Primate segmental duplications: crucibles of evolution, diversity and disease

JA Bailey, EE Eichler - Nature Reviews Genetics, 2006 - nature.com
Compared with other mammals, the genomes of humans and other primates show an
enrichment of large, interspersed segmental duplications (SDs) with high levels of sequence …

EGASP: the human ENCODE genome annotation assessment project

R Guigó, P Flicek, JF Abril, A Reymond, J Lagarde… - Genome biology, 2006 - Springer
Background We present the results of EGASP, a community experiment to assess the state-
of-the-art in genome annotation within the ENCODE regions, which span 1% of the human …

Finishing the euchromatic sequence of the human genome

International Human Genome Sequencing Consortium - Nature, 2004 - nature.com
The sequence of the human genome encodes the genetic instructions for human
physiology, as well as rich information about human evolution. In 2001, the International …

The DNA sequence of the human X chromosome

MT Ross, DV Grafham, AJ Coffey, S Scherer, K McLay… - Nature, 2005 - nature.com
The human X chromosome has a unique biology that was shaped by its evolution as the sex
chromosome shared by males and females. We have determined 99.3% of the euchromatic …

Stepwise evolution of the centriole-assembly pathway

Z Carvalho-Santos, P Machado… - Journal of cell …, 2010 - journals.biologists.com
The centriole and basal body (CBB) structure nucleates cilia and flagella, and is an essential
component of the centrosome, underlying eukaryotic microtubule-based motility, cell division …

Chromosomics: Bridging the gap between genomes and chromosomes

JE Deakin, S Potter, R O'Neill, A Ruiz-Herrera… - Genes, 2019 - mdpi.com
The recent advances in DNA sequencing technology are enabling a rapid increase in the
number of genomes being sequenced. However, many fundamental questions in genome …

TRPM channels in human diseases

I Jimenez, Y Prado, F Marchant, C Otero, F Eltit… - Cells, 2020 - mdpi.com
The transient receptor potential melastatin (TRPM) subfamily belongs to the TRP cation
channels family. Since the first cloning of TRPM1 in 1989, tremendous progress has been …

[图书][B] TRP ion channel function in sensory transduction and cellular signaling cascades

WB Liedtke - 2006 - taylorfrancis.com
Since the first TRP ion channel was discovered in Drosophila melanogaster in 1989, the
progress made in this area of signaling research has yielded findings that offer the potential …

Polymorphic variants on chromosomes probably play a significant role in infertility

PF Madon, AS Athalye, FR Parikh - Reproductive BioMedicine Online, 2005 - Elsevier
Polymorphic variants on chromosomes are considered 'normal', as heterochromatin has no
coding potential and nucleolar organizing regions (NOR) contain genes coding for rRNA …

The first gapless, reference-quality, fully annotated genome from a Southern Han Chinese individual

KH Chao, AV Zimin, M Pertea… - G3: Genes, Genomes …, 2023 - academic.oup.com
We used long-read DNA sequencing to assemble the genome of a Southern Han Chinese
male. We organized the sequence into chromosomes and filled in gaps using the recently …