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Induced pluripotent stem cells and their use in human models of disease and development
The discovery of somatic cell nuclear transfer proved that somatic cells can carry the same
genetic code as the zygote, and that activating parts of this code are sufficient to reprogram …
genetic code as the zygote, and that activating parts of this code are sufficient to reprogram …
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 …
gain dosage imbalances, including microduplications. The functional genomic exploration of …
The emerging role of GATA transcription factors in development and disease
MHFM Lentjes, HEC Niessen, Y Akiyama… - Expert reviews in …, 2016 - cambridge.org
The GATA family of transcription factors consists of six proteins (GATA1-6) which are
involved in a variety of physiological and pathological processes. GATA1/2/3 are required …
involved in a variety of physiological and pathological processes. GATA1/2/3 are required …
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 …
hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1, 2, and 3 …
The prenatal origins of cancer
GM Marshall, DR Carter, BB Cheung, T Liu… - Nature Reviews …, 2014 - nature.com
The concept that some childhood malignancies arise from postnatally persistent embryonal
cells has a long history. Recent research has strengthened the links between driver …
cells has a long history. Recent research has strengthened the links between driver …
Transient abnormal myelopoiesis and AML in Down syndrome: an update
N Bhatnagar, L Nizery, O Tunstall, P Vyas… - Current hematologic …, 2016 - Springer
Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition
to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a …
to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a …
GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia
I Roberts, K Alford, G Hall, G Juban… - Blood, The Journal …, 2013 - ashpublications.org
Transient abnormal myelopoiesis (TAM), a preleukemic disorder unique to neonates with
Down syndrome (DS), may transform to childhood acute myeloid leukemia (ML-DS) …
Down syndrome (DS), may transform to childhood acute myeloid leukemia (ML-DS) …
RUNX1 isoform disequilibrium promotes the development of trisomy 21–associated myeloid leukemia
Abstract Gain of chromosome 21 (Hsa21) is among the most frequent aneuploidies in
leukemia. However, it remains unclear how partial or complete amplifications of Hsa21 …
leukemia. However, it remains unclear how partial or complete amplifications of Hsa21 …
What people with Down Syndrome can teach us about cardiopulmonary disease
KL Colvin, ME Yeager - European Respiratory Review, 2017 - publications.ersnet.org
Down syndrome is the most common chromosomal abnormality among live-born infants.
Through full or partial trisomy of chromosome 21, Down syndrome is associated with …
Through full or partial trisomy of chromosome 21, Down syndrome is associated with …
Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies
J Saliba, C Saint-Martin, A Di Stefano, G Lenglet… - Nature …, 2015 - nature.com
No major predisposition gene for familial myeloproliferative neoplasms (MPN) has been
identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb …
identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb …