Genetic effects on gene expression across human tissues. Nature 550, 204–213 (2017). One of several papers describing the results obtained from the Genotype-Tissue Expression (GTEx) project, which used RNA-sequence data from more than 40 human tissues in several hundred individuals to explore ...
CFTR gene transfer to human cystic fibrosis pancreatic duct cells using a sendai virus vector. Rakonczay Z,Hegyi P,Hasegawa M, et al. Journal of Cellular Physiology . 2008Rakonczay Z Jr, Hegyi P, Hasegawa M, Inoue M, You J, Iida A, Ignath I, Alton EW, Griesenbach U, Ovari G, ...
Most diseases are caused by mutations in more than one gene. So what clues can monogenic, or single-gene disorders provide? AaAaAa Researchers have made dramatic inroads into the study ofpolygenicand other complex human diseases, due in large part to knowledge of the humangenomesequence, the ge...
Regulation Of gene expression in cystic fibrosis: implications for biology and therapeutics Cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel that when mutated causes the disease cystic fibrosis (CF). Many obstacles hi... Ramachandran,Shyam - 《University of Iowa》 被引量...
He and his team sequence the first full genome, not of a human but a virus. (All living things have a unique genome, including viruses.) 1989 The first gene linked to a disease emerges In the mid-1980s, Canadian scientist Lap-Chee Tsui and his team begin looking for the gene ...
This model supports the rationale for gene therapy in which reconstitution of CFTR function normalizes the ionic milieu of the ASF. Indeed, we show in the xenograft model that as little as ∼10% gene transfer leads to a diminution in ASF NaCl and reconstitution of antimicrobial activity. ...
The problem of replication competent adenovirus in virus production is solved in that we have developed packaging cells that have no overlapping sequences with a new basic vector and, thus, are suited
In addition to the chromosomal aneuploidies and rearrangements, single-gene defects can interfere with human fertility. This paper provides a review of the most common autosomal recessive and autosomal dominant single-gene disorders involved in human infertility. The genes reviewed are CFTR, SPATA16, ...
not available for EP1242619of corresponding document: WO0121833 A diagnostic method for the detection of the 5T, 7T and 9T alleles in intron (8) of the human CFTR gene which method comprises contacting a test sample of nucleic acid from an individual with a multiplex of diagnostic primers ...
Human gene primer sequences for SphK1, SphK2, SGPL1, SGPP1, and GAPDH have already been published [31,32]. The primer sequences for Spns2 and SGPP2 were designed: hSpns2 Fw AACGTGCTCAACTACCTGGACA and hSpns2 Rev CCTCGGTCCTTGACCCCAAAG; hSGPP2 Fw TCCACCTTGGTGTGTCTCAG and hSGPP2 ...