexity of genome dosage imbalance

SE Antonarakis - Nature Reviews Genetics, 2017 - nature.com
Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic
gain dosage imbalances, including microduplications. The functional genomic exploration of …

Transcriptional regulatory elements in the human genome

GA Maston, SK Evans, MR Green - Annu. Rev. Genomics Hum …, 2006 - annualreviews.org
The faithful execution of biological processes requires a precise and carefully orchestrated
set of steps that depend on the proper spatial and temporal expression of genes. Here we …

Developmental origins and emerging therapeutic opportunities for childhood cancer

M Filbin, M Monje - Nature medicine, 2019 - nature.com
Cancer is the leading disease-related cause of death in children in developed countries.
Arising in the context of actively growing tissues, childhood cancers are fundamentally …

GATA factor mutations in hematologic disease

JD Crispino, MS Horwitz - Blood, The Journal of the American …, 2017 - ashpublications.org
GATA family proteins play essential roles in development of many cell types, including
hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1, 2, and 3 …

Infection, immune responses and the aetiology of childhood leukaemia

M Greaves - Nature Reviews Cancer, 2006 - nature.com
Childhood leukaemia is the principal subtype of paediatric cancer and, despite success in
treatment, its causes remain enigmatic. A plethora of candidate environmental exposures …

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile …

M Rudelius, OK Weinberg, CM Niemeyer… - Virchows Archiv, 2023 - Springer
Updating the classification of hematologic neoplasia with germline predisposition, pediatric
myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML) is critical …

Defining 'chromosomal instability'

JB Geigl, AC Obenauf, T Schwarzbraun, MR Speicher - Trends in Genetics, 2008 - cell.com
Most scientists agree that the majority of human solid malignant tumors are characterized by
chromosomal instability (CIN) involving gain or loss of whole chromosomes or fractions of …

Genómica del síndrome de Down

S Díaz-Cuéllar, E Yokoyama-Rebollar… - Acta pediátrica de …, 2016 - scielo.org.mx
El síndrome de Down es la cromosomopatía más común del ser humano, con una
frecuencia de 1 en 650 recién nacidos vivos. Las manifestaciones clínicas son muy …

The transcription factor Erg is essential for definitive hematopoiesis and the function of adult hematopoietic stem cells

SJ Loughran, EA Kruse, DF Hacking, CA De Graaf… - Nature …, 2008 - nature.com
Abstract Ets-related gene (ERG), which encodes a member of the Ets family of transcription
factors, is a potent oncogene. Chromosomal rearrangements involving ERG are found in …