Results 21 to 30 of about 2,026,261 (344)
Genetic variants associated with Hermansky-Pudlak syndrome
Platelets, 2020 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency ...
Melissa A. Merideth +5 more
doaj +1 more source
Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates
BMC Evolutionary Biology, 2020 Background Human chromosome 19 has many unique characteristics including gene density more than double the genome-wide average and 20 large tandemly clustered gene families.
R. Alan Harris +3 more
doaj +1 more source
The genomics of the human endometrium
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2012 The endometrium is a complex tissue that lines the inside of the endometrial cavity. The gene expression of the different endometrial cell types is regulated by ovarian steroids and paracrine-secreted molecules from neighbouring cells. Due to this regulation, the endometrium goes through cyclic modifications which can be divided simply into the ...
Carlos Simón +2 more
openaire +3 more sources
On the sequencing of the human genome [PDF]
Proceedings of the National Academy of Sciences, 2002 Two recent papers using different approaches reported draft sequences of the human genome. The international Human Genome Project (HGP) used the hierarchical shotgun approach, whereas Celera Genomics adopted the whole-genome shotgun (WGS) approach. Here, we analyze whether the latter paper provides a meaningful test of the WGS approach on a mammalian ...
Waterston, Robert H. +2 more
openaire +3 more sources
Latent regulatory potential of human-specific repetitive elements [PDF]
, 2013 At least half of the human genome is derived from repetitive elements, which are often lineage specific and silenced by a variety of genetic and epigenetic mechanisms. Using a transchromosomic mouse strain that transmits an almost complete single copy of
Barbosa-Morais, Nuno L. +15 more
core +1 more source
HDAC9 is implicated in atherosclerotic aortic calcification and affects vascular smooth muscle cell phenotype. [PDF]
, 2019 Aortic calcification is an important independent predictor of future cardiovascular events. We performed a genome-wide association meta-analysis to determine SNPs associated with the extent of abdominal aortic calcification (n = 9,417) or descending ...
Bagchi, Aranya +49 more
core +1 more source
BMC Genomics, 2021 Background CRISPR-Cas9 genome-wide screens are being increasingly performed, allowing systematic explorations of cancer dependencies at unprecedented accuracy and scale.
Alessandro Vinceti +6 more
doaj +1 more source
Measuring microsatellite conservation in mammalian evolution with a phylogenetic birth-death model. [PDF]
, 2012 Microsatellites make up ∼3% of the human genome, and there is increasing evidence that some microsatellites can have important functions and can be conserved by selection.
Buschiazzo, Emmanuel +4 more
core +1 more source
Bioengineered, 2016 In the early 90s, Manfred Eigen lectured at Hoffman-La Roche and explained that a gene of 1,000 base pairs has 10605 combinations.
Christian Bach, Prabir Patra
openaire +3 more sources
Comparative genomic analyses reveal a lack of a substantial signature of host adaptation in Rhodococcus equi (‘Prescottella equi’) [PDF]
, 2013 Rhodococcus equi (‘Prescottella equi’) is a pathogenic actinomycete primarily infecting horses but has emerged as an opportunistic human pathogen. We have sequenced the genome of the type strain of this species, R.
Arruda +35 more
core +1 more source