Results 71 to 80 of about 2,067,653 (305)
Cell Transplantation, 2012 Duchenne muscular dystrophy (DMD), a lethal X-linked disorder, is the most common and severe form of muscular dystrophies, affecting 1 in 3,500 male births. Mutations in the DMD gene lead to the absence of muscle dystrophin and a progressive degeneration
N. M. Vieira +12 more
doaj +1 more source
Ultraaccurate genome sequencing and haplotyping of single human cells. [PDF]
, 2017 Accurate detection of variants and long-range haplotypes in genomes of single human cells remains very challenging. Common approaches require extensive in vitro amplification of genomes of individual cells using DNA polymerases and high-throughput short ...
Bafna, Vineet +6 more
core +1 more source
PLoS Genetics, 2014 A growing literature in human social genomics has begun to analyze how everyday life circumstances influence human gene expression. Social-environmental conditions such as urbanity, low socioeconomic status, social isolation, social threat, and low or unstable social status have been found to associate with differential expression of hundreds of gene ...
openaire +4 more sources
Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions
FEBS Letters, EarlyView.We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva +10 more
wiley +1 more source
Large-scale discovery of enhancers from human heart tissue. [PDF]
, 2011 Development and function of the human heart depend on the dynamic control of tissue-specific gene expression by distant-acting transcriptional enhancers.
Afzal, Veena +16 more
core
SnapShot: Human Biomedical Genomics
Cell, 2011 Single-nucleotide variation (SNV) When a single base pair (A, C, T, G) is observed to vary in a DNA sequence. This variant may be private to an individual or family. For biallelic SNVs (i.e., an SNV that exists in two possible states), an individual can carry three possible allelic combinations or genotypes on their two chromosomes (e.g., for a single ...
Kenny, Eimear E., Bustamante, Carlos D.
openaire +2 more sources
PICALM::MLLT10 translocated leukemia
FEBS Letters, EarlyView.This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen +7 more
wiley +1 more source
Use of whole-genus genome sequence data to develop a multilocus sequence typing tool that accurately identifies Yersinia isolates to the species and subspecies levels [PDF]
, 2015 The genus Yersinia is a large and diverse bacterial genus consisting of human-pathogenic species, a fish-pathogenic species, and a large number of environmental species.
Carniel, Elisabeth +13 more
core +1 more source
FEBS Letters, EarlyView.At low cell density, SETDB1 and YAP1 accumulate in the nucleus. As cell density increases, the Hippo pathway is gradually activated, and SETDB1 is associated with increased YAP1 phosphorylation. At high cell density, phosphorylated YAP1 is sequestered in the cytoplasm, while SETDB1 becomes polyubiquitinated and degraded by the ubiquitin–proteasome ...
Jaemin Eom +3 more
wiley +1 more source
FEBS Letters, EarlyView.Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson +7 more
wiley +1 more source