Chromosome 21 and down syndrome: from genomics to pathophysiology

SE Antonarakis, R Lyle, ET Dermitzakis… - Nature reviews …, 2004 - nature.com
The sequence of chromosome 21 was a turning point for the understanding of Down
syndrome. Comparative genomics is beginning to identify the functional components of the …

Down syndrome and genetics—a case of linked histories

D Patterson, ACS Costa - Nature Reviews Genetics, 2005 - nature.com
Down syndrome, the most common genetic cause of intellectual disabilities, was first
described in 1866, during an era of great change in our understanding of genetics and …

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

G Diez-Roux, S Banfi, M Sultan, L Geffers, S Anand… - PLoS …, 2011 - journals.plos.org
Ascertaining when and where genes are expressed is of crucial importance to
understanding or predicting the physiological role of genes and proteins and how they …

[图书][B] Systems biology: a textbook

E Klipp, W Liebermeister, C Wierling, A Kowald - 2016 - books.google.com
This advanced textbook is tailored for an introductory course in Systems Biology and is well-
suited for biologists as well as engineers and computer scientists. It comes with student …

Promoter features related to tissue specificity as measured by Shannon entropy

J Schug, WP Schuller, C Kappen, JM Salbaum… - Genome biology, 2005 - Springer
Background The regulatory mechanisms underlying tissue specificity are a crucial part of the
development and maintenance of multicellular organisms. A genome-wide analysis of …

Behavior genetics and postgenomics

E Charney - Behavioral and brain sciences, 2012 - cambridge.org
The science of genetics is undergoing a paradigm shift. Recent discoveries, including the
activity of retrotransposons, the extent of copy number variations, somatic and chromosomal …

Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome

P Kahlem, M Sultan, R Herwig, M Steinfath… - Genome …, 2004 - genome.cshlp.org
Human trisomy 21, which results in Down syndrome (DS), is one of the most complicated
congenital genetic anomalies compatible with life, yet little is known about the molecular …

Origins of leukaemia in children with Down syndrome

JK Hitzler, A Zipursky - Nature Reviews Cancer, 2005 - nature.com
Transient megakaryoblastic leukaemia is found in 10% of newborns with Down syndrome,
characterized by constitutional trisomy 21. Although in most cases the leukaemic cells …

Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions

K Gardiner, A Fortna, L Bechtel, MT Davisson - Gene, 2003 - Elsevier
With an incidence of approximately 1 in 700 live births, Down syndrome (DS) remains the
most common genetic cause of mental retardation. The phenotype is assumed to be due to …

Protection from doxorubicin-induced cardiac toxicity in mice with a null allele of carbonyl reductase

LE Olson, D Bedja, SJ Alvey, AJ Cardounel… - Cancer research, 2003 - AACR
Doxorubicin is a highly effective antineoplastic agent, but it can produce the serious side
effects of acute cardiac injury and chronic congestive heart failure. Carbonyl reductase …